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1. Comparative evaluation of ten blood biomarkers of inflammation in regular heated tobacco users and non-smoking healthy males–a pilot study

Author: Beata Świątkowska, Mateusz Jankowski, and Dorota Kaleta
Subjects: Medicine, Science
Abstract: Abstract Heated tobacco products (HTPs) are novel tobacco products that are alternatives to cigarettes. The study aimed to investigate the effect of HTPs on blood biomarkers of inflammation as well as to provide a comparative evaluation between daily heated tobacco users and healthy men who do not use nicotine products. This case–control study was carried out among 92 healthy males in Poland (Lodz-Province) aged 20–56 years: 44 daily heated tobacco users (daily use in the past 90 days) and 48 controls who do not use nicotine products. The history of use of the nicotine-containing products was self-reported and verified using a saliva cotinine test. A 20 ml blood sample was collected and the levels of ten blood biomarkers were analyzed. Among all heated tobacco users (n = 44), only the levels of interleukin 8 (IL-8) were significantly higher when compared to controls: 6.86 vs. 3.95 (p = 0.01). Among exclusive heated tobacco users (n = 33), the levels of IL-8 were also significantly higher when compared to controls: 7.76 vs. 3.95 (p = 0.01). IL-8 level was positively correlated (r = 0.37; p = 0.01) with the daily number of heated tobacco sticks. Out of 10 different biomarkers of inflammation, only IL-8 levels were significantly elevated in heated tobacco use compared to controls.
Published: 2024
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2. COVID-19 caused by the SARS-CoV-2 as an occupational disease in Poland

Author: Beata Świątkowska, Marcin Rybacki, and Wojciech Hanke
Subjects: occupational health, health care professionals, work-related diseases, epidemiological data, covid-19, pandemic, Public aspects of medicine, RA1-1270
Abstract: Background The unexpected outbreak of the COVID-19 pandemic has led huge impact on health and safety of employees. Although now the epidemiological situation has improved, but it remains a challenge, especially in light of the emergence of new threats. The aim of the work is to present an epidemiological analysis of data on COVID-19 as an occupational disease in Poland. Material and Methods The analysis covered all cases of occupational diseases sent by state sanitary inspectors to the Central Register of Occupational Diseases. The years 2020–2022 and such available data as: age, gender, activities and territorial differentiation were analyzed. The data were presented as absolute numbers and incidence rates per 100 000 employed persons and for healthcare workers also per 100 000 persons authorized to practice. Results In the period 2020–2022 in Poland 7030 diseases recognized as occupational diseases were recorded, of which almost half were infectious diseases (47%). Among infectious diseases, dominated COVID-19 in number of 2059 cases. In this period 98.6% of all cases of COVID-19 were concentrated in the health care and social activities. According to workplaces, most diseases were caused by working in hospitals – 1825 cases (88.6% of all COVID-19 cases in the healthcare workers). Most cases concerned nurses – 1355 cases (65,8%) and doctors – 212 cases (10,3%). The incidence of COVID-19 in the group of physicians per 10 000 persons entitled to practice ranged from 2.6 in 2020 to 68.3 in 2022, while among nurses and midwives the rates were 7.9 and 194.9, respectively. Conclusions The COVID-19 pandemic changed the picture of occupational diseases in Poland. Therefore, it is very important to understand the key contributions of people working in environments where workers are at increased risk of contracting COVID-19 due to the nature of their work, and to promote the recognition of COVID-19 as an occupational disease. Med Pr Work Health Saf. 2023;74(6):479–86.
Published: 2023
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3. Concept of health surveillance programme for workers exposed to respirable crystalline silica at present and in the past

Author: Joanna Nowak-Pasternak, Beata Świątkowska, and Agnieszka Lipińska-Ojrzanowska
Subjects: epidemiology, silicosis, lung diseases, occupational diseases, prevention and control, silicon dioxide, Public aspects of medicine, RA1-1270
Abstract: In the paper authors present general assumptions of health surveillance programme concept for workers employed in respirable crystalline silica (RCS) exposure at present and in the past. There is no effective treatment for silicosis thus disease prevention is of paramount significance. For decades efforts of World Health Organization (WHO) and International Work Organization (ILO) have been focused on eliminating silicosis globally. Unfortunately silicosis is still one of the most lethal occupational diseases and the preventative programmes have not yet been successful. The authors identify main steps to complete an overview of RCS exposure and suggest lines of actions to be taken before launching the health surveillance programme. Introduction of the health surveillance programme would increase awareness of harmful health effects of the RCS exposure, emphasize the significance of preventive medical check-ups and early diagnostics of occupational diseases as well as the importance of using appropriate protective equipment. The programme development on a national level might be carried out with the cooperation of multiple backgrounds and institutions. This would allow for detailed planning, implementation, monitoring and effective evaluation of its results. Having a better and updated knowledge of silicosis epidemiology, early diagnostics, the possible sources of RCS occupational exposure and evaluation of undertaken preventive actions are crucial factors in disease prevention. The programme introduction would be of educational significance for all the stakeholders and the groups engaged in the project implementation, which would contribute to high effectiveness of the preventive activities and their improvement in the future. Med Pr Work Health Saf. 2023;74(4):341–6.
Published: 2023
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4. Occupational diseases in Poland in 2020

Author: Beata Świątkowska and Wojciech Hanke
Subjects: incidence, occupational diseases, causative factors, epidemiological situation, covid-19, poland, Public aspects of medicine, RA1-1270
Abstract: Background The aim of the study is to analyze the epidemiological situation regarding the occurrence of occupational diseases in Poland in 2020 and to define possible directions for recommendations regarding preventive actions. Material and Methods The cases of occupational diseases identified in accordance with the Polish judicial system and reported to the Central Register of Occupational Diseases in 2020 were analyzed. The analysis took into account disease entities, causal factors, gender, age of patients, exposure period, NACE section and territorial differentiation. Data are presented in absolute numbers and incidence rates per 100 000 employed and 100 000 employed persons. Results In 2020, 1850 cases of occupational diseases were diagnosed in Poland (11.5 cases per 100 000 employees). The disease entities with the highest incidence were infectious or parasitic diseases, pneumoconiosis, chronic diseases of the voice organ, diseases of the peripheral nervous system, diseases of the locomotor system and hearing loss. Over 90% of the statements concerned people >45 years of age. Most of the identified occupational diseases arose after at least 10 years of work in exposure to a harmful factor, and 73.9% of cases concerned people with over 20 years of work experience in exposure. Conclusions The epidemiological situation in the field of occupational diseases in our country indicates a disturbing phenomenon, which is the persistence of a high level of pneumoconiosis of hard coal miners. The reflection of the effects of the pandemic in the COVID-19 incidence statistics as an occupational disease in 2020 is small. It is expected that the number of these cases will increase sharply in the coming years. Med Pr. 2022;73(5):427–33
Published: 2022
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5. Epidemiology of silicosis reported to the central register of occupational diseases over last 20 years in Poland

Author: Joanna Nowak-Pasternak, Agnieszka Lipińska-Ojrzanowska, and Beata Świątkowska
Subjects: poland, occupational diseases, epidemiology, silica, silicosis, pneumoconioses, Medicine
Abstract: Objectives The aim of the study was to investigate and assess the incidence of silicosis cases acknowledged as occupational diseases in Poland in 2000–2019. Material and Methods The cases of all medically recognized pneumoconioses, including silicoses, certified as occupational diseases were studied. The records were extracted from the Central Register of Occupational Diseases, the only official Polish central electronic data base of occupational diseases. Results During the period 2000–2019, 2066 confirmed cases of silicoses and 10 665 cases of other pneumoconioses including asbestosis and coal workers’ pneumoconiosis were reported to the Central Register of Occupational Diseases. Silicoses accounted for 12.8–21.2% of all pneumoconioses. The number of confirmed silicoses cases was growing along with the length of latency period and was the highest for the period of ≥40 years (513 cases). Over 70% of silicoses cases occurred after occupational exposure >20 years. The most workers who evolved silicosis were employed in manufacturing, predominantly casting of iron, mining and quarrying and construction. Conclusions The number of confirmed cases of silicosis in Poland decreased in 2000–2019 but the disease still remains an important health problem. Prevention is crucial to reduce further disease incidence. The medical monitoring standards of exposed workers should be improved. Developing new diagnosing guidelines with the use of other imaging examinations, like high-resolution computed tomography, has to be considered. The analysis should contribute into the implementation of silicosis preventative programmes, both at the enterprise and national level. Int J Occup Med Environ Health. 2022;35(5):561–70
Published: 2022
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6. The use of umbilical cord‐derived mesenchymal stem cells in patients with muscular dystrophies: Results from compassionate use in real‐life settings

Author: Beata Świątkowska‐Flis, Izabela Zdolińska‐Malinowska, Dominika Sługocka, and Dariusz Boruczkowski
Subjects: dystrophy, muscular diseases, musculoskeletal disorders, stem cell therapy, Wharton's jelly, Medicine (General), R5-920, Cytology, QH573-671
Abstract: Abstract Muscular dystrophies are genetically determined progressive diseases with no cause‐related treatment and limited supportive treatment. Although stem cells cannot resolve the underlying genetic conditions, their wide‐ranging therapeutic properties may ameliorate the consequences of the involved mutations (oxidative stress, inflammation, mitochondrial dysfunction, necrosis). In this study, we administered advanced therapy medicinal product containing umbilical cord‐derived mesenchymal stem cells (UC‐MSCs) to 22 patients with muscular dystrophies. Patients received one to five intravenous and/or intrathecal injections per treatment course in up to two courses every 2 months. Four standard doses of 10, 20, 30, or 40 × 106 UC‐MSCs per injection were used; the approximate dose per kilogram was 1 × 106 UC‐MSCs. Muscle strength was measured with a set of CQ Dynamometer computerized force meters (CQ Elektronik System, Czernica, Poland). Statistical analysis of muscle strength in the whole group showed significant improvement in the right upper limb (+4.0 N); left hip straightening (+4.5 N) and adduction (+0.5 N); right hip straightening (+1.0 N), bending (+7.5 N), and adduction (+2.5 N); right knee straightening (+8.5 N); left shoulder revocation (+13.0 N), straightening (+5.5 N), and bending (+6.5 N); right shoulder adduction (+3.0 N), revocation (+10.5 N), and bending (+5 N); and right elbow straightening (+9.5 N); all these differences were statistically significant. In six patients (27.3%) these changes led to improvement in gait analysis or movement scale result. Only one patient experienced transient headache and lower back pain after the last administration. In conclusion, UC‐MSC therapy may be considered as a therapeutic option for these patients.
Published: 2021
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7. Application of two job indices for general occupational demands in a pooled analysis of case–control studies on lung cancer

Author: Jan Hovanec, Jack Siemiatycki, David I Conway, Ann Olsson, Pascal Guenel, Danièle Luce, Karl-Heinz Jöckel, Hermann Pohlabeln, Wolfgang Ahrens, Stefan Karrasch, Heinz-Erich Wichmann, Per Gustavsson, Dario Consonni, Franco Merletti, Lorenzo Richiardi, Simonato Lorenzo, Cristina Fortes, Marie-Élise Parent, John R McLaughlin, Paul Demers, Maria Teresa Landi, Neil Caporaso, Guillermo Fernández-Tardón, David Zaridze, Beata Świątkowska, Tamas Pándics, Jolanta Lissowska, Eleonora Fabianova, John K Field, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, Hans Kromhout, Roel Vermeulen, Paolo Boffetta, Kurt Straif, Joachim Schüz, Swaantje Casjens, Beate Pesch, Thomas Brüning, and Thomas Behrens
Subjects: cancer, smoking, lung cancer, psychosocial, job index, case–control, tumor subtype, social prestige, occupational demand, Public aspects of medicine, RA1-1270
Abstract: OBJECTIVES: We investigated general job demands as a risk factor for lung cancer as well as their role in the association between occupational prestige and lung cancer. METHODS: In 13 case–control studies on lung cancer, as part of the international SYNERGY project, we applied indices for physical (PHI) and psychosocial (PSI) job demands – each with four categories (high to low). We estimated odds ratios (OR) and 95% confidence intervals (CI) for lung cancer by unconditional logistic regression, separately for men and women and adjusted for study centre, age, smoking behavior, and former employment in occupations with potential exposure to carcinogens. Further, we investigated, whether higher risks among men with low occupational prestige (Treiman’s Standard International Occupational Prestige Scale) were affected by adjustment for the job indices. RESULTS: In 30 355 men and 7371 women, we found increased risks (OR) for lung cancer with high relative to low job demands in both men [PHI 1.74 (95% CI 1.56–1.93), PSI 1.33 (95% CI 1.17–1.51)] and women [PHI 1.62 (95% CI 1.24–2.11), PSI 1.31 (95% CI 1.09–1.56)]. OR for lung cancer among men with low occupational prestige were slightly reduced when adjusting for PHI [low versus high prestige OR from 1.44 (95% CI 1.32–1.58) to 1.30 (95% CI 1.17–1.45)], but not PSI. CONCLUSIONS: Higher physical job demands were associated with increased risks of lung cancer, while associations for higher psychosocial demands were less strong. In contrast to physical demands, psychosocial demands did not contribute to clarify the association of occupational prestige and lung cancer.
Published: 2021
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8. Health protection of employees against SARS-CoV-2 coronavirus infection causing the COVID-19 disease – the current state of knowledge and recommendations

Author: Beata Świątkowska, Jolanta Walusiak-Skorupa, Grzegorz Juszczyk, Rafał Gierczyński, Krzysztof Socha, and Agnieszka Lipińska-Ojrzanowska
Subjects: recommendations, health care, employees, covid-19, pandemic, sars‑cov-, Public aspects of medicine, RA1-1270
Abstract: The COVID-19 pandemic, despite the restrictions and preventive measures applied, has rapidly spread and reached Poland. The adaptation to the dynamically changing epidemiological situation requires a prompt implementation of effective preventive measures. The aim of the publication is to provide current knowledge to all persons involved in the preventive care system, i.e., employees, employers and professionals of occupational medicine, about the epidemiological situation related to SARS‑CoV- 2, as well as recommendations and possible solutions. In order to analyze these issues, a review of literature was conducted based on medical research databases: PubMed, SCOPUS, and the Web of Science Core Collection. The literature was supplemented with studies found on websites of the Ministry of Health and the World Health Organization. Data on the cases of and deaths due to COVID-19 come from reports provided by the Ministry of Health, data published on the websites of the European Center for Disease Prevention and Control, and ourworldindata.org. By the time of submitting the publication, 34 154 cases and 1444 deaths due to coronavirus had been recorded in Poland. Data from published studies suggest that the virus is mainly transmitted via droplets or through contact with contaminated objects and surfaces. Therefore, in the absence of an effective vaccine, preventive actions are based mainly on strategies that minimize the risk of pathogen transmission. In addition to discussing the current epidemiological situation, diagnostic procedures, risk groups and COVID-19 characteristics, the paper presents recommendations and proposed solutions for employers and employees regarding the prevention of SARS‑CoV- 2, along with currently applicable laws and recommendations on employee prophylactic examinations during the pandemic. Subsequently, COVID-19 was discussed in the aspect of an occupational disease and other health threats related to the pandemics. The epidemiological situation regarding coronavirus indicates the need to take immediate and effective actions to minimize infection transmission among employees, and to develop procedures for a quick and effective ability to locate the COVID-19 outbreaks in workplaces. Med Pr. 2021;72(1):69–87
Published: 2021
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9. The Amiantus Program in Poland – 20 years of implementation

Author: Beata Świątkowska
Subjects: asbestos, asbestos-related diseases, amiantus program, workers’ health protection, medical surveillance, exposure monitoring, Public aspects of medicine, RA1-1270
Abstract: Background Despite the ban on the production of asbestos-containing materials, introduced in Poland over 20 years ago, new cases of asbestos-related diseases are still being recorded. Systematic control of respiratory function in people exposed to asbestos dust is, therefore, extremely important due to the biological properties of this mineral. Material and Methods The Amiantus preventive medical examination program was undertaken in 2000 to implement the legal rights of former employees of asbestos processing plants for this type of examinations. People who have ever been employed in such factories have been authorized to use preventive medical examinations for the rest of their lives. The research is continuous, spread over time and focused, in particular, on the assessment of the respiratory system. Results Since the beginning of the program, throughout 20 years of its implementation, 8329 people have been examined, including 5199 (62.4%) men for whom a total of 34 454 medical examinations have been carried out. During the program period, the percentage of diagnosed pathologies increased from 8% in 2000 to 25% in 2019. Overall, 2078 asbestos-related diseases were diagnosed among former employees of asbestos processing plants under the Amiantus Program, which accounted for 25% of this group. Among all diseases caused by exposure to asbestos, the most common were: asbestosis (1880 cases – 90.5%), lung cancer (121 cases – 5.8%) and pleural mesothelioma (77 cases – 3.7%). Diseases of pleura in the form of plaques and diffuse pleural thickening were diagnosed in 40% of the examined patients, while radiological pulmonary shadows affected over 65% of former employees of asbestos processing plants. Conclusions The Amiantus Program, thanks to the long observation period, enabled monitoring the health of former employees exposed to asbestos, and created a unique opportunity to carry out epidemiological analyzes. These studies allowed the authors to expand their knowledge of the natural history of asbestos-related diseases. Med Pr. 2020;71(5):595–601
Published: 2020
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10. The occurrence of asbestos-related diseases among former employees of asbestos processing plants in Poland

Author: Beata Świątkowska
Subjects: occupational diseases, occupational exposure, asbestos, mesothelioma, amiantus program, asbestosis, Public aspects of medicine, RA1-1270
Abstract: Background Despite the fact that asbestos is no longer used in production in Poland, there are still new cases of asbestos-related diseases among workers previously exposed to asbestos dust. This situation is related to the specificity of the biological activity of this mineral; the health consequences of asbestos can manifest not only during the exposure but also many years after exposure cessation. The aim of the analysis was to assess the occurrence of occupational diseases among people exposed to asbestos dust, who were examined under the Amiantus program. Material and Methods The research material consisted of the program cards filled by the doctors conducting the examinations as well as radiological images stored on the International Labour Organization form. The analysis covered 8049 people, including 37% of women surveyed in the years 2000−2017. Results In the group of former employees of asbestos processing plants, the occupational disease was diagnosed in 1993 people (25%), including 584 women (19%). The most common was asbestosis (76% of occupational diseases) and pleural disease (17%). Malignant neoplasms accounted for 7% of all cases in this group. The analysis showed an increase in the incidence of respiratory system diseases along with the age of the surveyed persons, their seniority at asbestos processing plants and an increase in cumulative exposure. The chest radiographs revealed radiological changes among 75% of the examined cases, whereas the changes entitling to diagnose asbestosis, according to the criteria applicable in Poland, occurred in 23% of the workers. The adoption of international criteria would increase the incidence of asbestosis as an occupational disease by 19% in the study group. Conclusions The increase in the percentage of people with a diagnosed occupational disease provides evidence for the worsening health status of the former workers as well as a good detection of asbestos-related diseases among employees exposed to asbestos dust in the past. The results of the analysis indicate the need for undertaking a discussion in Poland on the implementation of international criteria for the diagnosis of asbestosis. Med Pr. 2019;70(6):723–31
Published: 2019
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11. Occupational diseases in Poland in 2016

Author: Beata Świątkowska and Wojciech Hanke
Subjects: Incidence, occupational diseases, causative factors, registry, duration of exposure, epidemiological situation, Public aspects of medicine, RA1-1270
Abstract: Background The aim of the work is to present the epidemiological situation in the field of occupational diseases in Poland in 2016. Material and Methods The cases of occupational diseases identified in accordance with the applicable case law system in Poland and reported to the Central Register of Occupational Diseases in 2016 were analyzed. The analysis includes nosologic units, their causative factors as well as gender and age of patients. Absolute numbers and incidence rates per 100 000 employees were presented. Results In 2016, 2119 cases of occupational diseases were recorded in Poland, i.e. 14.3 cases per 100 000 employed persons. The incidence rate was mainly caused by pneumoconioses (28.5%), infectious or parasitic diseases (27.2%), chronic voice disorders (9.7%), chronic diseases of the peripheral nervous system (8.6%) and hearing loss (6.3%). The highest incidence was recorded in the mining and quarrying (329.7 cases), agriculture and forestry (23.8 cases), manufacturing (20 cases) and education (17.9 cases) and healthcare and social work activities (17.7 cases). Conclusions In comparison with 2015, there was an increase in the number of cases of occupational diseases by 1.2%, which was influenced mainly by a larger (by 181 cases) number of pneumoconiosis. The epidemiological situation resulting from occupational diseases in our country, although it covers all identified cases, should be assessed with caution because the suspicion arises underestimation of certain diseases, especially cancer. Med Pr 2018;69(6):643–650
Published: 2018
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12. Occupational diseases among healthcare and social workers in 2009–2016

Author: Beata Świątkowska and Wojciech Hanke
Subjects: occupational diseases, incidence, healthcare, occupation, register, social workers, Public aspects of medicine, RA1-1270
Abstract: Background The aim of the paper is to present statistical data on the occurrence of occupational diseases among healthcare and social workers in Poland in 2009–2016. Material and Methods All cards certifying that a case of occupational disease had been diagnosed in a patient belonging to this occupational group, received by the Central Register of Occupational Diseases, served as the basis of the study. Data is presented in absolute numbers and incidence rates. In the analysis, disease categories, voivodships and occupations were taken into account. Results In 2009–2016, as many as 1462 cases of occupational diseases were diagnosed for healthcare workers. In 2016, the number of cases was 42.6% lower than in 2009. Mean annual incidence rate in these years was 26.3 cases per 100 thousand workers. The most frequent were: infectious and parasitic diseases (64.8% of cases), peripheral nervous system diseases (9.6%), dermal diseases (8.9%), locomotor (8.3%), and chronic vocal organ disorders (3.2%). Among infectious or parasitic diseases, the most cases were viral hepatitis (56%) and tuberculosis (39%). Almost every second case of occupational disease in healthcare workers was detected in the nurses (47.8%). Conclusions The incidence of occupational diseases in total and in the most frequent categories continued to decrease. One of the reasons for the decline is the improvement of working conditions resulting from the application of more modern instruments and apparatus as well as greater knowledge of the risks and the use of appropriate procedures. Med Pr 2018;69(5)
Published: 2018
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13. Analysis of changes in radiographic lung image and lung ventilation disorders in workers occupationally exposed to chrysotile in the past

Author: Elżbieta Cwynar, Beata Świątkowska, and Jarosław Tomczyk
Subjects: occupational exposure, asbestosis, chrysotile, interstitial lung changes, spirometric parameters, cumulative exposure, Public aspects of medicine, RA1-1270
Abstract: Background: The adverse health effects of occupational exposure to asbestos dust may occur several years after first exposure. The objective of the study was to assess the relationship between lesions in the respiratory system and the factors contributing to occupational exposure to asbestos described in the first medical examination as well as to analyze the factors responsible for the progression of these changes in further medical tests. Material and Methods: The study group comprised 591 former workers of asbestos processing plant “Gambit” in Lubawka. The results of medical examinations carried out in 2001–2012 were assessed. Statistical inference was performed based on bilateral significance tests at the 0.05 level of significance. Results: A higher risk of interstitial lung changes along with an increase in the cumulative concentration of asbestos was indicated; for the employees with the highest exposure, the adjusted odds ratio (OR) was 1.63 (95% confidence interval (CI): 0.99–2.71), while for changes with the severity degree qualifying for asbestosis diagnosis, the risk was significantly increased, over fivefold higher, compared to subjects employed in the lowest exposure. The analysis of the relationship between the progression of interstitial changes and the exposure to asbestos dust showed a fourfold higher risk of the progression in workers employed in the highest exposure. Mean values of FEV1 (forced expiratory volume in 1 s), FVC (forced vital capacity), FEV1/FVC (forced expiratory volume in 1 s to forced vital capacity) were significantly lower in the subjects working in a higher asbestos exposure. The effect of tobacco smoking on the occurrence of interstitial lung changes and their progression was also confirmed. Conclusions: The results of prophylactic medical examinations of the health status of workers formerly employed in the plants using chrysotile indicate the importance andthe need for a long-term clinical follow-up and the promotion of anti-smoking prevention in this group of former employees. Med Pr 2017;68(2):247–258
Published: 2017
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14. Occupational diseases among farmers in Poland

Author: Neonila Szeszenia-Dąbrowska, Beata Świątkowska, and Urszula Wilczyńska
Subjects: occupational diseases, epidemiology, borreliosis, incidence, agriculture, employees, Public aspects of medicine, RA1-1270
Abstract: Background: The study’s objective is to present epidemiological situation concerning the incidence of occupational diseases among farmers in Poland. Material and Methods: All 3438 cases of occupational diseases diagnosed among farmers and obligatorily reported to the Central Register of Occupational Diseases (covering all the national territory and all the cases of occupational diseases diagnosed in Poland after 1970) over the years 2000–2014 were subjected to analysis. Results: The annual incidence in the analyzed period ranged 5–14 per 100 000 farmers. The analysis showed that about 90% of pathologies were induced by the biological agents. Almost every third pathology due to biological agents had allergic origin. Infectious and parasitic diseases accounted for 62% of the cases. Among them the diseases carried by ticks (93%) – borreliosis (85.8%) and tick-borne encephalitis (7.2%) were the most frequent ones. The age of farmers, in the case of whom bronchial asthma and allergic rhinitis were diagnosed, was significantly higher than the age of remaining employees of the national economy, in which these occupational diseases were recognized. Conclusions: The study indicates the necessity to introduce periodic health examinations programs focusing on agricultural workers to monitor health and well-being and improve working conditions and the working environment. Med Pr 2016;67(2):163–171
Published: 2016
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15. Asbestos related diseases among workers of asbestos processing plants in relation to type of production and asbestos use

Author: Neonila Szeszenia-Dąbrowska, Beata Świątkowska, Wojciech Sobala, Zuzanna Szubert, and Urszula Wilczyńska
Subjects: asbestosis, mesothelioma, asbestos processing plants, asbestos consumption, chrysotile, Public aspects of medicine, RA1-1270
Abstract: Background: Asbestos dust is one of the most dangerous pneumoconiotic and carcinogenic agents. The aim of this study was to assess the occurrence of asbestosis and pleural mesothelioma, depending on asbestos consumption and the type of manufactured products, among former asbestos workers in Poland. Material and Methods: The study subjects included employees of 18 large state-owned asbestos processing enterprises operating in the Polish market in 1945–1998. The study is based on data obtained from asbestos company records and the Central Register of Occupational Diseases data on the cases of asbestosis and mesothelioma for the period from 1970 till 2012 as well as data from Amiantus Programme. The analysis was performed for 5 sectors comprising plants classified according to the products manufactured and applied production technology. Results: In the study period, 2160 cases of asbestosis and 138 cases of mesothelioma were reported. The plants processed a total of about 2 million tonnes of asbestos, including about 7.5% of crocidolite. Total asbestos consumption was a strong predictor of the rate of asbestosis incidence (R2 = 0.68, p = 0.055). The highest risk occurrence of asbestosis was observed in the production of textiles and sealing products. Mesothelioma occurred only in plants where crocidolite had been ever processed. Conclusions: Total asbestos consumption was a strong predictor of the rate of asbestosis incidence. The observation confirms the relationship between exposure to crocidolite and the occurrence of mesothelioma, regardless of the manufactured products, and suggests the absence of such a link for the total volume of asbestos consumption. Med Pr 2015;66(1):1–9
Published: 2015
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16. Effect of a 10-week yoga programme on the quality of life of women after breast cancer surgery

Author: Aleksandra Andysz, Dorota Merecz, Aleksandra Wójcik, Beata Świątkowska, Kamilla Sierocka, and Anna Najder
Subjects: yoga, rehabilitation, quality of life, breast cancer, mastectomy, Medicine
Abstract: Aim of the study : The following research is aimed at determining the effect of yoga on the quality of life of women after breast cancer surgery. Material and methods : A 10-week yoga programme included 90-minute yoga lessons once a week. To estimate the quality of life, questionnaires developed by the European Organisation for Research and Treatment of Cancer (QLQ-C30 and QLQ-BR23) were used. An experimental group consisted of 12 women who practised yoga, a control group – of 16 women who did not. Between groups there were no differences in age, time from operation and characteristics associated with disease, treatment and participation in rehabilitation. Results : Our results revealed an improvement of general health and quality of life, physical and social functioning as well as a reduction of difficulties in daily activities among exercising women. Also their future prospects enhanced – they worried less about their health than they used to before participating in the programme. As compared to baseline, among exercising women, fatigue, dyspnoea and discomfort (pain, swelling, sensitivity) in the arm and breast on the operated side decreased. Conclusions : Participation in the exercising programme resulted in an improvement of physical functioning, reduction of fatigue, dyspnoea, and discomfort in the area of the breast and arm on the operated side. Based on our results and those obtained in foreign studies, we conclude that rehabilitation with the use of yoga practice improves the quality of life of the patients after breast cancer surgery. However, we recommend further research on this issue in Poland.
Published: 2014
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17. Legal aspects of workers' health protection against asbestos in Poland in the light of the EU legal framework

Author: Beata Świątkowska
Subjects: asbestos, occupational exposure, health care, legislation, Public aspects of medicine, RA1-1270
Abstract: Legal protection of human life and health against asbestos dust-related hazards is carried out in various dimensions of the European Union law mainly focused on health protection of employees and responsibilities of employers, as well as on environmental protection. The aim of this paper is to present the Community legal issues emphasizing the protection of workers against asbestos and discuss the current state of Polish law in this regard. An analysis of recent legal solutions provides a comprehensive look at the extensive steps currently taken to reduce the risk of exposure to asbestos dust. The legislation in the European Union, including Poland indicates sound foundations for assuring health and safety of workers still exposed to asbestos and those formerly employed in asbestos processing plants. It is only postulated to unify high standards of healthcare to provide all workers employed in asbestos exposure with equal and particular legal protection. Med Pr 2013;64(5):689–697
Published: 2013
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18. An Unjustified Prognosis of the Number of Asbestos-Related Lung Cancer Cases Caused by an Increase in Airborne Asbestos Concentrations as a Result of Removing of Asbestos-Cement Products

Author: Neonila Szeszenia-Dąbrowska and Beata Świątkowska
Subjects: Technology, Medicine, Science
Published: 2015
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19. Supplementary Tables S1-S6 from Effect of Occupational Exposures on Lung Cancer Susceptibility: A Study of Gene–Environment Interaction Analysis

Author: Paolo Boffetta, Vladimir Janout, Lenka Foretova, Isabelle Stücker, Valerie Gaborieau, Vladimir Bencko, Dana Mates, Eleonora Fabianova, Jolanta Lissowska, Peter Rudnai, Beata Świątkowska, Neonila Szeszenia-Dabrowska, David Zaridze, Paul Brennan, Samantha Sartori, and Jyoti Malhotra
Abstract: Supplementary Tables S1-S6. Table S1. Number and percentage of cases and control with exposure to each occupational agent. Table S2. SNP-level significant occupational exposure interactions for known occupational lung carcinogens. Table S3. SNP-level significant occupational exposure interactions for occupational exposures with increased risk for lung cancer not clear. Table S4. Gene-level significant occupational exposure interactions for occupational exposures with increased risk for lung cancer not clear. Table S5. Significant genomic regions for occupational exposure interactions and the significant genes identified in these regions. Table S6. Main categories of proteins coded by the significant genes identified by the gene-occupational interaction analyses.
Published: 2023

20. Data from Effect of Occupational Exposures on Lung Cancer Susceptibility: A Study of Gene–Environment Interaction Analysis

Author: Paolo Boffetta, Vladimir Janout, Lenka Foretova, Isabelle Stücker, Valerie Gaborieau, Vladimir Bencko, Dana Mates, Eleonora Fabianova, Jolanta Lissowska, Peter Rudnai, Beata Świątkowska, Neonila Szeszenia-Dabrowska, David Zaridze, Paul Brennan, Samantha Sartori, and Jyoti Malhotra
Abstract: Background: Occupational exposures are known risk factors for lung cancer. Role of genetically determined host factors in occupational exposure–related lung cancer is unclear.Methods: We used genome-wide association (GWA) data from a case–control study conducted in 6 European countries from 1998 to 2002 to identify gene–occupation interactions and related pathways for lung cancer risk. GWA analysis was performed for each exposure using logistic regression and interaction term for genotypes, and exposure was included in this model. Both SNP-based and gene-based interaction P values were calculated. Pathway analysis was performed using three complementary methods, and analyses were adjusted for multiple comparisons. We analyzed 312,605 SNPs and occupational exposure to 70 agents from 1,802 lung cancer cases and 1,725 cancer-free controls.Results: Mean age of study participants was 60.1 ± 9.1 years and 75% were male. Largest number of significant associations (P ≤ 1 × 10−5) at SNP level was demonstrated for nickel, brick dust, concrete dust, and cement dust, and for brick dust and cement dust at the gene-level (P ≤ 1 × 10−4). Approximately 14 occupational exposures showed significant gene–occupation interactions with pathways related to response to environmental information processing via signal transduction (P < 0.001 and FDR < 0.05). Other pathways that showed significant enrichment were related to immune processes and xenobiotic metabolism.Conclusion: Our findings suggest that pathways related to signal transduction, immune process, and xenobiotic metabolism may be involved in occupational exposure–related lung carcinogenesis.Impact: Our study exemplifies an integrative approach using pathway-based analysis to demonstrate the role of genetic variants in occupational exposure–related lung cancer susceptibility. Cancer Epidemiol Biomarkers Prev; 24(3); 570–9. ©2015 AACR.
Published: 2023

21. Do Young People Perceive E-Cigarettes and Heated Tobacco as Less Harmful Than Traditional Cigarettes? A Survey from Poland

Author: Ilona Wężyk-Caba, Dorota Kaleta, Radosław Zajdel, Łukasz Balwicki, and Beata Świątkowska
Subjects: Male, Tobacco Use, Cross-Sectional Studies, Adolescent, Health, Toxicology and Mutagenesis, Surveys and Questionnaires, Tobacco, Public Health, Environmental and Occupational Health, Humans, Poland, Tobacco Products, Electronic Nicotine Delivery Systems, e-cigarettes, heated-tobacco products, harm perception, public health, tobacco, cigarette
Abstract: New tobacco and nicotine-containing products are gaining more popularity among young people. The aim of this study is to assess the prevalence in the perception of e-cigarettes and heated tobacco among young people in Poland and to assess the factors that are positively correlated with this perception. A cross-sectional study covering almost 12,000 adolescents aged 13–18 was carried out in January and February 2020. Data were collected through a detailed questionnaire recommended for monitoring tobacco use by adolescents. The results of the study showed that 52.2% and 61.9% of young people perceive e-cigarettes and heated tobacco products as less harmful compared to traditional cigarettes, respectively. The risk of perceiving these products as less harmful than smoking was higher among older adolescents, males, those who used these products, had a family member who used e-cigarettes/heated tobacco products and those who were exposed to tobacco advertising. Our study indicates the need to consider the coexistence of traditional smoking, e-cigarettes and heated tobacco and its impact on the assessment of the harmfulness of these products. More research is needed to better understand how perceptions of the harmfulness of e-cigarettes and heated tobacco affect their subsequent use.
Published: 2022
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22. The use of umbilical cord‐derived mesenchymal stem cells in patients with muscular dystrophies: Results from compassionate use in real‐life settings

Author: Dariusz Boruczkowski, Beata Świątkowska-Flis, Dominika Sługocka, and Izabela Zdolińska-Malinowska
Subjects: Compassionate Use Trials, Medicine (General), Necrosis, medicine.medical_treatment, Inflammation, Mesenchymal Stem Cell Transplantation, Umbilical cord, stem cell therapy, Muscular Dystrophies, Umbilical Cord, R5-920, Human Clinical Article, medicine, Back pain, Humans, Wharton Jelly, QH573-671, business.industry, Wharton's jelly, Mesenchymal stem cell, Dystrophy, Mesenchymal Stem Cells, Cell Biology, General Medicine, Stem-cell therapy, muscular diseases, medicine.anatomical_structure, dystrophy, Anesthesia, Stem cell, medicine.symptom, musculoskeletal disorders, Cytology, business, Developmental Biology
Abstract: Muscular dystrophies are genetically determined progressive diseases with no cause‐related treatment and limited supportive treatment. Although stem cells cannot resolve the underlying genetic conditions, their wide‐ranging therapeutic properties may ameliorate the consequences of the involved mutations (oxidative stress, inflammation, mitochondrial dysfunction, necrosis). In this study, we administered advanced therapy medicinal product containing umbilical cord‐derived mesenchymal stem cells (UC‐MSCs) to 22 patients with muscular dystrophies. Patients received one to five intravenous and/or intrathecal injections per treatment course in up to two courses every 2 months. Four standard doses of 10, 20, 30, or 40 × 106 UC‐MSCs per injection were used; the approximate dose per kilogram was 1 × 106 UC‐MSCs. Muscle strength was measured with a set of CQ Dynamometer computerized force meters (CQ Elektronik System, Czernica, Poland). Statistical analysis of muscle strength in the whole group showed significant improvement in the right upper limb (+4.0 N); left hip straightening (+4.5 N) and adduction (+0.5 N); right hip straightening (+1.0 N), bending (+7.5 N), and adduction (+2.5 N); right knee straightening (+8.5 N); left shoulder revocation (+13.0 N), straightening (+5.5 N), and bending (+6.5 N); right shoulder adduction (+3.0 N), revocation (+10.5 N), and bending (+5 N); and right elbow straightening (+9.5 N); all these differences were statistically significant. In six patients (27.3%) these changes led to improvement in gait analysis or movement scale result. Only one patient experienced transient headache and lower back pain after the last administration. In conclusion, UC‐MSC therapy may be considered as a therapeutic option for these patients., The individual response in 22 patients who received Wharton's jelly‐derived mesenchymal stem cells as an experimental therapy for muscular dystrophy was heterogenous. Graphical abstract presents locations for which statistical analysis of muscle strength [N] showed significant improvement in the whole group.
Published: 2021

23. Respirable crystalline silica and lung cancer in community-based studies: impact of job-exposure matrix specifications on exposure–response relationships

Author: Johan Ohlander, Hans Kromhout, Roel Vermeulen, Lützen Portengen, Benjamin Kendzia, Barbara Savary, Domenico Cavallo, Andrea Cattaneo, Enrica Migliori, Lorenzo Richiardi, Nils Plato, Heinz-Erich Wichmann, Stefan Karrasch, Dario Consonni, Maria Teresa Landi, Neil E Caporaso, Jack Siemiatycki, Per Gustavsson, Karl-Heinz Jöckel, Wolfgang Ahrens, Hermann Pohlabeln, Guillermo Fernández-Tardón, David Zaridze, Jolanta Lissowska Jolanta Lissowska, Beata Swiatkowska Beata Swiatkowska, John K Field John K Field, John R McLaughlin, Paul A Demers, Tamas Pandics, Francesco Forastiere, Eleonora Fabianova, Miriam Schejbalova, Lenka Foretova, Vladimir Janout, Dana Mates, Christine Barul, Thomas Brüning, Thomas Behrens, Kurt Straif, Joachim Schüz, Ann Olsson, and Susan Peters
Subjects: case-control study, cancer, lung cancer, job-exposure matrix, general population, lung neoplasm, jem, quantitative exposure assessment, exposure–response, respirable crystalline silica, respirable quartz exposure, Public aspects of medicine, RA1-1270
Abstract: OBJECTIVES: The quantitative job-exposure matrix SYN-JEM consists of various dimensions: job-specific estimates, region-specific estimates, and prior expert ratings of jobs by the semi-quantitative DOM-JEM. We analyzed the effect of different JEM dimensions on the exposure–response relationships between occupational silica exposure and lung cancer risk to investigate how these variations influence estimates of exposure by a quantitative JEM and associated health endpoints. METHODS: Using SYN-JEM, and alternative SYN-JEM specifications with varying dimensions included, cumulative silica exposure estimates were assigned to 16 901 lung cancer cases and 20 965 controls pooled from 14 international community-based case-control studies. Exposure–response relationships based on SYN-JEM and alternative SYN-JEM specifications were analyzed using regression analyses (by quartiles and log-transformed continuous silica exposure) and generalized additive models (GAM), adjusted for age, sex, study, cigarette pack-years, time since quitting smoking, and ever employment in occupations with established lung cancer risk. RESULTS: SYN-JEM and alternative specifications generated overall elevated and similar lung cancer odds ratios ranging from 1.13 (1st quartile) to 1.50 (4th quartile). In the categorical and log-linear analyses SYN-JEM with all dimensions included yielded the best model fit, and exclusion of job-specific estimates from SYN-JEM yielded the poorest model fit. Additionally, GAM showed the poorest model fit when excluding job-specific estimates. CONCLUSION: The established exposure–response relationship between occupational silica exposure and lung cancer was marginally influenced by varying the dimensions of SYN-JEM. Optimized modelling of exposure–response relationships will be obtained when incorporating all relevant dimensions, namely prior rating, job, time, and region. Quantitative job-specific estimates appeared to be the most prominent dimension for this general population JEM.
Published: 2024
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24. Author response for 'Risk factors for head and neck cancer in more and less developed countries: Analysis from the INHANCE Consortium'

Author: null Neerav Goyal, null Max Hennessy, null Erik Lehman, null Wenxue Lin, null Antonio Agudo, null Wolfgang Ahrens, null Stefania Boccia, null Paul Brennan, null Hermann Brenner, null Gabriella Cadoni, null Cristina Canova, null Chu Chen, null David Conway, null Maria Paula Curado, null Luigino Dal Maso, null Alexander W. Daudt, null Valeria Edefonti, null Eleonora Fabianova, null Leticia Fernandez, null Silvia Franceschi, null Werner Garavello, null Maura Gillison, null Richard B. Hayes, null Claire Healy, null Rolando Herrero, null Ivana Holcatova, null Jossy L. Kanda, null Karl Kelsey, null Bo T Hansen, null Rosalina Koifman, null Pagona Lagiou, null Carlo La Vecchia, null Fabio Levi, null Guojun Li, null Jolanta Lissowska, null Rossana Mendoza López, null Danièle Luce, null Gary Macfarlane, null Dana Mates, null Keitaro Matsuo, null Michael McClean, null Ana Menezes, null Gwenn Menvielle, null Hal Morgenstern, null Kirsten Moysich, null Eva Negri, null Andrew F. Olshan, null Tamas Pandics, null Jerry Polesel, null Mark Purdue, null Loredana Radoi, null Heribert Ramroth, null Lorenzo Richiardi, null Stimson Schantz, null Stephen M. Schwartz, null Diego Serraino, null Oxana Shangina, null Elaine Smith, null Erich M. Sturgis, null Beata Świątkowska, null Peter Thomson, null Thomas L. Vaughan, null Marta Vilensky, null Deborah M. Winn, null Victor Wunsch‐Filho, null Guo‐Pei Yu, null Jose P. Zevallos, null Zuo‐Feng Zhang, null Tongzhang Zheng, null Ariana Znaor, null Paolo Boffetta, null Mia Hashibe, null Yuan‐Chin Amy Lee, and null Joshua E Muscat
Published: 2022

25. Risk factors for head and neck cancer in more and less developed countries: Analysis from the INHANCE consortium

Author: Neerav Goyal, Max Hennessy, Erik Lehman, Wenxue Lin, Antonio Agudo, Wolfgang Ahrens, Stefania Boccia, Paul Brennan, Hermann Brenner, Gabriella Cadoni, Cristina Canova, Chu Chen, David Conway, Maria Paula Curado, Luigino Dal Maso, Alexander W. Daudt, Valeria Edefonti, Eleonora Fabianova, Leticia Fernandez, Silvia Franceschi, Werner Garavello, Maura Gillison, Richard B. Hayes, Claire Healy, Rolando Herrero, Ivana Holcatova, Jossy L. Kanda, Karl Kelsey, Bo T. Hansen, Rosalina Koifman, Pagona Lagiou, Carlo La Vecchia, Fabio Levi, Guojun Li, Jolanta Lissowska, Rossana Mendoza López, Danièle Luce, Gary Macfarlane, Dana Mates, Keitaro Matsuo, Michael McClean, Ana Menezes, Gwenn Menvielle, Hal Morgenstern, Kirsten Moysich, Eva Negri, Andrew F. Olshan, Tamas Pandics, Jerry Polesel, Mark Purdue, Loredana Radoi, Heribert Ramroth, Lorenzo Richiardi, Stimson Schantz, Stephen M. Schwartz, Diego Serraino, Oxana Shangina, Elaine Smith, Erich M. Sturgis, Beata Świątkowska, Peter Thomson, Thomas L. Vaughan, Marta Vilensky, Deborah M. Winn, Victor Wunsch‐Filho, Guo‐Pei Yu, Jose P. Zevallos, Zuo‐Feng Zhang, Tongzhang Zheng, Ariana Znaor, Paolo Boffetta, Mia Hashibe, Yuan‐Chin A. Lee, Joshua E. Muscat, Pennsylvania State University (Penn State), Penn State System, Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Glasgow, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, University of Bologna/Università di Bologna, University of Utah School of Medicine [Salt Lake City], This work was supported by the European Community (5th Framework Programme) grant no QLK1-CT-2001-00182, INHANCE Pooled Data Project: NCI R03CA113157NIDCR R03DE016611 and the Intramural Program of the NCI, NIH, United States. Individual studies were supported by: Aviano study: Italian Association for Research on Cancer (AIRC), Italian League Against Cancer and Italian Ministry of Research, Baltimore study: NIH [DE016631], Boston study: NIH [R01CA078609, R01CA100679], Central Europe study: World Cancer Research Fund and the European Commission INCO-COPERNICUS Program [Contract No. IC15- CT98-0332], France 2001–2007 (ICARE): French National Research Agency (ANR), French National Cancer Institute (INCA), French Agency for Food, Environmental and Occupational Health and Safety (ANSES), French Institute for Public Health Surveillance (InVS), Fondation pour la Recherche Médicale (FRM), Fondation de France, Fondation ARC pour la Recherche sur le Cancer, French Ministry of Labour (Direction Générale du Travail), French Ministry of Health (Direction Générale de la Santé), Germany-Heidelberg study: grant No. 01GB9702/3 from the German Ministry of Education and Research, IARC Multicenter study: Fondo de Investigaciones Sanitarias (FIS) of the Spanish Government [FIS 97/0024, FIS 97/0662, BAE 01/5013], International Union Against Cancer (UICC), and Yamagiwa-Yoshida Memorial International Cancer Study Grant, Iowa study: NIH [NIDCR R01DE011979, NIDCR R01DE013110, NIH FIRCA TW001500] and Veterans Affairs Merit Review Funds, Italy multicenter study: Italian Association for Research on Cancer (AIRC), Italian League Against Cancer and Italian Ministry of Research, Japan study (2001–2005): Scientific Research grant from the Ministry of Education, Science, Sports, Culture and Technology of Japan (17015052) and grant for the Third-Term Comprehensive 10-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan (H20-002), Latin America study: Fondo para la Investigacion Cientifica y Tecnologica (FONCYT) Argentina, IMIM (Barcelona), Fundaco de Amparo a` Pesquisa no Estado de Sao Paulo (FAPESP) [No 01/01768-2, 04/12054-9, 10/51168-0], and European Commission [IC18-CT97-0222], Los Angeles Study: NIH [P50CA090388, R01DA011386, R03CA077954, T32CA009142, U01CA096134, R21ES011667] and the Alper Research Program for Environmental Genomics of the UCLA Jonsson Comprehensive Cancer Center, MSKCC study: NIH [R01CA051845], Northeast US study: NIH R01DE013158, North Carolina Study: NIH [R01CA061188], & NIEHS [P30ES010126], NY multicenter study: NIH [P01CA068384 K07CA104231], Milan study: Italian Association for Research on Cancer (AIRC), Puerto Rico study: jointly funded by National Institutes of Health (NCI) US and NIDCR intramural programs, Rome study: AIRC (Italian Agency for Research on Cancer), Saarland study: Ministry of Science, Research and Arts Baden-Wurttemberg, Seattle study: NIH [R01CA048996, R01DE012609], Seattle-LEO study: NIH [R01CA030022., and ANR-05-SEST-0033,ICARE,Facteurs de risques professionnels des cancers du poumon et des voies aéro-digestives supérieures Etude ICARE (Investigations sur les Cancers Respiratoires et l'Environnement professionnel)(2005)
Subjects: socioeconomic status, head and neck, INHANCE, Otorhinolaryngology, alcohol use, head and neck cancer, smoking, [SDV.CAN]Life Sciences [q-bio]/Cancer, Settore MED/31 - OTORINOLARINGOIATRIA, General Dentistry
Abstract: Objective:\ud We analyzed the pooled case-control data from the International Head and Neck Cancer Epidemiology (INHANCE) consortium to compare cigarette smoking and alcohol consumption risk factors for head and neck cancer between less developed and more developed countries.\ud \ud Subjects and Methods:\ud The location of each study was categorized as either a less developed or more developed country. We compared the risk of overall head and neck cancer and cancer of specific anatomic subsites associated with cigarette smoking and alcohol consumption. Additionally, age and sex distribution between categories was compared.\ud \ud Results:\ud The odds ratios for head and neck cancer sites associated with smoking duration differed between less developed and more developed countries. Smoking greater than 20 years conferred a higher risk for oral cavity and laryngeal cancer in more developed countries, whereas the risk was greater for oropharynx and hypopharynx cancer in less developed countries. Alcohol consumed for more than 20 years conferred a higher risk for oropharynx, hypopharynx, and larynx cancer in less developed countries. The proportion of cases that were young (
Published: 2022

26. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

Author: Gabriëlla A.M. Blokland, Jakob Grove, Chia-Yen Chen, Chris Cotsapas, Stuart Tobet, Robert Handa, David St Clair, Todd Lencz, Bryan J. Mowry, Sathish Periyasamy, Murray J. Cairns, Paul A. Tooney, Jing Qin Wu, Brian Kelly, George Kirov, Patrick F. Sullivan, Aiden Corvin, Brien P. Riley, Tõnu Esko, Lili Milani, Erik G. Jönsson, Aarno Palotie, Hannelore Ehrenreich, Martin Begemann, Agnes Steixner-Kumar, Pak C. Sham, Nakao Iwata, Daniel R. Weinberger, Pablo V. Gejman, Alan R. Sanders, Joseph D. Buxbaum, Dan Rujescu, Ina Giegling, Bettina Konte, Annette M. Hartmann, Elvira Bramon, Robin M. Murray, Michele T. Pato, Jimmy Lee, Ingrid Melle, Espen Molden, Roel A. Ophoff, Andrew McQuillin, Nicholas J. Bass, Rolf Adolfsson, Anil K. Malhotra, Nicholas G. Martin, Janice M. Fullerton, Philip B. Mitchell, Peter R. Schofield, Andreas J. Forstner, Franziska Degenhardt, Sabrina Schaupp, Ashley L. Comes, Manolis Kogevinas, José Guzman-Parra, Andreas Reif, Fabian Streit, Lea Sirignano, Sven Cichon, Maria Grigoroiu-Serbanescu, Joanna Hauser, Jolanta Lissowska, Fermin Mayoral, Bertram Müller-Myhsok, Beata Świątkowska, Thomas G. Schulze, Markus M. Nöthen, Marcella Rietschel, John Kelsoe, Marion Leboyer, Stéphane Jamain, Bruno Etain, Frank Bellivier, John B. Vincent, Martin Alda, Claire O’Donovan, Pablo Cervantes, Joanna M. Biernacka, Mark Frye, Susan L. McElroy, Laura J. Scott, Eli A. Stahl, Mikael Landén, Marian L. Hamshere, Olav B. Smeland, Srdjan Djurovic, Arne E. Vaaler, Ole A. Andreassen, Bernhard T. Baune, Tracy Air, Martin Preisig, Rudolf Uher, Douglas F. Levinson, Myrna M. Weissman, James B. Potash, Jianxin Shi, James A. Knowles, Roy H. Perlis, Susanne Lucae, Dorret I. Boomsma, Brenda W.J.H. Penninx, Jouke-Jan Hottenga, Eco J.C. de Geus, Gonneke Willemsen, Yuri Milaneschi, Henning Tiemeier, Hans J. Grabe, Alexander Teumer, Sandra Van der Auwera, Uwe Völker, Steven P. Hamilton, Patrik K.E. Magnusson, Alexander Viktorin, Divya Mehta, Niamh Mullins, Mark J. Adams, Gerome Breen, Andrew M. McIntosh, Cathryn M. Lewis, David M. Hougaard, Merete Nordentoft, Ole Mors, Preben B. Mortensen, Thomas Werge, Thomas D. Als, Anders D. Børglum, Tracey L. Petryshen, Jordan W. Smoller, Jill M. Goldstein, Stephan Ripke, Benjamin M. Neale, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Richard A. Belliveau, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberly D. Chambert, Raymond C.K. Chan, Ronald Y.L. Chen, Eric Y.H. Chen, Wei Cheng, Eric F.C. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee Chee Keong, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Sandra Meier, Carin J. Meijer, Bela Melegh, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Vihra Milanova, Younes Mokrab, Derek W. Morris, Kieran C. Murphy, Inez Myin-Germeys, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O’Callaghan, Colm O’Dushlaine, F. Anthony O’Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Ulrich Schall, Christian R. Schubert, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Hon-Cheong So, Chris C.A. Spencer, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H.M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Douglas H.R. Blackwood, Ariel Darvasi, Enrico Domenici, Michael Gill, Hugh Gurling, Christina M. Hultman, Assen V. Jablensky, Kenneth S. Kendler, Jo Knight, Qingqin S. Li, Jianjun Liu, Steven A. McCarroll, Jennifer L. Moran, Michael J. Owen, Carlos N. Pato, Danielle Posthuma, Pamela Sklar, Jens R. Wendland, Mark J. Daly, Michael C. O’Donovan, Peter Donnelly, Ines Barroso, Jenefer M. Blackwell, Matthew A. Brown, Juan P. Casas, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Gavin Band, Céline Bellenguez, Colin Freeman, Eleni Giannoulatou, Garrett Hellenthal, Richard Pearson, Matti Pirinen, Amy Strange, Zhan Su, Damjan Vukcevic, Cordelia Langford, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Sarah Edkins, Matthew Gillman, Emma Gray, Rhian Gwilliam, Naomi Hammond, Sarah E. Hunt, Alagurevathi Jayakumar, Jennifer Liddle, Owen T. McCann, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Avazeh Tashakkori-Ghanbaria, Matthew Waller, Paul Weston, Pamela Whittaker, Sara Widaa, Mark I. McCarthy, Maria J. Arranz, Steven Bakker, Stephan Bender, Benedicto Crespo-Facorro, Jeremy Hall, Conrad Iyegbe, Stephen Lawrie, Kuang Lin, Don H. Linszen, Ignacio Mata, Muriel Walshe, Matthias Weisbrod, Durk Wiersma, Vassily Trubetskoy, Yunpeng Wang, Jonathan R.I. Coleman, Héléna A. Gaspar, Christiaan A. de Leeuw, Jennifer M. Whitehead Pavlides, Maciej Trzaskowski, Enda M. Byrne, Liam Abbott, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A. Badner, Marie Bækvad-Hansen, Jack D. Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Carsten Bøcker Pedersen, Erlend Bøen, Marco P. Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, Miquel Casas, Felecia Cerrato, Kimberly Chambert, Alexander W. Charney, Danfeng Chen, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W. Craig, Cristiana Cruceanu, Piotr M. Czerski, Anders M. Dale, Simone de Jong, Jurgen Del-Favero, J. Raymond DePaulo, Amanda L. Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Chun Chieh Fan, Sascha B. Fischer, Matthew Flickinger, Tatiana M. Foroud, Liz Forty, Christine Fraser, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D. Gordon, Katherine Gordon-Smith, Elaine K. Green, Melissa J. Green, Tiffany A. Greenwood, Weihua Guan, Martin Hautzinger, Urs Heilbronner, Maria Hipolito, Dominic Holland, Laura Huckins, Jessica S. Johnson, Radhika Kandaswamy, Robert Karlsson, Sarah Kittel-Schneider, Anna C. Koller, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B. Lawson, Markus Leber, Phil H. Lee, Shawn E. Levy, Jun Z. Li, Chunyu Liu, Anna Maaser, Donald J. MacIntyre, Pamela B. Mahon, Lina Martinsson, Steve McCarroll, Peter McGuffin, Melvin G. McInnis, James D. McKay, Helena Medeiros, Sarah E. Medland, Fan Meng, Grant W. Montgomery, Thomas W. Mühleisen, Hoang Nguyen, Caroline M. Nievergelt, Annelie Nordin Adolfsson, Evaristus A. Nwulia, Claire O'Donovan, Loes M. Olde Loohuis, Anil P.S. Ori, Lilijana Oruc, Urban Ösby, Amy Perry, Andrea Pfennig, Eline J. Regeer, Céline S. Reinbold, John P. Rice, Fabio Rivas, Margarita Rivera, Euijung Ryu, Cristina Sánchez-Mora, Alan F. Schatzberg, William A. Scheftner, Nicholas J. Schork, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D. Shilling, Claire Slaney, Janet L. Sobell, Christine Søholm Hansen, Anne T. Spijker, Michael Steffens, John S. Strauss, Szabolcs Szelinger, Robert C. Thompson, Thorgeir E. Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Stanley J. Watson, Thomas W. Weickert, Simon Xi, Wei Xu, Allan H. Young, Peter Zandi, Peng Zhang, Sebastian Zöllner, Abdel Abdellaoui, Tracy M. Air, Till F.M. Andlauer, Silviu-Alin Bacanu, Aartjan T.F. Beekman, Elisabeth B. Binder, Julien Bryois, Henriette N. Buttenschøn, Na Cai, Enrique Castelao, Jane Hvarregaard Christensen, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Gregory E. Crawford, Gail Davies, Ian J. Deary, Eske M. Derks, Nese Direk, Conor V. Dolan, Erin C. Dunn, Thalia C. Eley, Farnush Farhadi Hassan Kiadeh, Hilary K. Finucane, Jerome C. Foo, Fernando S. Goes, Lynsey S. Hall, Thomas F. Hansen, Ian B. Hickie, Georg Homuth, Carsten Horn, David M. Howard, Marcus Ising, Rick Jansen, Ian Jones, Lisa A. Jones, Eric Jorgenson, Isaac S. Kohane, Julia Kraft, Warren W. Kretzschmar, Zoltán Kutalik, Yihan Li, Penelope A. Lind, Dean F. MacKinnon, Robert M. Maier, Jonathan Marchini, Hamdi Mbarek, Patrick McGrath, Christel M. Middeldorp, Evelin Mihailov, Francis M. Mondimore, Sara Mostafavi, Matthias Nauck, Bernard Ng, Michel G. Nivard, Dale R. Nyholt, Paul F. O'Reilly, Hogni Oskarsson, Jodie N. Painter, Roseann E. Peterson, Wouter J. Peyrot, Giorgio Pistis, Jorge A. Quiroz, Per Qvist, Saira Saeed Mirza, Robert Schoevers, Eva C. Schulte, Ling Shen, Stanley I. Shyn, Grant C.B. Sinnamon, Johannes H. Smit, Daniel J. Smith, Katherine E. Tansey, Henning Teismann, Wesley Thompson, Pippa A. Thomson, Matthew Traylor, André G. Uitterlinden, Daniel Umbricht, Albert M. van Hemert, Shantel Marie Weinsheimer, Jürgen Wellmann, Yang Wu, Hualin S. Xi, Jian Yang, Futao Zhang, Volker Arolt, Klaus Berger, Udo Dannlowski, Katharina Domschke, Caroline Hayward, Andrew C. Heath, Stefan Kloiber, Glyn Lewis, Pamela AF. Madden, Patrik K. Magnusson, Preben Bo Mortensen, Michael C. O'Donovan, Sara A. Paciga, Nancy L. Pedersen, David J. Porteous, Catherine Schaefer, Henry Völzke, Marco Bortolato, Janita Bralten, Cynthia M. Bulik, Christie L. Burton, Caitlin E. Carey, Lea K. Davis, Laramie E. Duncan, Howard J. Edenberg, Lauren Erdman, Stephen V. Faraone, Slavina B. Goleva, Wei Guo, Christopher Hübel, Laura M. Huckins, Ekaterina A. Khramtsova, Joanna Martin, Carol A. Mathews, Elise Robinson, Eli Stahl, Barbara E. Stranger, Michela Traglia, Raymond K. Walters, Lauren A. Weiss, Stacey J. Winham, Yin Yao, Kristjar Skajaa, Markus Nöthen, Michael Owen, Robert H. Yolken, Niels Plath, Jonathan Mill, Daniel Geschwind, Psychiatry 1, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, Centre of Excellence in Complex Disease Genetics, Research Programme of Molecular Medicine, Research Programs Unit, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, Functional Genomics, Biological Psychology, APH - Mental Health, APH - Methodology, Sociology and Social Gerontology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Blokland, Gabriella AM, Grove, Jakob, Chen, Chia Yen, Cotsapas, Chris, Tobet, Stuart, Handa, Robert, Lee, Sang Hong, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium, iPSYCH, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Human genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Reproduction & Development (AR&D), Child and Adolescent Psychiatry / Psychology, Adult Psychiatry, ANS - Complex Trait Genetics, and ANS - Mood, Anxiety, Psychosis, Stress & Sleep
Subjects: 0301 basic medicine, Male, Bipolar Disorder, Schizophrenia/genetics, LD SCORE REGRESSION, Genome-wide association study, 0302 clinical medicine, Receptors, SCHIZOPHRENIA, Psychotic Disorders/genetics, KYNURENINE PATHWAY METABOLISM, Genetics, RISK, Sex Characteristics, Vascular Endothelial Growth Factor, Bipolar Disorder/genetics, Major/genetics, Single Nucleotide, AFFECTIVE STIMULI IMPACT, Schizophrenia, Sulfurtransferases, Major depressive disorder, Female, Depressive Disorder, Major/genetics, Bipolar disorder, Locus (genetics), Genomics, Biology, Polymorphism, Single Nucleotide, Article, DYSPHORIC MOOD, 03 medical and health sciences, Sex differences, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Polymorphism, GENOME-WIDE ASSOCIATION, Genotype-by-sex interaction, Biological Psychiatry, Depressive Disorder, Major, Depressive Disorder, GENDER-DIFFERENCES, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], PARAVENTRICULAR NUCLEUS, 3112 Neurosciences, Endothelial Cells, MAJOR DEPRESSION, medicine.disease, Genetic architecture, 030104 developmental biology, Mood, Receptors, Vascular Endothelial Growth Factor, Psychotic Disorders, 3111 Biomedicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Contains fulltext : 248656.pdf (Publisher’s version ) (Closed access) BACKGROUND: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. METHODS: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. RESULTS: Across disorders, genome-wide significant single nucleotide polymorphism-by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10(-8)), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10(-6)) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10(-7); rs73033497, p = 8.8 × 10(-7); rs7914279, p = 6.4 × 10(-7)), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10(-7)) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10(-7)), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10(-7)) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). CONCLUSIONS: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels.
Published: 2022

27. Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

Author: Andreas J. Forstner, Martin Alda, Manolis Kogevinas, Pak C. Sham, Patrick F. Sullivan, Michele T. Pato, John R. Kelsoe, Paul A. Tooney, Steven P. Hamilton, Dorret I. Boomsma, Gerome Breen, Tracy Air, Hannelore Ehrenreich, Nakao Iwata, Jill M. Goldstein, Olav B. Smeland, Daniel R. Weinberger, Andrew McQuillin, Stuart A. Tobet, Elvira Bramon, Gabriëlla A.M. Blokland, Jing Qin Wu, Erik G. Jönsson, Peter R. Schofield, Fabian Streit, Nicholas Bass, Aarno Palotie, Brian Kelly, Cathryn M. Lewis, Srdjan Djurovic, Thomas Damm Als, Chia-Yen Chen, Bettina Konte, Joanna Hauser, Claire O'Donovan, Laura J. Scott, Hans J. Grabe, Murray J. Cairns, Rudolf Uher, Pablo Cervantes, Nicholas G. Martin, James A. Knowles, Aiden Corvin, Espen Molden, Lili Milani, Andreas Reif, Maria Grigoroiu-Serbanescu, George Kirov, Yuri Milaneschi, David St Clair, Eco J. C. de Geus, Robert Handa, Tõnu Esko, Alexander Teumer, Anders D. Børglum, Divya Mehta, Roel A. Ophoff, Susanne Lucae, Henning Tiemeier, Marion Leboyer, Ina Giegling, Alan R. Sanders, Jouke-Jan Hottenga, Pablo V. Gejman, Bernhard T. Baune, Brenda W.J.H. Penninx, Chris Cotsapas, Martin Preisig, Thomas Werge, Jakob Grove, Ingrid Melle, Jordan W. Smoller, Marcella Rietschel, Myrna M. Weissman, Preben Bo Mortensen, Philip B. Mitchell, Jolanta Lissowska, Andrew M. McIntosh, Annette M. Hartmann, Ole A. Andreassen, Lea Sirignano, John B. Vincent, Niamh Mullins, Jimmy Lee, Gonneke Willemsen, Marian L. Hamshere, Rolf Adolfsson, Mark A. Frye, Markus M. Nöthen, Jianxin Shi, Ashley L. Comes, Robin M. Murray, Patrik K. E. Magnusson, Frank Bellivier, Stéphane Jamain, Ole Mors, Sven Cichon, Uwe Völker, Fermín Mayoral, Bryan J. Mowry, Bruno Etain, James B. Potash, Beata Świątkowska, Bertram Müller-Myhsok, Mikael Landén, Tracey L. Petryshen, Franziska Degenhardt, Mark Adams, Dan Rujescu, Jose Guzman-Parra, Thomas G. Schulze, Merete Nordentoft, Joseph D. Buxbaum, Janice M. Fullerton, Brien P. Riley, Roy H. Perlis, Arne E. Vaaler, David M. Hougaard, Eli A. Stahl, Susan L. McElroy, Sabrina K. Schaupp, Martin Begemann, Sandra Van der Auwera, Todd Lencz, Joanna M. Biernacka, Agnes A. Steixner-Kumar, Douglas F. Levinson, Sathish Periyasamy, Alexander Viktorin, and Anil K. Malhotra
Subjects: Genetics, 0303 health sciences, Medizin, Locus (genetics), Genomics, Biology, medicine.disease, Genetic architecture, 03 medical and health sciences, 0302 clinical medicine, Mood, medicine, Major depressive disorder, Bipolar disorder, Gene, NKAIN2 Gene, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract: BACKGROUNDSex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk.METHODSWe conducted the largest to date genome-wide genotype–by–sex (GxS) interaction of risk for these disorders, using 85,735 cases (33,403 SCZ, 19,924 BIP, 32,408 MDD) and 109,946 controls from the Psychiatric Genomics Consortium (PGC) and iPSYCH.RESULTSAcross disorders, genome-wide significant SNP-by-sex interaction was detected for a locus encompassingNKAIN2(rs117780815;p=3.2×10−8), that interacts with sodium/potassium-transporting ATPase enzymes implicating neuronal excitability. Three additional loci showed evidence (p−6) for cross-disorder GxS interaction (rs7302529,p=1.6×10−7; rs73033497,p=8.8×10−7; rs7914279,p=6.4×10−7) implicating various functions. Gene-based analyses identified GxS interaction across disorders (p=8.97×10−7) with transcriptional inhibitorSLTM. Most significant in SCZ was aMOCOSgene locus (rs11665282;p=1.5×10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509;p=1.1×10−7) in a locus containingIDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant GxS of genes regulating vascular endothelial growth factor (VEGF) receptor signaling in MDD (pFDRCONCLUSIONSIn the largest genome-wide GxS analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development, immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway enrichment levels.
Published: 2022

28. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Author: Niamh Mullins, JooEun Kang, Adrian I. Campos, Jonathan R.I. Coleman, Alexis C. Edwards, Hanga Galfalvy, Daniel F. Levey, Adriana Lori, Andrey Shabalin, Anna Starnawska, Mei-Hsin Su, Hunna J. Watson, Mark Adams, Swapnil Awasthi, Michael Gandal, Jonathan D. Hafferty, Akitoyo Hishimoto, Minsoo Kim, Satoshi Okazaki, Ikuo Otsuka, Stephan Ripke, Erin B. Ware, Andrew W. Bergen, Wade H. Berrettini, Martin Bohus, Harry Brandt, Xiao Chang, Wei J. Chen, Hsi-Chung Chen, Steven Crawford, Scott Crow, Emily DiBlasi, Philibert Duriez, Fernando Fernández-Aranda, Manfred M. Fichter, Steven Gallinger, Stephen J. Glatt, Philip Gorwood, Yiran Guo, Hakon Hakonarson, Katherine A. Halmi, Hai-Gwo Hwu, Sonia Jain, Stéphane Jamain, Susana Jiménez-Murcia, Craig Johnson, Allan S. Kaplan, Walter H. Kaye, Pamela K. Keel, James L. Kennedy, Kelly L. Klump, Dong Li, Shih-Cheng Liao, Klaus Lieb, Lisa Lilenfeld, Chih-Min Liu, Pierre J. Magistretti, Christian R. Marshall, James E. Mitchell, Eric T. Monson, Richard M. Myers, Dalila Pinto, Abigail Powers, Nicolas Ramoz, Stefan Roepke, Vsevolod Rozanov, Stephen W. Scherer, Christian Schmahl, Marcus Sokolowski, Michael Strober, Laura M. Thornton, Janet Treasure, Ming T. Tsuang, Stephanie H. Witt, D. Blake Woodside, Zeynep Yilmaz, Lea Zillich, Rolf Adolfsson, Ingrid Agartz, Tracy M. Air, Martin Alda, Lars Alfredsson, Ole A. Andreassen, Adebayo Anjorin, Vivek Appadurai, María Soler Artigas, Sandra Van der Auwera, M. Helena Azevedo, Nicholas Bass, Claiton H.D. Bau, Bernhard T. Baune, Frank Bellivier, Klaus Berger, Joanna M. Biernacka, Tim B. Bigdeli, Elisabeth B. Binder, Michael Boehnke, Marco P. Boks, Rosa Bosch, David L. Braff, Richard Bryant, Monika Budde, Enda M. Byrne, Wiepke Cahn, Miguel Casas, Enrique Castelao, Jorge A. Cervilla, Boris Chaumette, Sven Cichon, Aiden Corvin, Nicholas Craddock, David Craig, Franziska Degenhardt, Srdjan Djurovic, Howard J. Edenberg, Ayman H. Fanous, Jerome C. Foo, Andreas J. Forstner, Mark Frye, Janice M. Fullerton, Justine M. Gatt, Pablo V. Gejman, Ina Giegling, Hans J. Grabe, Melissa J. Green, Eugenio H. Grevet, Maria Grigoroiu-Serbanescu, Blanca Gutierrez, Jose Guzman-Parra, Steven P. Hamilton, Marian L. Hamshere, Annette Hartmann, Joanna Hauser, Stefanie Heilmann-Heimbach, Per Hoffmann, Marcus Ising, Ian Jones, Lisa A. Jones, Lina Jonsson, René S. Kahn, John R. Kelsoe, Kenneth S. Kendler, Stefan Kloiber, Karestan C. Koenen, Manolis Kogevinas, Bettina Konte, Marie-Odile Krebs, Mikael Landén, Jacob Lawrence, Marion Leboyer, Phil H. Lee, Douglas F. Levinson, Calwing Liao, Jolanta Lissowska, Susanne Lucae, Fermin Mayoral, Susan L. McElroy, Patrick McGrath, Peter McGuffin, Andrew McQuillin, Sarah E. Medland, Divya Mehta, Ingrid Melle, Yuri Milaneschi, Philip B. Mitchell, Esther Molina, Gunnar Morken, Preben Bo Mortensen, Bertram Müller-Myhsok, Caroline Nievergelt, Vishwajit Nimgaonkar, Markus M. Nöthen, Michael C. O’Donovan, Roel A. Ophoff, Michael J. Owen, Carlos Pato, Michele T. Pato, Brenda W.J.H. Penninx, Jonathan Pimm, Giorgio Pistis, James B. Potash, Robert A. Power, Martin Preisig, Digby Quested, Josep Antoni Ramos-Quiroga, Andreas Reif, Marta Ribasés, Vanesa Richarte, Marcella Rietschel, Margarita Rivera, Andrea Roberts, Gloria Roberts, Guy A. Rouleau, Diego L. Rovaris, Dan Rujescu, Cristina Sánchez-Mora, Alan R. Sanders, Peter R. Schofield, Thomas G. Schulze, Laura J. Scott, Alessandro Serretti, Jianxin Shi, Stanley I. Shyn, Lea Sirignano, Pamela Sklar, Olav B. Smeland, Jordan W. Smoller, Edmund J.S. Sonuga-Barke, Gianfranco Spalletta, John S. Strauss, Beata Świątkowska, Maciej Trzaskowski, Gustavo Turecki, Laura Vilar-Ribó, John B. Vincent, Henry Völzke, James T.R. Walters, Cynthia Shannon Weickert, Thomas W. Weickert, Myrna M. Weissman, Leanne M. Williams, Naomi R. Wray, Clement C. Zai, Allison E. Ashley-Koch, Jean C. Beckham, Elizabeth R. Hauser, Michael A. Hauser, Nathan A. Kimbrel, Jennifer H. Lindquist, Benjamin McMahon, David W. Oslin, Xuejun Qin, Esben Agerbo, Anders D. Børglum, Gerome Breen, Annette Erlangsen, Tõnu Esko, Joel Gelernter, David M. Hougaard, Ronald C. Kessler, Henry R. Kranzler, Qingqin S. Li, Nicholas G. Martin, Andrew M. McIntosh, Ole Mors, Merete Nordentoft, Catherine M. Olsen, David Porteous, Robert J. Ursano, Danuta Wasserman, Thomas Werge, David C. Whiteman, Cynthia M. Bulik, Hilary Coon, Ditte Demontis, Anna R. Docherty, Po-Hsiu Kuo, Cathryn M. Lewis, J. John Mann, Miguel E. Rentería, Daniel J. Smith, Eli A. Stahl, Murray B. Stein, Fabian Streit, Virginia Willour, Douglas M. Ruderfer, Manuel Mattheisen, Abdel Abdellaoui, Mark J. Adams, Till F.M. Andlauer, Silviu-Alin Bacanu, Marie Bækvad-Hansen, Aartjan T.F. Beekman, Julien Bryois, Henriette N. Buttenschøn, Jonas Bybjerg-Grauholm, Na Cai, Jane Hvarregaard Christensen, Toni-Kim Clarke, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Nick Craddock, Gregory E. Crawford, Gail Davies, Eske M. Derks, Nese Direk, Conor V. Dolan, Erin C. Dunn, Thalia C. Eley, Valentina Escott-Price, Farnush Farhadi Hassan Kiadeh, Hilary K. Finucane, Josef Frank, Héléna A. Gaspar, Michael Gill, Fernando S. Goes, Scott D. Gordon, Shantel Marie Weinsheimer, Jürgen Wellmann, Gonneke Willemsen, Yang Wu, Hualin S. Xi, Jian Yang, Futao Zhang, Volker Arolt, Dorret I. Boomsma, Udo Dannlowski, E.J.C. de Geus, J. Raymond Depaulo, Enrico Domenici, Katharina Domschke, Jakob Grove, Lynsey S. Hall, Christine Søholm Hansen, Thomas F. Hansen, Stefan Herms, Ian B. Hickie, Georg Homuth, Carsten Horn, Jouke-Jan Hottenga, David M. Howard, Rick Jansen, Eric Jorgenson, James A. Knowles, Isaac S. Kohane, Julia Kraft, Warren W. Kretzschmar, Zoltán Kutalik, Yihan Li, Penelope A. Lind, Donald J. MacIntyre, Dean F. MacKinnon, Robert M. Maier, Wolfgang Maier, Jonathan Marchini, Hamdi Mbarek, Christel M. Middeldorp, Evelin Mihailov, Lili Milani, Francis M. Mondimore, Grant W. Montgomery, Sara Mostafavi, Matthias Nauck, Bernard Ng, Michel G. Nivard, Dale R. Nyholt, Paul F. O’Reilly, Hogni Oskarsson, Caroline Hayward, Andrew C. Heath, Glyn Lewis, Pamela A.F. Madden, Patrik K. Magnusson, Andres Metspalu, Sara A. Paciga, Nancy L. Pedersen, Jodie N. Painter, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Roseann E. Peterson, Wouter J. Peyrot, Danielle Posthuma, Jorge A. Quiroz, Per Qvist, John P. Rice, Brien P. Riley, Saira Saeed Mirza, Robert Schoevers, Eva C. Schulte, Ling Shen, Engilbert Sigurdsson, Grant C.B. Sinnamon, Johannes H. Smit, Hreinn Stefansson, Stacy Steinberg, Jana Strohmaier, Katherine E. Tansey, Henning Teismann, Alexander Teumer, Wesley Thompson, Pippa A. Thomson, Thorgeir E. Thorgeirsson, Matthew Traylor, Jens Treutlein, Vassily Trubetskoy, André G. Uitterlinden, Daniel Umbricht, Albert M. van Hemert, Alexander Viktorin, Peter M. Visscher, Yunpeng Wang, Bradley T. Webb, Roy H. Perlis, David J. Porteous, Catherine Schaefer, Kari Stefansson, Henning Tiemeier, Rudolf Uher, Patrick F. Sullivan, Kevin S. O’Connell, Brandon Coombes, Zhen Qiao, Thomas D. Als, Sigrid Børte, Alexander W. Charney, Ole Kristian Drange, Michael J. Gandal, Saskia P. Hagenaars, Masashi Ikeda, Nolan Kamitaki, Kristi Krebs, Georgia Panagiotaropoulou, Brian M. Schilder, Laura G. Sloofman, Bendik S. Winsvold, Hong-Hee Won, Liliya Abramova, Kristina Adorjan, Mariam Al Eissa, Diego Albani, Ney Alliey-Rodriguez, Verneri Antilla, Anastasia Antoniou, Ji Hyun Baek, Michael Bauer, Eva C. Beins, Sarah E. Bergen, Armin Birner, Erlend Bøen, Murielle Brum, Ben M. Brumpton, Nathalie Brunkhorst-Kanaan, William Byerley, Murray Cairns, Miquel Casas, Pablo Cervantes, Cristiana Cruceanu, Alfredo Cuellar-Barboza, Julie Cunningham, David Curtis, Piotr M. Czerski, Anders M. Dale, Nina Dalkner, Friederike S. David, Amanda L. Dobbyn, Athanassios Douzenis, Torbjørn Elvsåshagen, I. Nicol Ferrier, Alessia Fiorentino, Tatiana M. Foroud, Liz Forty, Oleksandr Frei, Nelson B. Freimer, Louise Frisén, Katrin Gade, Julie Garnham, Ian R. Gizer, Katherine Gordon-Smith, Tiffany A. Greenwood, José Guzman-Parra, Kyooseob Ha, Magnus Haraldsson, Martin Hautzinger, Urs Heilbronner, Dennis Hellgren, Peter A. Holmans, Laura Huckins, Jessica S. Johnson, Janos L. Kalman, Yoichiro Kamatani, Sarah Kittel-Schneider, Maria Koromina, Thorsten M. Kranz, Michiaki Kubo, Ralph Kupka, Steven A. Kushner, Catharina Lavebratt, Markus Leber, Heon-Jeong Lee, Shawn E. Levy, Catrin Lewis, Martin Lundberg, Sigurdur H. Magnusson, Adam Maihofer, Dolores Malaspina, Eirini Maratou, Lina Martinsson, Nathaniel W. McGregor, James D. McKay, Helena Medeiros, Vincent Millischer, Jennifer L. Moran, Derek W. Morris, Thomas W. Mühleisen, Niamh O’Brien, Claire O’Donovan, Loes M. Olde Loohuis, Lilijana Oruc, Sergi Papiol, Antonio F. Pardiñas, Amy Perry, Andrea Pfennig, Evgenia Porichi, Towfique Raj, Mark H. Rapaport, J. Raymond DePaulo, Eline J. Regeer, Fabio Rivas, Julian Roth, Panos Roussos, Fanny Senner, Sally Sharp, Paul D. Shilling, Claire Slaney, Janet L. Sobell, Maria Soler Artigas, Anne T. Spijker, Dan J. Stein, Chikashi Terao, Claudio Toma, Paul Tooney, Evangelia-Eirini Tsermpini, Marquis P. Vawter, Helmut Vedder, Simon Xi, Wei Xu, Jessica Mei Kay Yang, Allan H. Young, Hannah Young, Peter P. Zandi, Hang Zhou, null HUNT All-In Psychiatry, Gulja Babadjanova, Lena Backlund, Susanne Bengesser, Douglas H.R. Blackwood, Vaughan J. Carr, Stanley Catts, Dimitris Dikeos, Bruno Etain, Panagiotis Ferentinos, Micha Gawlik, Elliot S. Gershon, Frans Henskens, Jan Hillert, Kyung Sue Hong, Christina M. Hultman, Kristian Hveem, Nakao Iwata, Assen V. Jablensky, George Kirov, Christine Lochner, Carmel Loughland, Carol A. Mathews, Francis J. McMahon, Patricia Michie, Bryan Mowry, Benjamin M. Neale, Caroline M. Nievergelt, Ketil J. Oedegaard, Tomas Olsson, Chris Pantelis, George P. Patrinos, Eva Z. 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J., Wasserman, D., Coon, H., Demontis, D., Docherty, A. R., Kuo, P. -H., Mann, J. J., Renteria, M. E., Stein, M. B., Willour, V., Psychiatry, Biological Psychology, APH - Methodology, APH - Mental Health, APH - Health Behaviors & Chronic Diseases, AMS - Sports, AMS - Ageing & Vitality, APH - Personalized Medicine, Amsterdam Neuroscience - Complex Trait Genetics, Complex Trait Genetics, Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, HUS Psychiatry, Department of Public Health, Clinicum, Nuorisopsykiatria, Faculty Common Matters (Faculty of Social Sciences), Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Anna Keski-Rahkonen / Principal Investigator, Elisabeth Ingrid Maria Widen / Principal Investigator, Genomic Discoveries and Clinical Translation, Internal medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Digital Health, Mullins N., Kang J., Campos A.I., Coleman J.R.I., Edwards 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Nyholt D.R., O'Reilly P.F., Oskarsson H., Hayward C., Heath A.C., Lewis G., Li Q.S., Madden P.A.F., Magnusson P.K., Martin N.G., McIntosh A.M., Metspalu A., Mors O., Nordentoft M., Paciga S.A., Pedersen N.L., Painter J.N., Pedersen C.B., Pedersen M.G., Peterson R.E., Peyrot W.J., Posthuma D., Quiroz J.A., Qvist P., Rice J.P., Riley B.P., Mirza S.S., Schoevers R., Schulte E.C., Shen L., Sigurdsson E., Sinnamon G.C.B., Smit J.H., Smith D.J., Stefansson H., Steinberg S., Streit F., Strohmaier J., Tansey K.E., Teismann H., Teumer A., Thompson W., Thomson P.A., Thorgeirsson T.E., Traylor M., Treutlein J., Trubetskoy V., Uitterlinden A.G., Umbricht D., der Auwera S.V., van Hemert A.M., Viktorin A., Visscher P.M., Wang Y., Webb B.T., Perlis R.H., Porteous D.J., Schaefer C., Stefansson K., Tiemeier H., Uher R., Werge T., Lewis C.M., Breen G., Borglum A.D., Sullivan P.F., O'Connell K.S., Coombes B., Qiao Z., Als T.D., Borte S., Charney A.W., Drange O.K., Gandal M.J., Hagenaars S.P., Ikeda M., Kamitaki N., Krebs K., Panagiotaropoulou G., Schilder B.M., Sloofman L.G., Winsvold B.S., Won H.-H., Abramova L., Adorjan K., Al Eissa M., Albani D., Alliey-Rodriguez N., Antilla V., Antoniou A., Baek J.H., Bauer M., Beins E.C., Bergen S.E., Birner A., Boen E., Brum M., Brumpton B.M., Brunkhorst-Kanaan N., Byerley W., Cairns M., Cervantes P., Cruceanu C., Cuellar-Barboza A., Cunningham J., Curtis D., Czerski P.M., Dale A.M., Dalkner N., David F.S., Dobbyn A.L., Douzenis A., Elvsashagen T., Ferrier I.N., Fiorentino A., Foroud T.M., Forty L., Frei O., Freimer N.B., Frisen L., Gade K., Garnham J., Gelernter J., Gizer I.R., Gordon-Smith K., Greenwood T.A., Ha K., Haraldsson M., Hautzinger M., Heilbronner U., Hellgren D., Holmans P.A., Huckins L., Johnson J.S., Kalman J.L., Kamatani Y., Kittel-Schneider S., Koromina M., Kranz T.M., Kranzler H.R., Kubo M., Kupka R., Kushner S.A., Lavebratt C., Leber M., Lee H.-J., Levy S.E., Lewis C., Lundberg M., Magnusson S.H., Maihofer A., Malaspina D., Maratou E., Martinsson L., McGregor N.W., McKay J.D., Medeiros H., Millischer V., Moran J.L., Morris D.W., Muhleisen T.W., O'Brien N., O'Donovan C., Olde Loohuis L.M., Oruc L., Papiol S., Pardinas A.F., Perry A., Pfennig A., Porichi E., Raj T., Rapaport M.H., Regeer E.J., Rivas F., Roth J., Roussos P., Ruderfer D.M., Senner F., Sharp S., Shilling P.D., Slaney C., Sobell J.L., Artigas M.S., Spijker A.T., Stein D.J., Terao C., Toma C., Tooney P., Tsermpini E.-E., Vawter M.P., Vedder H., Xi S., Xu W., Kay Yang J.M., Young A.H., Young H., Zandi P.P., Zhou H., HUNT All-In Psychiatry, Babadjanova G., Backlund L., Bengesser S., Blackwood D.H.R., Carr V.J., Catts S., Dikeos D., Etain B., Ferentinos P., Gawlik M., Gershon E.S., Henskens F., Hillert J., Hong K.S., Hultman C.M., Hveem K., Iwata N., Jablensky A.V., Kirov G., Lochner C., Loughland C., Mathews C.A., McMahon F.J., Michie P., Mowry B., Neale B.M., Nievergelt C.M., Oedegaard K.J., Olsson T., Pantelis C., Patrinos G.P., Reininghaus E.Z., Saito T., Schall U., Schalling M., Scott R.J., Weickert C.S., Stordal E., Vaaler A.E., Vieta E., Waldman I.D., Zwart J.-A., Nurnberger J.I., Stahl E.A., Di Florio A., Adan R.A.H., Ando T., Aschauer H., Baker J.H., Bencko V., Birgegard A., Boden J.M., Boehm I., Boni C., Perica V.B., Buehren K., Bulik C.M., Burghardt R., Carlberg L., Cassina M., Clementi M., Cone R.D., Courtet P., Crowley J.J., Danner U.N., Davis O.S.P., de Zwaan M., Dedoussis G., Degortes D., DeSocio J.E., Dick D.M., Dina C., Dmitrzak-Weglarz M., Martinez E.D., Duncan L.E., Egberts K., Mattingsdal M., McDevitt S., Meulenbelt I., Micali N., Mitchell J., Mitchell K., Monteleone P., Monteleone A.M., Munn-Chernoff M.A., Nacmias B., Navratilova M., Ntalla I., Olsen C.M., O'Toole J.K., Padyukov L., Palotie A., Pantel J., Papezova H., Parker R., Pearson J.F., Ehrlich S., Escaramis G., Espeseth T., Estivill X., Farmer A., Favaro A., Fischer K., Floyd J.A.B., Focker M., Foretova L., Forzan M., Franklin C.S., Gambaro G., Giuranna J., Giusti-Rodriquez P., Gonidakis F., Gordon S., Mayora M.G., Guillaume S., Hanscombe K.B., Hatzikotoulas K., Hebebrand J., Helder S.G., Henders A.K., Herpertz-Dahlmann B., Herzog W., Hinney A., Horwood L.J., Hubel C., Petersen L.V., Purves K.L., Raevuori A., Reichborn-Kjennerud T., Ricca V., Ripatti S., Ritschel F., Roberts M., Rybakowski F., Santonastaso P., Scherag A., Schmidt U., Schork N.J., Schosser A., Seitz J., Slachtova L., Slagboom P.E., Slof-Op 't Landt M.C.T., Slopien A., Soranzo N., Sorbi S., Southam L., Steen V.W., Huckins L.M., Hudson J.I., Imgart H., Inoko H., Janout V., Jordan J., Julia A., Kalsi G., Kaminska D., Kaprio J., Karhunen L., Karwautz A., Kas M.J.H., Kennedy M.A., Keski-Rahkonen A., Kiezebrink K., Kim Y.-R., Kirk K.M., Klareskog L., Knudsen G.P.S., Larsen J.T., Le Hellard S., Leppa V.M., Lichtenstein P., Lin B.D., Lundervold A., Luykx J., Maj M., Mannik K., Marsal S., Stuber G.D., Szatkiewicz J.P., Tachmazidou I., Tenconi E., Tortorella A., Tozzi F., Tsitsika A., Tyszkiewicz-Nwafor M., Tziouvas K., van Elburg A.A., van Furth E.F., Wade T.D., Wagner G., Walton E., Whiteman D.C., Wichmann H.E., Widen E., Yao S., Zeggini E., Zerwas S., Zipfel S., Jungkunz M., Dietl L., Schwarze C.E., Dahmen N., Schott B.H., Mobascher A., Crivelli S., Dennis M.F., Harvey P.D., Carter B.W., Huffman J.E., Jacobson D., Madduri R., Olsen M.K., Pestian J., Gaziano J.M., Muralidhar S., Ramoni R., Beckham J., Chang K.-M., O'Donnell C.J., Tsao P.S., Breeling J., Huang G., Romero J.P.C., Moser J., Whitbourne S.B., Brewer J.V., Aslan M., Connor T., Argyres D.P., Stephens B., Brophy M.T., Humphries D.E., Selva L.E., Do N., Shayan S., Cho K., Pyarajan S., Hauser E., Sun Y., Zhao H., Wilson P., McArdle R., Dellitalia L., Mattocks K., Harley J., Zablocki C.J., Whittle J., Jacono F., Gutierrez S., Gibson G., Hammer K., Kaminsky L., Villareal G., Kinlay S., Xu J., Hamner M., Mathew R., Bhushan S., Iruvanti P., Godschalk M., Ballas Z., Ivins D., Mastorides S., Moorman J., Gappy S., Klein J., Ratcliffe N., Florez H., Okusaga O., Murdoch M., Sriram P., Yeh S.S., Tandon N., Jhala D., Aguayo S., Cohen D., Sharma S., Liangpunsakul S., Oursler K.A., Whooley M., Ahuja S., Constans J., Meyer P., Greco J., Rauchman M., Servatius R., Gaddy M., Wallbom A., Morgan T., Stapley T., Sherman S., Ross G., Tsao P., Strollo P., Boyko E., Meyer L., Gupta S., Huq M., Fayad J., Hung A., Lichy J., Hurley R., Robey B., Striker R., Erlangsen A., Kessler R.C., Porteous D., Ursano R.J., Wasserman D., Coon H., Demontis D., Docherty A.R., Kuo P.-H., Mann J.J., Renteria M.E., Stein M.B., and Willour V.
Subjects: LD SCORE REGRESSION, Genome-wide association study, Suicide, Attempted, 3124 Neurology and psychiatry, 0302 clinical medicine, Risk Factors, Insomnia, Suicide attempt, GWAS, Suïcidi, Depression (differential diagnoses), Cause of death, Psychiatry, 0303 health sciences, Factors de risc en les malalties, Mental Disorders, Genetic Correlation, Genome-wide Association Study, Pleiotropy, Polygenicity, Suicide, Suicide Attempt, DEPRESSION, 3. Good health, Genetic correlation, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Depressive Disorder, Major, Mental illness, Cohort, SEX, medicine.symptom, Human, medicine.medical_specialty, Risk factors in diseases, BF, Locus (genetics), BEHAVIORS, Psykiatri, EVENTS, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, ddc:610, GENOME-WIDE ASSOCIATION, IDEATION, Socioeconomic status, METAANALYSIS, Biological Psychiatry, 030304 developmental biology, business.industry, Risk Factor, Genetic architecture, THOUGHTS, RC0321, business, Malalties mentals, 030217 neurology & neurosurgery
Abstract: Statistical analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org) hosted by SURFsara and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu), which is supported by the Office of Research Infrastructure of the National Institutes of Health (Grant Nos. S10OD018522 and S10OD026880). This work was conducted in part using the resources of the Advanced Computing Center for Research and Education at Vanderbilt University, Nashville, TN. This work was funded by the National Institutes of Health (Grant Nos. R01MH116269 and R01MH121455 [to DMR]), NIGMS of the National Institutes of Health (Grant No. T32GM007347 [to JK]), and the Brain & Behavior Research Foundation (NARSAD Young Investigator Award No. 29551 [to NM])., BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders., Office of Research Infrastructure of the National Institutes of Health S10OD018522 S10OD026880, United States Department of Health & Human Services, National Institutes of Health (NIH) - USA R01MH116269 R01MH121455, NIH National Institute of General Medical Sciences (NIGMS) T32GM007347 NARSAD 29551
Published: 2022

29. Accounting for EGFR Mutations in Epidemiologic Analyses of Non-Small Cell Lung Cancers: Examples Based on the International Lung Cancer Consortium Data

Author: Sabine Schmid, Mei Jiang, M. Catherine Brown, Aline Fares, Miguel Garcia, Joelle Soriano, Mei Dong, Sera Thomas, Takashi Kohno, Leticia Ferro Leal, Nancy Diao, Juntao Xie, Zhichao Wang, David Zaridze, Ivana Holcatova, Jolanta Lissowska, Beata Świątkowska, Dana Mates, Milan Savic, Angela S. Wenzlaff, Curtis C. Harris, Neil E. Caporaso, Hongxia Ma, Guillermo Fernandez-Tardon, Matthew J. Barnett, Gary Goodman, Michael P.A. Davies, Mónica Pérez-Ríos, Fiona Taylor, Eric J. Duell, Ben Schoettker, Hermann Brenner, Angeline Andrew, Angela Cox, Alberto Ruano-Ravina, John K. Field, Loic Le Marchand, Ying Wang, Chu Chen, Adonina Tardon, Sanjay Shete, Matthew B. Schabath, Hongbing Shen, Maria Teresa Landi, Brid M. Ryan, Ann G. Schwartz, Lihong Qi, Lori C. Sakoda, Paul Brennan, Ping Yang, Jie Zhang, David C. Christiani, Rui Manuel Reis, Kouya Shiraishi, Rayjean J. Hung, Wei Xu, and Geoffrey Liu
Subjects: Lung Neoplasms, Epidemiology, Prevention, Carcinoma, Lung Cancer, Medical and Health Sciences, Survival Analysis, Article, ErbB Receptors, Oncology, Carcinoma, Non-Small-Cell Lung, Mutation, Humans, Non-Small-Cell Lung, Lung, Cancer
Abstract: Background: Somatic EGFR mutations define a subset of non–small cell lung cancers (NSCLC) that have clinical impact on NSCLC risk and outcome. However, EGFR-mutation-status is often missing in epidemiologic datasets. We developed and tested pragmatic approaches to account for EGFR-mutation-status based on variables commonly included in epidemiologic datasets and evaluated the clinical utility of these approaches. Methods: Through analysis of the International Lung Cancer Consortium (ILCCO) epidemiologic datasets, we developed a regression model for EGFR-status; we then applied a clinical-restriction approach using the optimal cut-point, and a second epidemiologic, multiple imputation approach to ILCCO survival analyses that did and did not account for EGFR-status. Results: Of 35,356 ILCCO patients with NSCLC, EGFR-mutation-status was available in 4,231 patients. A model regressing known EGFR-mutation-status on clinical and demographic variables achieved a concordance index of 0.75 (95% CI, 0.74–0.77) in the training and 0.77 (95% CI, 0.74–0.79) in the testing dataset. At an optimal cut-point of probability-score = 0.335, sensitivity = 69% and specificity = 72.5% for determining EGFR-wildtype status. In both restriction-based and imputation-based regression analyses of the individual roles of BMI on overall survival of patients with NSCLC, similar results were observed between overall and EGFR-mutation-negative cohort analyses of patients of all ancestries. However, our approach identified some differences: EGFR-mutated Asian patients did not incur a survival benefit from being obese, as observed in EGFR-wildtype Asian patients. Conclusions: We introduce a pragmatic method to evaluate the potential impact of EGFR-status on epidemiological analyses of NSCLC. Impact: The proposed method is generalizable in the common occurrence in which EGFR-status data are missing.
Published: 2021

30. Determinants of E-Cigarette and Cigarette Use among Youth and Young Adults in Poland—PolNicoYouth Study

Author: Ilona Wężyk-Caba, Małgorzata Znyk, Radosław Zajdel, Łukasz Balwicki, Anna Tyrańska-Fobke, Grzegorz Juszczyk, Karolina Zajdel, Beata Świątkowska, and Dorota Kaleta
Subjects: Young Adult, Adolescent, Vaping, Health, Toxicology and Mutagenesis, Smoking, Public Health, Environmental and Occupational Health, Humans, Female, Poland, Tobacco Products, young adults, e-cigarette use, predictors of smoking, Electronic Nicotine Delivery Systems
Abstract: Teen use of tobacco-related products is a significant public health concern. This study evaluated the predictors of e-cigarette use among secondary school students who were never cigarette smokers and ever cigarette smokers in Poland. Methods: This study examined a sample of Polish youths aged 13–19 (n = 19,241) attending 200 schools, 12 on average in each county. The study was a part of the National Health Program in Poland for 2016–2020. Logistic regression and multivariable logistic regression models were used to calculate crude and adjusted odds ratios. Results: Of all participants, 32.5% were ever cigarette users. Among the never cigarette users, 13.6% were deemed susceptible to e-cigarette use. Among the ever cigarette users, 60.6% were deemed susceptible to e-cigarette use. Of those susceptible to e-cigarette use, 68.2% were among the 32.5% ever cigarette users. The profile of e-cigarette use among never e-cigarette users also included: pocket money available per month (more than 150 PLN) (OR = 1.7; p = 0.001), 16–17 years old (OR = 1.9; p = 0.001), parental tobacco smoking and e-cigarette usage (OR = 2.0; p = 0.01 and OR = 1.7; p = 0.001 respectively), maternal secondary education (OR = 1.1; p = 0.04), and living in big cities >500,000 inhabitants (OR = 1.4; p = 0.04). E-cigarette users among ever cigarette users were similar to never cigarette users in their opinion that e-cigarette use is less harmful than traditional smoking (OR = 1.6; p = 0.0012) and living with both parents smoking cigarettes (OR = 1.3; p = 0.02). Additionally, the determinants were: female gender (OR = 1.5; p = 0.009) in the age group less than 15 years of age (OR = 1.3; p = 0.007). Conclusions: The major determinant of e-cigarette use in this population was prior smoking. Additionally, the results revealed that fairly obvious predictors such as parental smoking and a belief in the less harmfulness of e-cigarette use are important determinants for smoking among never or ever e-cigarette users.
Published: 2022

31. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: Mullins, Niamh, Forstner, Andreas J., O'Connell, Kevin S., Coombes, Brandon, Coleman, Jonathan R.I., Qiao, Zhen, Als, Thomas D., Bigdeli, Tim B., Børte, Sigrid, Bryois, Julien, Charney, Alexander W., Drange, Ole Kristian, Gandal, Michael J., Hagenaars, Saskia P., Ikeda, Masashi, Kamitaki, Nolan, Kim, Minsoo, Krebs, Kristi, Panagiotaropoulou, Georgia, Schilder, Brian M., Sloofman, Laura G., Steinberg, Stacy, Trubetskoy, Vassily, Winsvold, Bendik S., Won, Hong-Hee, Abramova, Liliya, Adorjan, Kristina, Agerbo, Esben, Al Eissa, Mariam, Albani, Diego, Alliey-Rodriguez, Ney, Anjorin, Adebayo, Antilla, Verneri, Antoniou, Anastasia, Awasthi, Swapnil, Hyun Baek, Ji, Bækvad-Hansen, Marie, Bass, Nicholas, Bauer, Michael, Beins, Eva C., Bergen, Sarah E., Birner, Armin, Bøcker Pedersen, Carsten, Bøen, Erlend, Boks, Marco P., Bosch, Rosa, Brum, Murielle, Brumpton, Ben M., Brunkhorst-Kanaan, Nathalie, Budde, Monika, Bybjerg-Grauholm, Jonas, Byerley, William, Cairns, Murray, Casas, Miquel, Cervantes, Pablo, Clarke, Toni-Kim, Cruceanu, Cristiana, Cuellar-Barboza, Alfredo, Cunningham, Julie, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, David, Friederike S., Degenhardt, Franziska, Djurovic, Srdjan, Dobbyn, Amanda L., Douzenis, Athanassios, Elvsåshagen, Torbjørn, Escott-Price, Valentina, Nicol Ferrier, I., Fiorentino, Alessia, Foroud, Tatiana M., Forty, Liz, Frank, Josef, Frei, Oleksandr, Freimer, Nelson B., Frisén, Louise, Gade, Katrin, Garnham, Julie, Gelernter, Joel, Marianne Giørtz Pedersen, Marianne, Gizer, Ian R., Gordon, Scott D., Gordon-Smith, Katherine, Greenwood, Tiffany A., Grove, Jakob, Guzman-Parra, José, Ha, Kyooseob, Haraldsson, Magnus, Hautzinger, Martin, Heilbronner, Urs, Hellgren, Dennis, Herms, Stefan, Hoffmann, Per, Holmans, Peter A., Huckins, Laura, Jamain, Stéphane, Johnson, Jessica S., Kalman, Janos L., Kamatani, Yoichiro, Kennedy, James L., Kittel-Schneider, Sarah, Knowles, James A., Kogevinas, Manolis, Koromina, Maria, Kranz, Thorsten M., Kranzler, Henry R., Kubo, Michiaki, Kupka, Ralph, Kushner, Steven A., Lavebratt, Catharina, Lawrence, Jacob, Leber, Markus, Lee, Heon-Jeong, Lee, Phil H., Levy, Shawn E., Lewis, Catrin, Liao, Calwing, Lucae, Susanne, Lundberg, Martin, MacIntyre, Donald J., Maier, Wolfgang, Maihofer, Adam, Malaspina, Dolores, Maratou, Eirini, Martinsson, Lina, Mattheisen, Manuel, McGregor, Nathaniel W., McGuffin, Peter, McKay, James D., Medeiros, Helena, Medland, Sarah E., Millischer, Vincent, Montgomery, Grant W., Moran, Jennifer L., Morris, Derek W., Mühleisen, Thomas W., O'Brien, Niamh, O'Donovan, Claire, Olde Loohuis, Loes M., Oruc, Lilijana, Papiol, Sergi, Pardiñas, Antonio F., Perry, Amy, Pfennig, Andrea, Porichi, Evgenia, Potash, James B., Quested, Digby, Raj, Towfique, Rapaport, Mark H., DePaulo, J Raymond, Regeer, Eline J., Rice, John P., Rivas, Fabio, Rivera, Margarita, Roth, Julian, Roussos, Panos, Ruderfer, Douglas M., Sánchez-Mora, Cristina, Schulte, Eva C., Senner, Fanny, Sharp, Sally, Shilling, Paul D., Sigurdsson, Engilbert, Sirignano, Lea, Slaney, Claire, Smeland, Olav B., Sobell, Janet L., Hansen, Christine Søholm, Artigas, Maria Soler, Spijker, Anne T., Stein, Dan J., Strauss, John S., Beata Świątkowska, Beata, Terao, Chikashi, Thorgeirsson, Thorgeir E., Toma, Claudio, Tooney, Paul, Tsermpini, Evangelia-Eirini, Vawter, Marquis P., Vedder, Helmut, Walters, James T.R., Witt, Stephanie H., Xi, Simon, Xu, Wei, Young, Hannah, Young, Allan H., Zandi, Peter P., Zhou, Hang, Zillich, Lea, Adolfsson, Rolf, Agartz, Ingrid, Alda, Martin, Alfredsson, Lars, Babadjanova, Gulja, Backlund, Lena, Baune, Bernhard T., Bellivier, Frank, Bengesser, Susanne, Berrettini, Wade H., Blackwood, Douglas H.R., Boehnke, Michael, Børglum, Anders D., Breen, Gerome, Carr, Vaughan J., Catts, Stanley, Corvin, Aiden, Craddock, Nicholas, Dannlowski, Udo, Dikeos, Dimitris, Esko, Tõnu, Etain, Bruno, Ferentinos, Panagiotis, Frye, Mark, Fullerton, Janice M., Gawlik, Micha, Gershon, Elliot S., Goes, Fernando, Green, Melissa J., Grigoroiu-Serbanescu, Maria, Hauser, Joanna, Henskens, Frans, Hillert, Jan, Hong, Kyung Sue, Hougaard, David M., Hultman, Christina M., Hveem, Kristian, Iwata, Nakao, Jablensky, Assen V., Jones, Ian, Jones, Lisa A., Kahn, René S., Kelsoe, John R., Kirov, George, Mikael Landén, Mikael, Leboyer, Marion, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Lochner, Christine, Loughland, Carmel, Martin, Nicholas G., Mathews, Carol A., Mayoral, Fermin, McElroy, Susan L., McIntosh, Andrew M., McMahon, Francis J., Melle, Ingrid, Michie, Patricia, Milani, Lili, Mitchell, Philip B., Morken, Gunnar, Mors, Ole, Bo Mortensen, Preben, Mowry, Bryan, Müller-Myhsok, Bertram, Myers, Richard M., Neale, Benjamin M., Nievergelt, Caroline M., Nordentoft, Merete, Nöthen, Markus M., O'Donovan, Michael C., Smith, Daniel, Oedegaard, Ketil J., Olsson, Tomas, Owen, Michael J., Paciga, Sara A., Pantelis, Chris, Pato, Carlos, Pato, Michele T., Patrinos, George P., Perlis, Roy H., Posthuma, Danielle, Ramos-Quiroga, Josep Antoni, Reif, Andreas, Reininghaus, Eva Z., Ribasés, Marta, Rietschel, Marcella, Rouleau, Guy A., Ripke, Stephan, Saito, Takeo, Schall, Ulrich, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Rodney J., Scott, Laura J., Serretti, Alessandro, Weickert, Cynthia Shannon, Smoller, Jordan W., Stefansson, Hreinn, Stefansson, Kari, Stordal, Eystein, Streit, Fabian, Turecki, Gustavo, Sullivan, Patrick F., Vaaler, Arne E, Vieta, Eduard, Vincent, John B., Waldman, Irwin D., Weickert, Thomas W., Werge, Thomas, Wray, Naomi R., Zwart, John-Anker, Biernacka, Joanna M., Nurnberger, John I., Cichon, Sven, Edenberg, Howard J., Stahl, Eli A., McQuillin, Andrew, Di Florio, Arianna, Ophoff, Roel A., and Andreassen, Ole A.
Abstract: Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies.
Published: 2021

32. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: James McKay, Frank Bellivier, Mark A. Frye, Bertram Müller-Myhsok, Fermín Mayoral, I. Nicol Ferrier, Marion Leboyer, Fabian Streit, Dan J. Stein, James L. Kennedy, Christine Søholm Hansen, Scott D. Gordon, Beata Świątkowska, Valentina Escott-Price, Michael Bauer, Lina Martinsson, Donald J. MacIntyre, Oleksandr Frei, Daniel J. Smith, Sara A. Paciga, Takeo Saito, Jennifer L. Moran, Verneri Antilla, C Pantelis, Tomas Olsson, Swapnil Awasthi, Lena Backlund, Eirini Maratou, Martin Schalling, John B. Vincent, Niamh Mullins, Sarah E. Bergen, Niamh L. O'Brien, Marco P. Boks, Carsten Bøcker Pedersen, Mikael Landén, Franziska Degenhardt, Hang Zhou, Margarita Rivera, Andrew M. McIntosh, Manuel Mattheisen, Shawn Levy, Roy H. Perlis, John P. Rice, Sigurdur H. Magnusson, Amanda Dobbyn, Michael Conlon O'Donovan, Julien Bryois, Wolfgang Maier, John-Anker Zwart, J. Raymond DePaulo, Martin Alda, Laura G. Sloofman, Friederike Sophie David, James A. Knowles, Aiden Corvin, Thomas G. Schulze, Markus M. Nöthen, Nolan Kamitaki, Nina Dalkner, Brandon J. Coombes, Gustavo Turecki, Allan H. Young, Caroline M. Nievergelt, Patricia T. Michie, Ingrid Agartz, Towfique Raj, Diego Albani, Maria Grigoroiu-Serbanescu, Bernhard T. Baune, Kyooseob Ha, Vincent Millischer, Engilbert Sigurdsson, Eva C. Beins, Nicholas G. Martin, Gulja Babadjanova, Josef Frank, Eva Z. Reininghaus, Patrick F. Sullivan, Ian R. Gizer, Guy A. Rouleau, Carmel M. Loughland, Christine Lochner, Thorsten M. Kranz, Amy Perry, Arne E. Vaaler, Mariam M. Al Eissa, Simon Xi, Claire O'Donovan, Josep Antoni Ramos-Quiroga, Ketil J. Oedegaard, Helmut Vedder, Carol A. Mathews, Panagiotis Ferentinos, Tim B. Bigdeli, Derek W. Morris, Per Hoffmann, Mark Hyman Rapaport, Peter P. Zandi, Michael John Owen, Douglas M. Ruderfer, Anders D. Børglum, Catharina Lavebratt, Thorgeir E. Thorgeirsson, Paul A. Tooney, Michiaki Kubo, Steven A. Kushner, Jan Hillert, Loes M. Olde Loohuis, Anastasia Antoniou, Murielle Brum, Chikashi Terao, Nathaniel W. McGregor, Fabio Rivas, James B. Potash, Kevin S. O’Connell, Susanne Lucae, Brian M. Schilder, Katrin Gade, Stephan Ripke, Kristina Adorjan, Kari Stefansson, Tiffany A. Greenwood, Panos Roussos, Sarah Kittel-Schneider, Steven A. McCarroll, Sergi Papiol, Heon Jeong Lee, Assen Jablensky, Liliya Abramova, Dennis Hellgren, Jonas Bybjerg-Grauholm, Martin Lundberg, Hong-Hee Won, William Byerley, Lars Alfredsson, Joel Gelernter, Andrew McQuillin, Claire Slaney, Marta Ribasés, Stephanie H. Witt, Yoichiro Kamatani, Kyung Sue Hong, Marie Bækvad-Hansen, María Soler Artigas, Julie M. Cunningham, Fanny Senner, Stacy Steinberg, Paul D. Shilling, Nakao Iwata, Eystein Stordal, Armin Birner, Sarah E. Medland, Miquel Casas, Ben Michael Brumpton, Erlend Bøen, Bryan J. Mowry, Jolanta Lissowska, Francis J. McMahon, Howard J. Edenberg, Grant W. Montgomery, John I. Nurnberger, Stéphane Jamain, Claudio Toma, Ney Alliey-Rodriguez, Ole Mors, Micha Gawlik, David Curtis, Catrin Lewis, Evangelia-Eirini Tsermpini, Georgia Panagiotaropoulou, Marcella Rietschel, Jessica Yang, Ian Jones, Eduard Vieta, Ole A. Andreassen, Richard M. Myers, Dimitris Dikeos, Melissa J. Green, Janet L. Sobell, Maria Koromina, Piotr M. Czerski, Lilijana Oruc, Sven Cichon, Udo Dannlowski, Bruno Etain, Monika Budde, Alessia Fiorentino, Naomi R. Wray, Qingqin S. Li, Murray J. Cairns, Jonathan R. I. Coleman, Jose Guzman-Parra, Andreas J. Forstner, Hannah Young, Alfredo B. Cuellar-Barboza, Julian Roth, Torbjørn Elvsåshagen, Zhen Qiao, Thomas Werge, Athanassios Douzenis, Cristiana Cruceanu, Rolf Adolfsson, Peter Holmans, Vaughan J. Carr, Thomas W. Weickert, Masashi Ikeda, Joanna M. Biernacka, Lea Sirignano, Adam X. Maihofer, Ralph W. Kupka, John Strauss, Anders M. Dale, Elliot S. Gershon, Jakob Grove, Arianna Di Florio, Helena Medeiros, Ingrid Melle, Preben Bo Mortensen, Kristi Krebs, Saskia P. Hagenaars, Liz Forty, Stanley V. Catts, David M. Hougaard, Marianne Giørtz Pedersen, Andreas Reif, Toni-Kim Clarke, Anne T. Spijker, Danielle Posthuma, Manolis Kogevinas, Michael Boehnke, Rosa Bosch, Gerome Breen, Benjamin M. Neale, Jessica S. Johnson, Katherine Gordon-Smith, Cristina Sánchez-Mora, Alexander W. Charney, Henry R. Kranzler, Digby Quested, René S. Kahn, Lili Milani, Merete Nordentoft, Nathalie Brunkhorst-Kanaan, Laura M. Huckins, James T.R. Walters, Sigrid Børte, Antonio F. Pardiñas, Kristian Hveem, Julie Garnham, Jacob Lawrence, Vassily Trubetskoy, Rodney J. Scott, Nicholas Bass, Carlos N. Pato, Andrea Pfennig, Wei Xu, Calwing Liao, Nicholas John Craddock, Thomas Damm Als, Christina M. Hultman, Fernando S. Goes, Adebayo Anjorin, Evgenia Porichi, Frans Henskens, Nelson B. Freimer, Janice M. Fullerton, Cathryn M. Lewis, Srdjan Djurovic, Roel A. Ophoff, Phil Lee, Peter McGuffin, Gunnar Morken, George P. Patrinos, Alessandro Serretti, Cynthia Shannon Weickert, Pablo Cervantes, Bendik S. Winsvold, Tatiana Foroud, Tõnu Esko, Ulrich Schall, Michele T. Pato, Ji Hyun Baek, John R. Kelsoe, Olav B. Smeland, Janos Kalman, Eva C. Schulte, Joanna Hauser, Urs Heilbronner, Magnús Haraldsson, Martin Hautzinger, Lea Zillich, Eline J. Regeer, Douglas Blackwood, Laura J. Scott, Jordan W. Smoller, Michael J. Gandal, Marquis P. Vawter, Philip B. Mitchell, Ole Kristian Drange, Peter R. Schofield, Susanne Bengesser, Stefan Herms, George Kirov, Markus Leber, Louise Frisén, Thomas W. Mühleisen, Susan L. McElroy, Irwin D. Waldman, Wade H. Berrettini, Sally I. Sharp, Minsoo Kim, Lisa Jones, Eli A. Stahl, Hreinn Stefansson, Esben Agerbo, Dolores Malaspina, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Psychiatry, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Human genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Reproduction & Development (AR&D), APH - Digital Health, Mullins N., Forstner A.J., O'Connell K.S., Coombes B., Coleman J.R.I., Qiao Z., Als T.D., Bigdeli T.B., Borte S., Bryois J., Charney A.W., Drange O.K., Gandal M.J., Hagenaars S.P., Ikeda M., Kamitaki N., Kim M., Krebs K., Panagiotaropoulou G., Schilder B.M., Sloofman L.G., Steinberg S., Trubetskoy V., Winsvold B.S., Won H.-H., Abramova L., Adorjan K., Agerbo E., Al Eissa M., Albani D., Alliey-Rodriguez N., Anjorin A., Antilla V., Antoniou A., Awasthi S., Baek J.H., Baekvad-Hansen M., Bass N., Bauer M., Beins E.C., Bergen S.E., Birner A., Bocker Pedersen C., Boen E., Boks M.P., Bosch R., Brum M., Brumpton B.M., Brunkhorst-Kanaan N., Budde M., Bybjerg-Grauholm J., Byerley W., Cairns M., Casas M., Cervantes P., Clarke T.-K., Cruceanu C., Cuellar-Barboza A., Cunningham J., Curtis D., Czerski P.M., Dale A.M., Dalkner N., David F.S., Degenhardt F., Djurovic S., Dobbyn A.L., Douzenis A., Elvsashagen T., Escott-Price V., Ferrier I.N., Fiorentino A., Foroud T.M., Forty L., Frank J., Frei O., Freimer N.B., Frisen L., Gade K., Garnham J., Gelernter J., Giortz Pedersen M., Gizer I.R., Gordon S.D., Gordon-Smith K., Greenwood T.A., Grove J., Guzman-Parra J., Ha K., Haraldsson M., Hautzinger M., Heilbronner U., Hellgren D., Herms S., Hoffmann P., Holmans P.A., Huckins L., Jamain S., Johnson J.S., Kalman J.L., Kamatani Y., Kennedy J.L., Kittel-Schneider S., Knowles J.A., Kogevinas M., Koromina M., Kranz T.M., Kranzler H.R., Kubo M., Kupka R., Kushner S.A., Lavebratt C., Lawrence J., Leber M., Lee H.-J., Lee P.H., Levy S.E., Lewis C., Liao C., Lucae S., Lundberg M., MacIntyre D.J., Magnusson S.H., Maier W., Maihofer A., Malaspina D., Maratou E., Martinsson L., Mattheisen M., McCarroll S.A., McGregor N.W., McGuffin P., McKay J.D., Medeiros H., Medland S.E., Millischer V., Montgomery G.W., Moran J.L., Morris D.W., Muhleisen T.W., O'Brien N., O'Donovan C., Olde Loohuis L.M., Oruc L., Papiol S., Pardinas A.F., Perry A., Pfennig A., Porichi E., Potash J.B., Quested D., Raj T., Rapaport M.H., DePaulo J.R., Regeer E.J., Rice J.P., Rivas F., Rivera M., Roth J., Roussos P., Ruderfer D.M., Sanchez-Mora C., Schulte E.C., Senner F., Sharp S., Shilling P.D., Sigurdsson E., Sirignano L., Slaney C., Smeland O.B., Smith D.J., Sobell J.L., Soholm Hansen C., Soler Artigas M., Spijker A.T., Stein D.J., Strauss J.S., Swiatkowska B., Terao C., Thorgeirsson T.E., Toma C., Tooney P., Tsermpini E.-E., Vawter M.P., Vedder H., Walters J.T.R., Witt S.H., Xi S., Xu W., Yang J.M.K., Young A.H., Young H., Zandi P.P., Zhou H., Zillich L., Adolfsson R., Agartz I., Alda M., Alfredsson L., Babadjanova G., Backlund L., Baune B.T., Bellivier F., Bengesser S., Berrettini W.H., Blackwood D.H.R., Boehnke M., Borglum A.D., Breen G., Carr V.J., Catts S., Corvin A., Craddock N., Dannlowski U., Dikeos D., Esko T., Etain B., Ferentinos P., Frye M., Fullerton J.M., Gawlik M., Gershon E.S., Goes F.S., Green M.J., Grigoroiu-Serbanescu M., Hauser J., Henskens F., Hillert J., Hong K.S., Hougaard D.M., Hultman C.M., Hveem K., Iwata N., Jablensky A.V., Jones I., Jones L.A., Kahn R.S., Kelsoe J.R., Kirov G., Landen M., Leboyer M., Lewis C.M., Li Q.S., Lissowska J., Lochner C., Loughland C., Martin N.G., Mathews C.A., Mayoral F., McElroy S.L., McIntosh A.M., McMahon F.J., Melle I., Michie P., Milani L., Mitchell P.B., Morken G., Mors O., Mortensen P.B., Mowry B., Muller-Myhsok B., Myers R.M., Neale B.M., Nievergelt C.M., Nordentoft M., Nothen M.M., O'Donovan M.C., Oedegaard K.J., Olsson T., Owen M.J., Paciga S.A., Pantelis C., Pato C., Pato M.T., Patrinos G.P., Perlis R.H., Posthuma D., Ramos-Quiroga J.A., Reif A., Reininghaus E.Z., Ribases M., Rietschel M., Ripke S., Rouleau G.A., Saito T., Schall U., Schalling M., Schofield P.R., Schulze T.G., Scott L.J., Scott R.J., Serretti A., Shannon Weickert C., Smoller J.W., Stefansson H., Stefansson K., Stordal E., Streit F., Sullivan P.F., Turecki G., Vaaler A.E., Vieta E., Vincent J.B., Waldman I.D., Weickert T.W., Werge T., Wray N.R., Zwart J.-A., Biernacka J.M., Nurnberger J.I., Cichon S., Edenberg H.J., Stahl E.A., McQuillin A., Di Florio A., Ophoff R.A., Andreassen O.A., IMRB - 'Neuropsychiatrie translationnelle' [Créteil] (U955 Inserm - UPEC), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre International de Recherche contre le Cancer - International Agency for Research on Cancer (CIRC - IARC), Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Optimisation thérapeutique en Neuropsychopharmacologie (OPTeN (UMR_S_1144 / U1144)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Etain, Bruno
Subjects: Multifactorial Inheritance, Bipolar Disorder, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Medizin, Genome-wide association study, Major Histocompatibility Complex/genetics, Major Histocompatibility Complex, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, MESH: Bipolar Disorder, Chromosomes, Human, Spectrum disorder, Genetics, 0303 health sciences, Bipolar Disorder/genetics, MESH: Genetic Predisposition to Disease, MESH: Case-Control Studies, Phenotype, Schizophrenia, Synaptic signaling, Case-Control Studie, Human, Quantitative Trait Loci, Biology, MESH: Phenotype, MESH: Chromosomes, Human, Article, 03 medical and health sciences, MESH: Major Histocompatibility Complex, SDG 3 - Good Health and Well-being, ddc:570, medicine, Humans, Genetic Predisposition to Disease, Bipolar disorder, Multifactorial Inheritance/genetics, MESH: Genome, Human, 030304 developmental biology, MESH: Humans, Genome, Human, Risk Factor, Chromosomes, Human/genetics, Mental illness, medicine.disease, MESH: Quantitative Trait Loci, Human genetics, Psychologie, Case-Control Studies, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, MESH: Genome-Wide Association Study, Expression quantitative trait loci, MESH: Multifactorial Inheritance, Quantitative Trait Loci/genetics, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: International audience; Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies.
Published: 2021

33. Common Genetic Variation And Age at Onset Of Anorexia Nervosa

Author: Marion Leboyer, Martin A. Kennedy, Yiran Guo, Stephan Ripke, Roger D. Cone, Nadia Micali, Allan S. Kaplan, Jonathan R. I. Coleman, Michael Strober, Dan Rujescu, Roland Burghardt, Pierre J. Magistretti, John F. Pearson, Stephan Zipfel, Ian Jones, Paul Lichtenstein, Leonid Padyukov, Jurjen J. Luykx, Wade H. Berrettini, Nicolas Ramoz, James I. Hudson, Ulrike Schmidt, Anke Hinney, Tõnu Esko, Johanna Giuranna, Sara Marsal, Johan G. Eriksson, Richard Parker, Roger A.H. Adan, George Dedoussis, Lars Klareskog, Cynthia M. Bulik, Liselotte Petersen, Stephanie Le Hellard, P. Eline Slagboom, Jochen Seitz, Ilka Boehm, Anna Keski-Rahkonen, Joseph M. Boden, Sébastien Guillaume, Xavier Estivill, Yasmina Silén, Elisabeth Widen, Josef Bulant, Marta Tyszkiewicz-Nwafor, Vladimir Janout, Janne Tidselbak Larsen, Artemis Tsitsika, Kirsty Kiezebrink, James E. Mitchell, Lenka Slachtova, Andreas J. Forstner, Harry Brandt, Nicholas G. Martin, James L. Kennedy, Wolfgang Herzog, Jennifer Jordan, Ionna Ntalla, Marie Navratilova, Gun Peggy Knudsen, Stephanie Zerwas, Steven Crawford, Oleksandr Frei, Sven Cichon, Katherine A. Halmi, Scott D. Gordon, Sietske G. Helder, Marion Roberts, Esther Walton, Beate Herpertz-Dahlmann, Martina de Zwaan, Federica Tozzi, Bochao Lin, Beata Świątkowska, Konstantinos Tziouvas, Mikael Landén, Lenka Foretova, Richard M. Myers, Annemarie A. van Elburg, Martien J H Kas, Antonio Julià, Pamela K. Keel, Susana Jiménez-Murcia, Karin Egberts, Alessandro Rotondo, Lars Alfredsson, Hartmut Imgart, L. John Horwood, Margarita Ct. Slof-Op 't Landt, Maria La Via, Dalila Pinto, Danielle M. Dick, Craig Johnson, Xiao Chang, Julie K. O'Toole, Philip Gorwood, Christian R. Marshall, Preben Bo Mortensen, Srdjan Djurovic, Mònica Gratacòs, Laura M. Thornton, Elisa Docampo-Martinez, Jessica H. Baker, Walter H. Kaye, Sandro Sorbi, Catherine M. Olsen, Hakon Hakonarson, Helga Ask, Franziska Ritschel, Agnieszka Słopień, Steven Gallinger, Dong Li, Roel A. Ophoff, Ole A. Andreassen, Andreas Birgegård, Philibert Duriez, Monika Dmitrzak-Weglarz, Alexandra Havdahl, Andrew W. Bergen, Fragiskos Gonidakis, André Scherag, Scott J. Crow, Filip Rybakowski, Tracey D. Wade, Karen S. Mitchell, Claudette Boni, Hunna J. Watson, David C. Whiteman, Ina Giegling, Samuli Ripatti, Palmiero Monteleone, James J. Crowley, Manuel Föcker, Zeynep Yilmaz, Dimitris Dikeos, Stefan Herms, Thomas Werge, Eric F. van Furth, Christian Dina, Nancy L. Pedersen, Mario Maj, Philippe Courtet, Stephanie Jamain, Janet Treasure, Johannes Hebebrand, Hana Papežová, Michael Boehnke, Katharina Buehren, Joanna Hauser, Jacques Pantel, Manfred M. Fichter, Stephen W. Scherer, Gerome Breen, Fernando Fernández-Aranda, Leila Karhunen, Gursharan Kalsi, Geòrgia Escaramís, Anne Farmer, Ingrid Meulenbelt, Janiece E. DeSocio, Valdo Ricca, Lisa Lilenfeld, Laura J. Scott, Stefan Ehrlich, Jolanta Lissowska, Unna N. Danner, Morten Mattingsdal, D. Blake Woodside, Alfonso Tortorella, Anu Raevuori, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Deborah Kaminská, Jaakko Kaprio, Sarah Maguire, Kelly L. Klump, Watson, Hunna J., Thornton, Laura M., Yilmaz, Zeynep, Baker, Jessica H., Coleman, Jonathan RI., Adan, Roger AH., Alfredsson, Lar, Andreassen, Ole A., Ask, Helga, Berrettini, Wade H., Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., de Zwaan, Martina, Dedoussis, George, Desocio, Janiece E., Dick, Danielle M., Dikeos, Dimitri, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G., Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M., Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragisko, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johanne, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hudson, James I., Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R., Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien JH., Keel, Pamela K., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lar, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S., Monteleone, Alessio Maria, Monteleone, Palmiero, Myers, Richard, Navratilova, Marie, Ntalla, Ionna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Pantel, Jacque, Papežová, Hana, Pinto, Dalila, Raevuori, Anu, Ramoz, Nicola, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Scott, Laura J., Seitz, Jochen, Silén, Yasmina, Šlachtová, Lenka, Slagboom, P. Eline, Slof-Op 't Landt, Margarita CT., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemi, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantino, van Elburg, Annemarie A., van Furth, Eric F., Walton, Esther, Widen, Elisabeth, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thoma, Whiteman, David C., Woodside, D Blake, Gordon, Scott, Maguire, Sarah, Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin, Wade, Tracey D., Birgegård, Andrea, Lichtenstein, Paul, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Breen, Gerome, Bulik, Cynthia M., Clinicum, Research Programs Unit, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Helsinki University Hospital Area, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Anna Keski-Rahkonen / Principal Investigator, Department of Public Health, HUS Psychiatry, Nuorisopsykiatria, Centre of Excellence in Complex Disease Genetics, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Faculty Common Matters (Faculty of Social Sciences), Biostatistics Helsinki, Elisabeth Ingrid Maria Widen / Principal Investigator, Genomic Discoveries and Clinical Translation, and Psychiatry
Subjects: Age of onset, Anorexia nervosa, Early-onset, GWAS, Genetic risk score, Genetics, Menarche, Mendelian randomization, Puberty, Genome-wide association study, Biology, Genetic correlation, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Genetic variation, 030304 developmental biology, 0303 health sciences, Mendelian Randomization Analysis, General Medicine, Heritability, 3. Good health, Anorexia nervosa (differential diagnoses), age at onset, 030217 neurology & neurosurgery, Demography
Abstract: BackgroundGenetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.MethodsA secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (ResultsTwo loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism–h2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN.ConclusionsOur results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction. Background: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche. Methods: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN. Conclusions: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
Published: 2021

34. Application of two job indices for general occupational demands in a pooled analysis of case–control studies on lung cancer

Author: Neil E. Caporaso, Ann Olsson, Dana Mates, Cristina Fortes, Tamás Pándics, Simonato Lorenzo, Jolanta Lissowska, Kurt Straif, Beate Pesch, Jan Hovanec, Guillermo Fernández-Tardón, Hans Kromhout, Pascal Guénel, Karl-Heinz Jöckel, Eleonora Fabianova, Roel Vermeulen, Wolfgang Ahrens, Stefan Karrasch, Hermann Pohlabeln, John K. Field, Joachim Schüz, Vladimir Bencko, Beata Świątkowska, Thomas Brüning, Dario Consonni, Danièle Luce, Thomas Behrens, Maria Teresa Landi, David I. Conway, John R. McLaughlin, Per Gustavsson, Paolo Boffetta, Marie-Élise Parent, Vladimir Janout, Franco Merletti, Lorenzo Richiardi, Lenka Foretova, Heinz-Erich Wichmann, David Zaridze, Swaantje Casjens, Paul A. Demers, Jack Siemiatycki, IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Ruhr-Universität Bochum [Bochum], Institute for Prevention and Occupational Medicine of the German Social Accident Insurance (IPA), Centre de Recherche du Centre Hospitalier de l’Université de Montréal (CR CHUM), Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal (UdeM)-Université de Montréal (UdeM), University of Glasgow, Centre International de Recherche contre le Cancer - International Agency for Research on Cancer (CIRC - IARC), Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Ruhrlandklinik University Hospital, Leibniz Institute for Prevention Research and Epidemiology - BIPS, Leibniz Association, Universität Bremen, Helmholtz Zentrum München = German Research Center for Environmental Health, Ludwig-Maximilians-Universität München (LMU), Karolinska Institute, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Università degli studi di Torino = University of Turin (UNITO), Azienda Ospedale Università di Padova = Hospital-University of Padua (AOUP), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Toronto, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Universidad de Oviedo [Oviedo], CIBER de Epidemiología y Salud Pública (CIBERESP), N.N. Blokhin National Medical Research Center of Oncology, Nofer Institute of Occupational Medicine (NIOM), National Public Health Centre, Medical University of Warsaw - Poland, University of Liverpool, National Institute of Public Health [Romania] (INSP), Charles University [Prague] (CU), Masaryk Memorial Cancer Institute (MMCI), Palacky University Olomouc, Universiteit Utrecht, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Stony Brook University [SUNY] (SBU), State University of New York (SUNY), German Social Accident Insurance [FP 271], Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Helmholtz-Zentrum München (HZM), University of Turin, University Hospital of Padua, Masaryk Memorial Cancer Institute (RECAMO), Chard-Hutchinson, Xavier, Hovanec J., Siemiatycki J., Conway D.I., Olsson A., Guenel P., Luce D., Jockel K.-H., Pohlabeln H., Ahrens W., Karrasch S., Wichmann H.-E., Gustavsson P., Consonni D., Merletti F., Richiardi L., Simonato L., Fortes C., Parent M.-E., McLaughlin J.R., Demers P., Landi M.T., Caporaso N., Fernandez-Tardon G., Zaridze D., Swiatkowska B., Pandics T., Lissowska J., Fabianova E., Field J.K., Mates D., Bencko V., Foretova L., Janout V., Kromhout H., Vermeulen R., Boffetta P., Straif K., Schuz J., Casjens S., Pesch B., Bruning T., and Behrens T.
Subjects: Male, Lung Neoplasms, Occupational prestige, Short Communication, [SDV]Life Sciences [q-bio], Medizin, Logistic regression, 03 medical and health sciences, occupational demand, 0302 clinical medicine, Occupational Exposure, medicine, Odds Ratio, case–control, Humans, cancer, Risk factor, Occupations, Lung cancer, job index, business.industry, Environmental and Occupational Health, Smoking, Public Health, Environmental and Occupational Health, Cancer, Odds ratio, Social prestige, medicine.disease, 030210 environmental & occupational health, Confidence interval, Key terms job index, [SDV] Life Sciences [q-bio], lung cancer, Tumor subtype, Case-Control Studies, Female, Public Health, Public aspects of medicine, RA1-1270, business, Psychosocial, Tumor Subtype, Job index, Social Prestige, Demography
Abstract: The German Social Accident Insurance supported this study (grant number FP 271)., Hovanec J, Siemiatycki J, Conway DI, Olsson A, Guenel P, Luce D, Jöckel KH, Pohlabeln H, Ahrens W, Karrasch S, Wichmann HE, Gustavsson P, Consonni D, Merletti F, Richiardi L, Lorenzo S, Fortes C, Parent MÉ, McLaughlin JR, Demers P, Landi MT, Caporaso N, Fernández-Tardón G, Zaridze D, Świątkowska B, Pándics T, Lissowska J, Fabianova E, Field JK, Mates D, Bencko V, Foretova L, Janout V, Kromhout H, Vermeulen R, Boffetta P, Straif K, Schüz J, Casjens S, Pesch B, Brüning T, Behrens T.
Published: 2021

35. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Author: Samuel Kuperman, Leila Karhunen, Geòrgia Escaramís, Sébastien Guillaume, Kelly L. Klump, David C. Whiteman, Colin A. Hodgkinson, Stephanie H. Witt, Artemis Tsitsika, Hana Papezova, Renato Polimanti, P. Eline Slagboom, Peter Zill, Jakob Grove, Toni-Kim Clarke, Michael Soyka, Jennifer Jordan, Steven Gallinger, Philip Gorwood, Preben Bo Mortensen, Yuri Milaneschi, Ingrid Meulenbelt, Jen Chyong Wang, Markus M. Nöthen, Katrin Männik, Henry R. Kranzler, Michael M. Vanyukov, Anna Keski-Rahkonen, William G. Iacono, Raymond K. Walters, Stephanie Le Hellard, Bochao Danae Lin, Vesna Boraska Perica, Marion Roberts, Patrick F. Sullivan, Steven Crawford, Mark A. Frye, Melissa A. Munn-Chernoff, Hakon Hakonarson, Andreas Birgegård, Robert Culverhouse, Alexis C. Edwards, Jerome C. Foo, Alessandro Rotondo, Brenda W.J.H. Penninx, Laura M. Hack, Michael T. Lynskey, Mario Maj, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Julie K. O'Toole, Marta Tyszkiewicz-Nwafor, Matt McGue, Julien Bryois, Martina de Zwaan, Norbert Dahmen, Stefanie Heilmann-Heimbach, Deborah Kaminská, Benedetta Nacmias, Nicholas G. Martin, Anna R. Docherty, Christopher Hübel, Nancy L. Pedersen, Janet Treasure, William E. Copeland, Roger A.H. Adan, Jaakko Kaprio, Aarno Palotie, L. John Horwood, Maria La Via, Philippe Courtet, Virpi M. Leppä, Judy L. Silberg, Jason D. Boardman, Fazil Aliev, Wade H. Berrettini, Doo Sup Choi, Youl-Ri Kim, Konstantinos Hatzikotoulas, Harriet de Wit, Sandra A. Brown, Elisabeth Widen, Caroline Hayward, Nicholas J. Schork, Penelope A. Lind, Ralph E. Tarter, Jana Strohmaier, Allan S. Kaplan, Richard A. Grucza, Bradley T. Webb, Angela Favaro, Dalila Pinto, Helena Gaspar, Andrew W. Bergen, Beate Herpertz-Dahlmann, Robert Levitan, Wolfgang Gäbel, Xavier Estivill, Emma C. Johnson, Konstantinos Tziouvas, Lindsay A. Farrer, Lenka Foretova, Marc A. Schuckit, Joanna M. Biernacka, André Scherag, Robbee Wedow, Abraham A. Palmer, Amy E. Adkins, Franziska Degenhardt, Louisa Degenhardt, Jurjen J. Luykx, Marius Lahti-Pulkkinen, Brien P. Riley, Monika Ridinger, Matteo Cassina, Harry Brandt, Yiran Guo, Stephan Ripke, Palmiero Monteleone, Katri Räikkönen, Jonathan R. I. Coleman, Martin A. Kennedy, Stephen W. Scherer, Ioanna Tachmazidou, Catherine M. Olsen, Bernice Porjesz, Esther Walton, Yi-Ling Chou, Nicolas Ramoz, Tetsuya Ando, Andres Metspalu, Bertram Müller-Myhsok, Brion S. Maher, Sarah Bertelsen, Melanie L. Schwandt, Janiece E. DeSocio, Margaret Keyes, John F. Pearson, Dongbing Lai, Paul Lichtenstein, James MacKillop, George Dedoussis, Jari Lahti, Ulrike Schmidt, Stefan Ehrlich, Amanda G. Wills, Teemu Palviainen, David Goldman, Elena Tenconi, Dimitris Dikeos, Scott I. Vrieze, Sietske G. Helder, Katharina Buehren, Hongyu Zhao, Sara McDevitt, Jolanta Lissowska, Joseph M. Boden, Li-Shiun Chen, Susanne Lucae, Sara Marsal, Dan Rujescu, Claes Norring, Howard J. Edenberg, Victor M. Karpyak, Fragiskos Gonidakis, Per Hoffmann, Christopher S. Franklin, Karin Egberts, Johanna Giuranna, Stefan Herms, Leah Wetherill, Stephanie Zerwas, Anthony Batzler, Elliot C. Nelson, Jouke-Jan Hottenga, Marcella Rietschel, Ioanna Ntalla, Victor Hesselbrock, Sarah M. Hartz, Marie Navratilova, Falk Kiefer, Martien J H Kas, Richard J. Rose, Andrew C. Heath, Jin P. Szatkiewicz, Lenka Slachtova, Lisa Lilenfeld, Katherine A. Halmi, John P. Rice, Anjali K. Henders, Christian Dina, Norbert Wodarz, Satu Männistö, Hamdi Mbarek, Shuyang Yao, Vladimir Janout, Alison Goate, Bettina Konte, Alexandra Schosser, Danfeng Chen, Kirsty Kiezebrink, Euijung Ryu, Dana B. Hancock, James Mitchell, Sarah E. Medland, Ina Giegling, Valdo Ricca, Scott D. Gordon, Gabrielle Koller, Samuli Ripatti, Laura M. Thornton, Alison D. Murray, Morten Mattingsdal, Zeynep Yilmaz, Jens Treutlein, Kathleen K. Bucholz, Tim B. Bigdeli, Eric F. van Furth, Hermine H. Maes, Ken B. Hanscombe, Sandra Sanchez-Roige, Daniela Degortes, Monica Forzan, Manuel Mattheisen, Richard Sherva, Scott J. Crow, Mikael Landén, Wolfgang Herzog, Jeanette N. McClintick, Tõnu Esko, Louis Fox, Wolfgang Maier, Liselotte Petersen, Laura J. Bierut, Roseann E. Peterson, Gursharan Kalsi, Kathleen Mullan Harris, Margarita C T Slof-Op 't Landt, Tamara L. Wall, Patrik K. E. Magnusson, Unna N. Danner, Stephan Zipfel, Ulrich W. Preuss, Elisa Docampo, D. Blake Woodside, Alfonso Tortorella, Benjamin W. Domingue, Franziska Ritschel, Johan G. Eriksson, Anu Raevuori, Benjamin M. Neale, Marcus Ising, Annemarie A. van Elburg, Filip Rybakowski, Maureen Reynolds, Tracey D. Wade, Manfred M. Fichter, Monica Gratacos Mayora, Claudette Boni, Andreas J. Forstner, John Whitfield, Silviu Alin Bacanu, Matthew B. McQueen, Andrew M. McIntosh, Norbert Scherbaum, Tatiana Foroud, Gun Peggy Knudsen, Sven Cichon, Christian J. Hopfer, Josef Frank, Eleftheria Zeggini, Federica Tozzi, Nadia Micali, Danielle M. Dick, Pamela A. F. Madden, Christian R. Marshall, Johannes Hebebrand, Fernando Fernández-Aranda, Roel A. Ophoff, Roland Burghardt, Nathaniel Thomas, Leonid Padyukov, Nancy L. Saccone, Anu Loukola, Fabian Streit, James L. Kennedy, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Pei Hong Shen, Anne Farmer, Roger D. Cone, Ilka Boehm, Jacquelyn L. Meyers, Paolo Santonastaso, Maurizio Clementi, Susana Jiménez-Murcia, Gudrun Wagner, Anke Hinney, Richard Parker, James I. Hudson, Nathan A. Gillespie, Michael Strober, John I. Nurnberger, Sandro Sorbi, Dorret I. Boomsma, Beata Świątkowska, Janne Tidselbak Larsen, Kenneth S. Kendler, Hidetoshi Inoko, Jessica E. Salvatore, Hunna J. Watson, Jochen Seitz, Jacques Pantel, Karl Mann, Hang Zhou, Antonio Julià, Oliver S. P. Davis, Nancy Diazgranados, Krista Fischer, John K. Hewitt, Karen S. Mitchell, Joanna Hauser, Eric O. Johnson, Craig Johnson, E. Jane Costello, Agnieszka Słopień, Dong Li, Laramie E. Duncan, Arpana Agrawal, Grant W. Montgomery, Manuel Föcker, Thomas Werge, Lannie Ligthart, Andreas Karwautz, Raquel Rabionet, Kenneth Krauter, Joel Gelernter, James J. Crowley, Cynthia M. Bulik, Paola Giusti-Rodríguez, Laura M. Huckins, Gerome Breen, Michael C. Stallings, Daniel E. Adkins, Pierre J. Magistretti, John Kramer, Lars Alfredsson, Hartmut Imgart, Annette M. Hartmann, Ole A. Andreassen, Monika Dmitrzak-Weglarz, Psychiatry, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Department Psychiatry [Chapel Hill], University of North Carolina System (UNC)-University of North Carolina System (UNC), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], QIMR Berghofer Medical Research Institute, Karolinska Institutet [Stockholm], University Children's Hospital of Essen [Essen, Germany], University of Duisburg-Essen, Aarhus University [Aarhus], Stockholm County Council, University of Würzburg, Guy's Hospital [London], University Medical Center [Utrecht], University of Gothenburg (GU), Altrecht Center for Eating Disorders Rintveld [Zeist, The Netherlands] (Mental Health Institute), National Institute of Mental Health [Tokyo, Japan] (NIMH), National Center of Neurology and Psychiatry [Tokyo, Japan], University of Oslo (UiO), Norwegian Centre for Mental Disorders Research [Oslo] (NORMENT), University of Oslo (UiO)-Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB)-Oslo University Hospital [Oslo], Department of Psychiatry [Philadelphia], University of Pennsylvania [Philadelphia], Perelman School of Medicine, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Split, The Wellcome Trust Sanger Institute [Cambridge], RWTH Aachen University, Universitätsklinikum Frankfurt, Universita degli Studi di Padova, University Hospital Basel [Basel], Jülich Supercomputing Centre (JSC), Forschungszentrum Jülich GmbH | Centre de recherche de Juliers, Helmholtz-Gemeinschaft = Helmholtz Association-Helmholtz-Gemeinschaft = Helmholtz Association, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Minnesota System, University of Bristol [Bristol], Hannover Medical School [Hannover] (MHH), Harokopio University of Athens, Seattle University [Seattle], Virginia Commonwealth University (VCU), University of Athens Medical School [Athens], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Poznan University of Medical Sciences [Poland] (PUMS), Institute of Environmental Science and Technology [Barcelona] (ICTA), Universitat Autònoma de Barcelona (UAB), Massachusetts General Hospital [Boston], Stanford University, MetaGenoPolis (MGP (US 1367)), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Estonian Genome and Medicine, University of Tartu, Universitat Pompeu Fabra [Barcelona] (UPF), MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), The Institute of Psychiatry-King‘s College London, Department of Psychiatry (IDIBELL), CIBERobn Fisiopatología de la Obesidad y Nutrición-University Hospital of Bellvitge, Ludwig-Maximilians-Universität München (LMU), Infectious diseases division, Department of internal medicine, University of Münster, Masaryk Memorial Cancer Institute, Masaryk Memorial Cancer Institute (RECAMO), Universitätsklinikum Bonn (UKB), Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital [Toronto, Canada] (MSH), Medstar Research Institute, Universität Duisburg-Essen [Essen], National and Kapodistrian University of Athens (NKUA), Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics, Psychiatric Genetic Unit, Poznan University of Medical Sciences, Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinikum Essen, Centre for Epidemiology and Biostatistics, Faculty of Medicine and Health Leeds, University of Leeds, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Heidelberg University Hospital [Heidelberg], Icahn School of Medicine at Mount Sinai [New York] (MSSM), School of Biomedical Sciences, The University of Queensland, Brisbane, QLD, 4072, Australia., Parkland-Klinik [Bad Wildungen-Reinhardshausen, Germany], Tokai University, Department of Epidemiology and Public Health [university of Ostrava], Lékařská fakulta / Faculty of Medicine [University of Ostrava], Ostravská univerzita / University of Ostrava-Ostravská univerzita / University of Ostrava, Vall d'Hebron University Hospital [Barcelona], Charles University [Prague] (CU), University of Eastern Finland, Medizinische Universität Wien = Medical University of Vienna, Centre de toxicomanie et de santé mentale [Toronto, ON, Canada], University of Helsinki, University of Aberdeen, Faculty of Science, J.E. Purkinje University, J. E. Purkinje University, Michigan State University System, Norwegian Institute of Public Health [Oslo] (NIPH), Haukeland University Hospital, University of Bergen (UiB), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), The Chicago School of Professional Psychology [Washington, District of Columbia, USA] (Washington DC Campus), Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Brain and Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), Department of Psychiatry, University of Napoli, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], University College Cork (UCC), Section Molecular Epidemiology, Leiden University Medical Center (LUMC), Institute of Psychiatry, King's College, VA Boston Healthcare System, Università degli studi della Campania 'Luigi Vanvitelli', Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Kartini Clinic [Portland, Oregon, USA], University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Head of Medical Sequencing, Vanderbilt University School of Medicine [Nashville], The Hospital for sick children [Toronto] (SickKids), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), Department of Medical Epidemiology and Biostatistics (MEB), University of Pisa - Università di Pisa, Division of Psychiatric Genomics, Institute of Medical Informatics, Biometry and Epidemiology, Department of Molecular and Experimental Medicine, The Scripps Research Institute, The Scripps Research Institute, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University-Medical Research Council, Leiden University Medical Center (LUMC), Center for Eating Disorders Ursula [Leiden, The Netherlands] (Rivierduinen), Medical University of Łódź (MUL), The Jackson Laboratory [Bar Harbor] (JAX), Neurosciences Centre of Excellence in Drug Discovery, GlaxoSmithKline Research and Development, Utrecht University [Utrecht], SURFACES, Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Human Genetics, Internal Medicine [Tuebingen, Germany], Tuebingen University [Germany], Oregon Research Institute (ORI), University of Otago [Dunedin, Nouvelle-Zélande], The Center for Eating Disorders at Sheppard Pratt [Baltimore, MD, USA], Weill Medical College of Cornell University [New York], Eating Recovery Center [Denver, CO, USA], Centre for Addiction and Mental Health [Toronto, ON, Canada], University of California [San Diego] (UC San Diego), University of California, Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Center for Genomic Medicine, Copenhagen University Hospital-Rigshospitalet [Copenhagen], Copenhagen University Hospital, Institute of Medical Science [Toronto], University of Toronto, Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Sahlgrenska Academy at University of Gothenburg [Göteborg], Department of Genomics, Yale University School of Medicine, Indiana University School of Medicine, Indiana University System, Mayo Clinic [Rochester], Mayo Clinic, SUNY Downstate Medical Center, State University of New York (SUNY), University of Edinburgh, Department of Genomics, Life and Brain Center, University of Bonn, University of Utah School of Medicine [Salt Lake City], University of Heidelberg, Medical Faculty, Department of Psychiatry and Behavioral Sciences, Howard University College of Medicine, Department of Genomics [Bonn, Germany] (Institute of Human Genetics), University of Bonn-Institute of Human Genetics [Bonn, Germany], National Institutes of Health [Bethesda] (NIH), National Institute on Alcohol Abuse and Alcoholism [Bethesda, MD, USA] (NIAAA), Martin-Luther-University Halle-Wittenberg, Helsinki Institute of Life Science (HiLIFE), Johns Hopkins Bloomberg School of Public Health [Baltimore], Johns Hopkins University (JHU), Vrije Universiteit Amsterdam [Amsterdam] (VU), Mathematical Sciences Institute (MSI), Australian National University (ANU), University of Colorado [Boulder], VU University Medical Center [Amsterdam], Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Universität Heidelberg [Heidelberg], Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Harvard University [Cambridge], University of Colorado Anschutz [Aurora], University of Vermont [Burlington], University of New South Wales [Sydney] (UNSW), University of Dusseldorf, Genetics and Pathology, Center for Human Genetic Research, Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Heidelberg University, University of Iowa [Iowa City], Vienna University of Technology (TU Wien), Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Department of Psychiatry and Psychotherapy, Rheinische Friedrich-Wilhelms-Universität Bonn, Chronic Disease Epidemiology and Prevention Unit, National Institute for Health and Welfare [Helsinki], Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Indiana University System-Indiana University System, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Regensburg, Rush University Medical Center [Chicago], University of Utah, Duke University Medical Center, University of Illinois [Chicago] (UIC), University of Illinois System, Department of Medical and Molecular Genetics, Dpt of Neuroscience [New York], Laboratory of Neurogenetics, National Institutes of Health [Bethesda] (NIH)-National Institute on Alcohol Abuse and Alcoholism, Department of Health and Human Services, University of Connecticut (UCONN), University of Colorado [Denver], Research Triangle Institute International (RTI International), McMaster University [Hamilton, Ontario], CLinical Psychology, Department of Electrical and Computer Engineering [Montréal], McGill University = Université McGill [Montréal, Canada], Yale School of Public Health (YSPH), Analytic and Translational Genetics Unit, Flinders University [Adelaide, Australia], Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Department of Public Health, Indiana University - Purdue University Indianapolis (IUPUI), National Institute of Mental Health (NIMH), University of Pennsylvania, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Università degli Studi di Padova = University of Padua (Unipd), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), King‘s College London-The Institute of Psychiatry, Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Masaryk Memorial Cancer Institute (MMCI), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Università degli Studi di Firenze = University of Florence (UniFI), Department of Molecular Medicine [Scripps Research Institute], The Scripps Research Institute [La Jolla, San Diego], Medical Research Council-Cardiff University, Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of California (UC), University of California (UC)-University of California (UC), Yale School of Medicine [New Haven, Connecticut] (YSM), Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Martinez Rico, Clara, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Complex Trait Genetics, APH - Digital Health, Kas lab, Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL), Munn-Chernoff, M. A., Johnson, E. C., Chou, Y. -L., Coleman, J. R. I., Thornton, L. M., Walters, R. K., Yilmaz, Z., Baker, J. H., Hubel, C., Gordon, S., Medland, S. E., Watson, H. J., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Berrettini, W. H., Boehm, I., Boni, C., Boraska Perica, V., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M. M., Fischer, K., Focker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Gratacos Mayora, M., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Julia, A., Kalsi, G., Kaminska, D., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Levitan, R. D., Li, D., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P. J., Maj, M., Mannik, K., Marsal, S., Marshall, C. R., Mattingsdal, M., Mcdevitt, S., Mcguffin, P., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, K., Monteleone, A. M., Monteleone, P., Nacmias, B., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op't Landt, M. C. T., Slopien, A., Sorbi, S., Swiatkowska, B., Szatkiewicz, J. P., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Walton, E., Widen, E., Zeggini, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Grove, J., Henders, A. K., Larsen, J. T., Parker, R., Petersen, L. V., Jordan, J., Kennedy, M. A., Birgegard, A., Lichtenstein, P., Norring, C., Landen, M., Mortensen, P. B., Polimanti, R., Mcclintick, J. N., Adkins, A. E., Aliev, F., Bacanu, S. -A., Batzler, A., Bertelsen, S., Biernacka, J. M., Bigdeli, T. B., Chen, L. -S., Clarke, T. -K., Degenhardt, F., Docherty, A. R., Edwards, A. C., Foo, J. C., Fox, L., Frank, J., Hack, L. M., Hartmann, A. M., Hartz, S. M., Heilmann-Heimbach, S., Hodgkinson, C., Hoffmann, P., Hottenga, J. -J., Konte, B., Lahti, J., Lahti-Pulkkinen, M., Lai, D., Ligthart, L., Loukola, A., Maher, B. S., Mbarek, H., Mcintosh, A. M., Mcqueen, M. B., Meyers, J. L., Milaneschi, Y., Palviainen, T., Peterson, R. E., Ryu, E., Saccone, N. L., Salvatore, J. E., Sanchez-Roige, S., Schwandt, M., Sherva, R., Streit, F., Strohmaier, J., Thomas, N., Wang, J. -C., Webb, B. T., Wedow, R., Wetherill, L., Wills, A. G., Zhou, H., Boardman, J. D., Chen, D., Choi, D. -S., Copeland, W. E., Culverhouse, R. C., Dahmen, N., Degenhardt, L., Domingue, B. W., Frye, M. A., Gaebel, W., Hayward, C., Ising, M., Keyes, M., Kiefer, F., Koller, G., Kramer, J., Kuperman, S., Lucae, S., Lynskey, M. T., Maier, W., Mann, K., Mannisto, S., Muller-Myhsok, B., Murray, A. D., Nurnberger, J. I., Preuss, U., Raikkonen, K., Reynolds, M. D., Ridinger, M., Scherbaum, N., Schuckit, M. A., Soyka, M., Treutlein, J., Witt, S. H., Wodarz, N., Zill, P., Adkins, D. E., Boomsma, D. I., Bierut, L. J., Brown, S. A., Bucholz, K. K., Costello, E. J., de Wit, H., Diazgranados, N., Eriksson, J. G., Farrer, L. A., Foroud, T. M., Gillespie, N. A., Goate, A. M., Goldman, D., Grucza, R. A., Hancock, D. B., Harris, K. M., Hesselbrock, V., Hewitt, J. K., Hopfer, C. J., Iacono, W. G., Johnson, E. O., Karpyak, V. M., Kendler, K. S., Kranzler, H. R., Krauter, K., Lind, P. A., Mcgue, M., Mackillop, J., Madden, P. A. F., Maes, H. H., Magnusson, P. K. E., Nelson, E. C., Nothen, M. M., Palmer, A. A., Penninx, B. W. J. H., Porjesz, B., Rice, J. P., Rietschel, M., Riley, B. P., Rose, R. J., Shen, P. -H., Silberg, J., Stallings, M. C., Tarter, R. E., Vanyukov, M. M., Vrieze, S., Wall, T. L., Whitfield, J. B., Zhao, H., Neale, B. M., Wade, T. D., Heath, A. C., Montgomery, G. W., Martin, N. G., Sullivan, P. F., Kaprio, J., Breen, G., Gelernter, J., Edenberg, H. J., Bulik, C. M., and Agrawal, A.
Subjects: Netherlands Twin Register (NTR), Alcoholism/genetics, Schizophrenia/genetics, [SDV]Life Sciences [q-bio], [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Medizin, Medicine (miscellaneous), Genome-wide association study, Alcohol use disorder, Anorexia nervosa, Linkage Disequilibrium, ddc:616.89, [SCCO]Cognitive science, 0302 clinical medicine, Risk Factors, Tobacco Use Disorder/genetics, Substance-Related Disorders/genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Factors de risc en les malalties, Bulimia nervosa, Feeding and Eating Disorders/genetics, eating disorders, genetic correlation, substance use, Tobacco Use Disorder, 3. Good health, Fenotip, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Alcoholism, Eating disorders, Phenotype, Schizophrenia, Drinking of alcoholic beverages, eating disorder, Consum d'alcohol, Major depressive disorder, medicine.symptom, Depressive Disorder, Major/genetics, eating disorders, genetic correlation, substance use, Clinical psychology, Substance abuse, Risk factors in diseases, Substance-Related Disorders, Polymorphism, Single Nucleotide, Article, Feeding and Eating Disorders, 03 medical and health sciences, SDG 3 - Good Health and Well-being, mental disorders, Genetics, medicine, Humans, Trastorns de la conducta alimentària, 030304 developmental biology, Genetic association, Pharmacology, Depressive Disorder, Major, Binge eating, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SCCO] Cognitive science, medicine.disease, Comorbidity, Twin study, 030227 psychiatry, Abús de substàncies, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, business, Genètica, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genome-Wide Association Study
Abstract: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa (BN) and problem alcohol use (genetic correlation [rg], twin-based=0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge-eating, AN without binge-eating, and a BN factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder (MDD). Total sample sizes per phenotype ranged from ~2,400 to ~537,000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg=0.18; false discovery rate q=0.0006), cannabis initiation and AN (rg=0.23; qwith binge-eating (rg=0.27; q=0.0016). Conversely, significant negative genetic correlations were observed between three non-diagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge-eating (rgs=-0.19 to −0.23; qs
Published: 2021

36. [Health protection of employees against SARS-CoV-2 coronavirus infection causing the COVID-19 disease - the current state of knowledge and recommendations]

Author: Jolanta Walusiak-Skorupa, Grzegorz Juszczyk, Beata Świątkowska, Agnieszka Lipińska-Ojrzanowska, Krzysztof Socha, and Rafał Gierczyński
Subjects: medicine.medical_specialty, Scopus, Occupational disease, sars‑cov, Disease, Occupational medicine, Risk Factors, Epidemiology, Pandemic, Medicine, Humans, Workplace, Pandemics, business.industry, Transmission (medicine), pandemic, lcsh:Public aspects of medicine, Public Health, Environmental and Occupational Health, Outbreak, COVID-19, lcsh:RA1-1270, General Medicine, medicine.disease, health care, employees, recommendations, Practice Guidelines as Topic, Medical emergency, business
Abstract: The COVID-19 pandemic, despite the restrictions and preventive measures applied, has rapidly spread and reached Poland. The adaptation to the dynamically changing epidemiological situation requires a prompt implementation of effective preventive measures. The aim of the publication is to provide current knowledge to all persons involved in the preventive care system, i.e., employees, employers and professionals of occupational medicine, about the epidemiological situation related to SARS‑CoV- 2, as well as recommendations and possible solutions. In order to analyze these issues, a review of literature was conducted based on medical research databases: PubMed, SCOPUS, and the Web of Science Core Collection. The literature was supplemented with studies found on websites of the Ministry of Health and the World Health Organization. Data on the cases of and deaths due to COVID-19 come from reports provided by the Ministry of Health, data published on the websites of the European Center for Disease Prevention and Control, and ourworldindata.org. By the time of submitting the publication, 34 154 cases and 1444 deaths due to coronavirus had been recorded in Poland. Data from published studies suggest that the virus is mainly transmitted via droplets or through contact with contaminated objects and surfaces. Therefore, in the absence of an effective vaccine, preventive actions are based mainly on strategies that minimize the risk of pathogen transmission. In addition to discussing the current epidemiological situation, diagnostic procedures, risk groups and COVID-19 characteristics, the paper presents recommendations and proposed solutions for employers and employees regarding the prevention of SARS‑CoV- 2, along with currently applicable laws and recommendations on employee prophylactic examinations during the pandemic. Subsequently, COVID-19 was discussed in the aspect of an occupational disease and other health threats related to the pandemics. The epidemiological situation regarding coronavirus indicates the need to take immediate and effective actions to minimize infection transmission among employees, and to develop procedures for a quick and effective ability to locate the COVID-19 outbreaks in workplaces. Med Pr. 2021;72(1):69-87.Pandemia COVID-19 – mimo wprowadzanych ograniczeń i działań zapobiegawczych – w niedługim czasie rozprzestrzeniła się i dotarła także do Polski. Dostosowanie do dynamicznie zmieniającej się sytuacji epidemiologicznej wymaga szybkiej implementacji efektywnych działań prewencyjnych. Celem tej publikacji jest dostarczenie wszystkim osobom zaangażowanym w system opieki profilaktycznej – pracownikom, pracodawcom i profesjonalistom służby medycyny pracy – aktualnej wiedzy dotyczącej sytuacji epidemiologicznej związanej z SARS‑CoV-2 oraz połączonych z nią zaleceń i rozwiązań. W celu analizy tej problematyki przeprowadzono przegląd piśmiennictwa, wykorzystując internetowe bazy medycznych doniesień naukowych: PubMed, SCOPUS i Web of Science Core Collection. Literaturę uzupełniono o opracowania zagadnień znajdujących się na rzetelnych stronach internetowych, m.in. serwisach Ministerstwa Zdrowia (MZ) i Światowej Organizacji Zdrowia. Dane dotyczące zachorowań i zgonów z powodu COVID-19 pochodzą z raportów udostępnianych przez MZ, danych publikowanych na stronach Europejskiego Centrum ds. Zapobiegania i Kontroli Chorób oraz globalnego serwisu analitycznego ourworldindata.org. W chwili złożenia publikacji w Polsce odnotowano 34 154 przypadki zakażeń i 1444 zgony z powodu koronawirusa. Dane z opublikowanych badań sugerują, że wirus przenosi się głównie drogą kropelkową lub przez kontakt z zanieczyszczonymi przedmiotami i powierzchniami. Dlatego przy braku możliwości zastosowania skutecznej szczepionki działania prewencyjne opierają się głównie na strategiach minimalizujących ryzyko transmisji patogenu. Oprócz omówienia aktualnej sytuacji epidemiologicznej, procedur diagnostycznych, grup ryzyka i charakterystyki przebiegu COVID-19 w artykule przedstawiono zalecenia i zaproponowano rozwiązania dla pracodawców i pracowników dotyczące zapobiegania transmisji SARS‑CoV-2 oraz aktualnie obowiązujące przepisy prawa i zalecenia dotyczące badań profilaktycznych pracowników w okresie pandemii. W dalszej kolejności omówiono COVID-19 w aspekcie choroby zawodowej oraz wskazano inne zagrożenia zdrowotne związane z pandemią. Sytuacja epidemiologiczna dotycząca koronawirusa wskazuje na konieczność podejmowania natychmiastowych i skutecznych działań minimalizujących transmisję zakażenia wśród pracowników oraz opracowania procedur postępowania w celu szybkiej i skutecznej zdolności do lokalizowania i wygaszania ognisk COVID-19 w zakładach pracy. Med. Pr. 2021;72(1):69–87.
Published: 2020

37. Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: Niamh Mullins, Andreas J. Forstner, Kevin S. O’Connell, Brandon Coombes, Jonathan R. I. Coleman, Zhen Qiao, Thomas D. Als, Tim B. Bigdeli, Sigrid Børte, Julien Bryois, Alexander W. Charney, Ole Kristian Drange, Michael J. Gandal, Saskia P. Hagenaars, Masashi Ikeda, Nolan Kamitaki, Minsoo Kim, Kristi Krebs, Georgia Panagiotaropoulou, Brian M. Schilder, Laura G. Sloofman, Stacy Steinberg, Vassily Trubetskoy, Bendik S. Winsvold, Hong-Hee Won, Liliya Abramova, Kristina Adorjan, Esben Agerbo, Mariam Al Eissa, Diego Albani, Ney Alliey-Rodriguez, Adebayo Anjorin, Verneri Antilla, Anastasia Antoniou, Swapnil Awasthi, Ji Hyun Baek, Marie Bækvad-Hansen, Nicholas Bass, Michael Bauer, Eva C. Beins, Sarah E. Bergen, Armin Birner, Carsten Bøcker Pedersen, Erlend Bøen, Marco P. Boks, Rosa Bosch, Murielle Brum, Ben M. Brumpton, Nathalie Brunkhorst-Kanaan, Monika Budde, Jonas Bybjerg-Grauholm, William Byerley, Murray Cairns, Miquel Casas, Pablo Cervantes, Toni-Kim Clarke, Cristiana Cruceanu, Alfredo Cuellar-Barboza, Julie Cunningham, David Curtis, Piotr M. Czerski, Anders M. Dale, Nina Dalkner, Friederike S. David, Franziska Degenhardt, Srdjan Djurovic, Amanda L. Dobbyn, Athanassios Douzenis, Torbjørn Elvsåshagen, Valentina Escott-Price, I. Nicol Ferrier, Alessia Fiorentino, Tatiana M. Foroud, Liz Forty, Josef Frank, Oleksandr Frei, Nelson B. Freimer, Louise Frisén, Katrin Gade, Julie Garnham, Joel Gelernter, Marianne Giørtz Pedersen, Ian R. Gizer, Scott D. Gordon, Katherine Gordon-Smith, Tiffany A. Greenwood, Jakob Grove, José Guzman-Parra, Kyooseob Ha, Magnus Haraldsson, Martin Hautzinger, Urs Heilbronner, Dennis Hellgren, Stefan Herms, Per Hoffmann, Peter A. Holmans, Laura Huckins, Stéphane Jamain, Jessica S. Johnson, Janos L. Kalman, Yoichiro Kamatani, James L. Kennedy, Sarah Kittel-Schneider, James A. Knowles, Manolis Kogevinas, Maria Koromina, Thorsten M. Kranz, Henry R. Kranzler, Michiaki Kubo, Ralph Kupka, Steven A. Kushner, Catharina Lavebratt, Jacob Lawrence, Markus Leber, Heon-Jeong Lee, Phil H. Lee, Shawn E. Levy, Catrin Lewis, Calwing Liao, Susanne Lucae, Martin Lundberg, Donald J. MacIntyre, Sigurdur H. Magnusson, Wolfgang Maier, Adam Maihofer, Dolores Malaspina, Eirini Maratou, Lina Martinsson, Manuel Mattheisen, Steven A. McCarroll, Nathaniel W. McGregor, Peter McGuffin, James D. McKay, Helena Medeiros, Sarah E. Medland, Vincent Millischer, Grant W. Montgomery, Jennifer L. Moran, Derek W. Morris, Thomas W. Mühleisen, Niamh O’Brien, Claire O’Donovan, Loes M. Olde Loohuis, Lilijana Oruc, Sergi Papiol, Antonio F. Pardiñas, Amy Perry, Andrea Pfennig, Evgenia Porichi, James B. Potash, Digby Quested, Towfique Raj, Mark H. Rapaport, J. Raymond DePaulo, Eline J. Regeer, John P. Rice, Fabio Rivas, Margarita Rivera, Julian Roth, Panos Roussos, Douglas M. Ruderfer, Cristina Sánchez-Mora, Eva C. Schulte, Fanny Senner, Sally Sharp, Paul D. Shilling, Engilbert Sigurdsson, Lea Sirignano, Claire Slaney, Olav B. Smeland, Daniel J. Smith, Janet L. Sobell, Christine Søholm Hansen, Maria Soler Artigas, Anne T. Spijker, Dan J. Stein, John S. Strauss, Beata Świątkowska, Chikashi Terao, Thorgeir E. Thorgeirsson, Claudio Toma, Paul Tooney, Evangelia-Eirini Tsermpini, Marquis P. Vawter, Helmut Vedder, James T. R. Walters, Stephanie H. Witt, Simon Xi, Wei Xu, Jessica Mei Kay Yang, Allan H. Young, Hannah Young, Peter P. Zandi, Hang Zhou, Lea Zillich, HUNT All-In Psychiatry, Rolf Adolfsson, Ingrid Agartz, Martin Alda, Lars Alfredsson, Gulja Babadjanova, Lena Backlund, Bernhard T. Baune, Frank Bellivier, Susanne Bengesser, Wade H. Berrettini, Douglas H. R. Blackwood, Michael Boehnke, Anders D. Børglum, Gerome Breen, Vaughan J. Carr, Stanley Catts, Aiden Corvin, Nicholas Craddock, Udo Dannlowski, Dimitris Dikeos, Tõnu Esko, Bruno Etain, Panagiotis Ferentinos, Mark Frye, Janice M. Fullerton, Micha Gawlik, Elliot S. Gershon, Fernando S. Goes, Melissa J. Green, Maria Grigoroiu-Serbanescu, Joanna Hauser, Frans Henskens, Jan Hillert, Kyung Sue Hong, David M. Hougaard, Christina M. Hultman, Kristian Hveem, Nakao Iwata, Assen V. Jablensky, Ian Jones, Lisa A. Jones, René S. Kahn, John R. Kelsoe, George Kirov, Mikael Landén, Marion Leboyer, Cathryn M. Lewis, Qingqin S. Li, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Nicholas G. Martin, Carol A. Mathews, Fermin Mayoral, Susan L. McElroy, Andrew M. McIntosh, Francis J. McMahon, Ingrid Melle, Patricia Michie, Lili Milani, Philip B. Mitchell, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bryan Mowry, Bertram Müller-Myhsok, Richard M. Myers, Benjamin M. Neale, Caroline M. Nievergelt, Merete Nordentoft, Markus M. Nöthen, Michael C. O’Donovan, Ketil J. Oedegaard, Tomas Olsson, Michael J. Owen, Sara A. Paciga, Chris Pantelis, Carlos Pato, Michele T. Pato, George P. Patrinos, Roy H. Perlis, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z. Reininghaus, Marta Ribasés, Marcella Rietschel, Stephan Ripke, Guy A. Rouleau, Takeo Saito, Ulrich Schall, Martin Schalling, Peter R. Schofield, Thomas G. Schulze, Laura J. Scott, Rodney J. Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W. Smoller, Hreinn Stefansson, Kari Stefansson, Eystein Stordal, Fabian Streit, Patrick F. Sullivan, Gustavo Turecki, Arne E. Vaaler, Eduard Vieta, John B. Vincent, Irwin D. Waldman, Thomas W. Weickert, Thomas Werge, Naomi R. Wray, John-Anker Zwart, Joanna M. Biernacka, John I. Nurnberger, Sven Cichon, Howard J. Edenberg, Eli A. Stahl, Andrew McQuillin, Arianna Di Florio, Roel A. Ophoff, and Ole A. Andreassen
Subjects: Genetics, 0303 health sciences, Druggability, Genome-wide association study, Biology, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Expression quantitative trait loci, medicine, Bipolar disorder, Synaptic signaling, Prefrontal cortex, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract: Bipolar disorder (BD) is a heritable mental illness with complex etiology. We performed a genome-wide association study (GWAS) of 41,917 BD cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. BD risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating eQTL data implicated 15 genes robustly linked to BD via gene expression, including druggable genes such as HTR6, MCHR1, DCLK3 and FURIN. This GWAS provides the best-powered BD polygenic scores to date, when applied in both European and diverse ancestry samples. Analyses of BD subtypes indicated high but imperfect genetic correlation between BD type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of BD, identify novel therapeutic leads and prioritize genes for functional follow-up studies.
Published: 2020

38. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Author: Niamh, Mullins, Andreas J, Forstner, Kevin S, O'Connell, Brandon, Coombes, Jonathan R I, Coleman, Zhen, Qiao, Thomas D, Als, Tim B, Bigdeli, Sigrid, Børte, Julien, Bryois, Alexander W, Charney, Ole Kristian, Drange, Michael J, Gandal, Saskia P, Hagenaars, Masashi, Ikeda, Nolan, Kamitaki, Minsoo, Kim, Kristi, Krebs, Georgia, Panagiotaropoulou, Brian M, Schilder, Laura G, Sloofman, Stacy, Steinberg, Vassily, Trubetskoy, Bendik S, Winsvold, Hong-Hee, Won, Liliya, Abramova, Kristina, Adorjan, Esben, Agerbo, Mariam, Al Eissa, Diego, Albani, Ney, Alliey-Rodriguez, Adebayo, Anjorin, Verneri, Antilla, Anastasia, Antoniou, Swapnil, Awasthi, Ji Hyun, Baek, Marie, Bækvad-Hansen, Nicholas, Bass, Michael, Bauer, Eva C, Beins, Sarah E, Bergen, Armin, Birner, Carsten, Bøcker Pedersen, Erlend, Bøen, Marco P, Boks, Rosa, Bosch, Murielle, Brum, Ben M, Brumpton, Nathalie, Brunkhorst-Kanaan, Monika, Budde, Jonas, Bybjerg-Grauholm, William, Byerley, Murray, Cairns, Miquel, Casas, Pablo, Cervantes, Toni-Kim, Clarke, Cristiana, Cruceanu, Alfredo, Cuellar-Barboza, Julie, Cunningham, David, Curtis, Piotr M, Czerski, Anders M, Dale, Nina, Dalkner, Friederike S, David, Franziska, Degenhardt, Srdjan, Djurovic, Amanda L, Dobbyn, Athanassios, Douzenis, Torbjørn, Elvsåshagen, Valentina, Escott-Price, I Nicol, Ferrier, Alessia, Fiorentino, Tatiana M, Foroud, Liz, Forty, Josef, Frank, Oleksandr, Frei, Nelson B, Freimer, Louise, Frisén, Katrin, Gade, Julie, Garnham, Joel, Gelernter, Marianne, Giørtz Pedersen, Ian R, Gizer, Scott D, Gordon, Katherine, Gordon-Smith, Tiffany A, Greenwood, Jakob, Grove, José, Guzman-Parra, Kyooseob, Ha, Magnus, Haraldsson, Martin, Hautzinger, Urs, Heilbronner, Dennis, Hellgren, Stefan, Herms, Per, Hoffmann, Peter A, Holmans, Laura, Huckins, Stéphane, Jamain, Jessica S, Johnson, Janos L, Kalman, Yoichiro, Kamatani, James L, Kennedy, Sarah, Kittel-Schneider, James A, Knowles, Manolis, Kogevinas, Maria, Koromina, Thorsten M, Kranz, Henry R, Kranzler, Michiaki, Kubo, Ralph, Kupka, Steven A, Kushner, Catharina, Lavebratt, Jacob, Lawrence, Markus, Leber, Heon-Jeong, Lee, Phil H, Lee, Shawn E, Levy, Catrin, Lewis, Calwing, Liao, Susanne, Lucae, Martin, Lundberg, Donald J, MacIntyre, Sigurdur H, Magnusson, Wolfgang, Maier, Adam, Maihofer, Dolores, Malaspina, Eirini, Maratou, Lina, Martinsson, Manuel, Mattheisen, Steven A, McCarroll, Nathaniel W, McGregor, Peter, McGuffin, James D, McKay, Helena, Medeiros, Sarah E, Medland, Vincent, Millischer, Grant W, Montgomery, Jennifer L, Moran, Derek W, Morris, Thomas W, Mühleisen, Niamh, O'Brien, Claire, O'Donovan, Loes M, Olde Loohuis, Lilijana, Oruc, Sergi, Papiol, Antonio F, Pardiñas, Amy, Perry, Andrea, Pfennig, Evgenia, Porichi, James B, Potash, Digby, Quested, Towfique, Raj, Mark H, Rapaport, J Raymond, DePaulo, Eline J, Regeer, John P, Rice, Fabio, Rivas, Margarita, Rivera, Julian, Roth, Panos, Roussos, Douglas M, Ruderfer, Cristina, Sánchez-Mora, Eva C, Schulte, Fanny, Senner, Sally, Sharp, Paul D, Shilling, Engilbert, Sigurdsson, Lea, Sirignano, Claire, Slaney, Olav B, Smeland, Daniel J, Smith, Janet L, Sobell, Christine, Søholm Hansen, Maria, Soler Artigas, Anne T, Spijker, Dan J, Stein, John S, Strauss, Beata, Świątkowska, Chikashi, Terao, Thorgeir E, Thorgeirsson, Claudio, Toma, Paul, Tooney, Evangelia-Eirini, Tsermpini, Marquis P, Vawter, Helmut, Vedder, James T R, Walters, Stephanie H, Witt, Simon, Xi, Wei, Xu, Jessica Mei Kay, Yang, Allan H, Young, Hannah, Young, Peter P, Zandi, Hang, Zhou, Lea, Zillich, Rolf, Adolfsson, Ingrid, Agartz, Martin, Alda, Lars, Alfredsson, Gulja, Babadjanova, Lena, Backlund, Bernhard T, Baune, Frank, Bellivier, Susanne, Bengesser, Wade H, Berrettini, Douglas H R, Blackwood, Michael, Boehnke, Anders D, Børglum, Gerome, Breen, Vaughan J, Carr, Stanley, Catts, Aiden, Corvin, Nicholas, Craddock, Udo, Dannlowski, Dimitris, Dikeos, Tõnu, Esko, Bruno, Etain, Panagiotis, Ferentinos, Mark, Frye, Janice M, Fullerton, Micha, Gawlik, Elliot S, Gershon, Fernando S, Goes, Melissa J, Green, Maria, Grigoroiu-Serbanescu, Joanna, Hauser, Frans, Henskens, Jan, Hillert, Kyung Sue, Hong, David M, Hougaard, Christina M, Hultman, Kristian, Hveem, Nakao, Iwata, Assen V, Jablensky, Ian, Jones, Lisa A, Jones, René S, Kahn, John R, Kelsoe, George, Kirov, Mikael, Landén, Marion, Leboyer, Cathryn M, Lewis, Qingqin S, Li, Jolanta, Lissowska, Christine, Lochner, Carmel, Loughland, Nicholas G, Martin, Carol A, Mathews, Fermin, Mayoral, Susan L, McElroy, Andrew M, McIntosh, Francis J, McMahon, Ingrid, Melle, Patricia, Michie, Lili, Milani, Philip B, Mitchell, Gunnar, Morken, Ole, Mors, Preben Bo, Mortensen, Bryan, Mowry, Bertram, Müller-Myhsok, Richard M, Myers, Benjamin M, Neale, Caroline M, Nievergelt, Merete, Nordentoft, Markus M, Nöthen, Michael C, O'Donovan, Ketil J, Oedegaard, Tomas, Olsson, Michael J, Owen, Sara A, Paciga, Chris, Pantelis, Carlos, Pato, Michele T, Pato, George P, Patrinos, Roy H, Perlis, Danielle, Posthuma, Josep Antoni, Ramos-Quiroga, Andreas, Reif, Eva Z, Reininghaus, Marta, Ribasés, Marcella, Rietschel, Stephan, Ripke, Guy A, Rouleau, Takeo, Saito, Ulrich, Schall, Martin, Schalling, Peter R, Schofield, Thomas G, Schulze, Laura J, Scott, Rodney J, Scott, Alessandro, Serretti, Cynthia, Shannon Weickert, Jordan W, Smoller, Hreinn, Stefansson, Kari, Stefansson, Eystein, Stordal, Fabian, Streit, Patrick F, Sullivan, Gustavo, Turecki, Arne E, Vaaler, Eduard, Vieta, John B, Vincent, Irwin D, Waldman, Thomas W, Weickert, Thomas, Werge, Naomi R, Wray, John-Anker, Zwart, Joanna M, Biernacka, John I, Nurnberger, Sven, Cichon, Howard J, Edenberg, Eli A, Stahl, Andrew, McQuillin, Arianna, Di Florio, Roel A, Ophoff, and Ole A, Andreassen
Subjects: Major Histocompatibility Complex, Multifactorial Inheritance, Bipolar Disorder, Phenotype, Genome, Human, Risk Factors, Case-Control Studies, Quantitative Trait Loci, Chromosomes, Human, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study
Abstract: Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies.
Published: 2020

39. Long-term epidemiological observation of asbestos-related diseases in Poland, 1970–2015

Author: Neonila Szeszenia-Dąbrowska and Beata Świątkowska
Subjects: Male, Mesothelioma, medicine.medical_specialty, Medical surveillance, Lung Neoplasms, Asbestosis, medicine.disease_cause, Asbestos, Occupational safety and health, 03 medical and health sciences, 0302 clinical medicine, Occupational Exposure, Environmental health, medicine, Humans, 030212 general & internal medicine, Asbestos-related diseases, business.industry, Incidence (epidemiology), Public health, Mesothelioma, Malignant, Public Health, Environmental and Occupational Health, Pleural Diseases, medicine.disease, 030210 environmental & occupational health, Occupational Diseases, Population Surveillance, Female, Poland, business
Abstract: Background Occupational exposure to asbestos constitutes a major public health concern. Despite this in many countries, data and registration systems for occupational asbestos-related diseases are non-existent or poorly developed. Aims To analyse the incidence of occupational asbestos-related diseases in Poland between the years 1970 and 2015, with particular emphasis on the periods after introduction of a ban on asbestos and following introduction of a surveillance programme. Methods Analysis based on all medically recognized cases, certified as occupational diseases and reported obligatorily from all over the country to the Central Register of Occupational Diseases. Results During the period 1970-2015, 4983 cases were reported as asbestos-related diseases. The most prevalent were asbestosis, lung cancer, diseases of pleura or pericardium and mesothelioma. A considerable increase in the number of such cases from the beginning of their registration until 2004 occurred after introduction of the Amiantus programme, a nationwide programme of periodic medical examinations for former asbestos workers. Conclusions Introduction of a medical surveillance programme improved case recognition and allowed a more reliable estimate of the number of reported asbestos-related diseases.
Published: 2017

40. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author: Leila Karhunen, Geòrgia Escaramís, Ingrid Meulenbelt, Yiran Guo, Matteo Cassina, Stephan Ripke, Alessandro Rotondo, Harry Brandt, Nicholas G. Martin, Andreas Birgegård, Cynthia M. Bulik, Sietske G. Helder, Julie K. O'Toole, Martien J H Kas, Julien Bryois, Nancy L. Pedersen, Philippe Courtet, Virpi M. Leppä, Konstantinos Hatzikotoulas, Liselotte Petersen, Paola Giusti-Rodríguez, André Scherag, Roger A.H. Adan, George Dedoussis, Laramie E. Duncan, John F. Pearson, Helena Gaspar, Andrew W. Bergen, Jurjen J. Luykx, Paul Lichtenstein, Jin P. Szatkiewicz, Lisa R. Lilenfeld, James L. Kennedy, Sébastien Guillaume, Angela Favaro, Artemis Tsitsika, Sara Marsal, Tõnu Esko, Joseph M. Boden, Janiece E. DeSocio, Stefan Ehrlich, Michael Strober, Laura M. Huckins, Alexandra Schosser, Katherine M. Kirk, Gun Peggy Knudsen, Dalila Pinto, Garret D. Stuber, Nicolas Ramoz, Dimitris Dikeos, Jochen Seitz, Stephanie Zerwas, Jolanta Lissowska, Jacques Pantel, Palmiero Monteleone, Katherine A. Halmi, Alessio Maria Monteleone, Scott D. Gordon, Ulrike Schmidt, Franziska Ritschel, Ted Reichborn-Kjennerud, Jennifer Jordan, Ina Giegling, Grant W. Montgomery, Morten Mattingsdal, Esther Walton, Andreas Karwautz, Federica Tozzi, Marion Roberts, Vladimir Janout, P. Eline Slagboom, Laura M. Thornton, Hana Papezova, Mikael Landén, Deborah Kaminská, Robert D. Levitan, Daniela Degortes, Manuel Föcker, Kirsty Kiezebrink, Wolfgang Herzog, Katharina Buehren, Benedetta Nacmias, Christopher Hübel, Eleftheria Zeggini, L. John Horwood, Maria La Via, Claes Norring, Karin Egberts, Nadia Micali, Filip Rybakowski, Monica Forzan, Katrin Männik, Konstantinos Tziouvas, Ioanna Tachmazidou, Thomas Werge, Tracey D. Wade, Raquel Rabionet, Scott J. Crow, Antonio Julià, Jonathan R. I. Coleman, Susana Jiménez-Murcia, Claudette Boni, Roland Burghardt, Christopher S. Franklin, Alfonso Tortorella, Fragiskos Gonidakis, Ioanna Ntalla, Anke Hinney, Jaakko Kaprio, Lenka Slachtova, Anu Raevuori, Sandro Sorbi, Richard Parker, Johanna Giuranna, Kirstin L. Purves, Stephan Zipfel, James J. Crowley, Hidetoshi Inoko, Janet Treasure, Shuyang Yao, Leonid Padyukov, Youl-Ri Kim, Monica Gratacos Mayora, Joanna Hauser, Manfred M. Fichter, Samuli Ripatti, Zeynep Yilmaz, Stephanie Le Hellard, Bochao Danae Lin, Wade H. Berrettini, Gursharan Kalsi, Anders Juréus, Oliver S. P. Davis, Ilka Boehm, Lars Klareskog, Lenka Foretova, Ken B. Hanscombe, Janne Tidselbak Larsen, Hunna J. Watson, Beate Herpertz-Dahlmann, Krista Fischer, Xavier Estivill, Vesna Boraska Perica, Karen S. Mitchell, Andreas J. Forstner, Stefan Herms, Eric F. van Furth, Kelly L. Klump, Anjali K. Henders, Fernando Fernández-Aranda, David C. Whiteman, Catherine M. Olsen, James E. Mitchell, Martina de Zwaan, Johannes Hebebrand, Manuel Mattheisen, Anne Farmer, Agnieszka Słopień, Christian Dina, Dong Li, Marie Navratilova, Sarah E. Medland, Steven Crawford, Elisa Docampo, Craig Johnson, Tetsuya Ando, Elena Tenconi, Roger D. Cone, Sara McDevitt, Allan S. Kaplan, Patrick F. Sullivan, Paolo Santonastaso, Gudrun Wagner, James I. Hudson, Mario Maj, Margarita C T Slof-Op 't Landt, Anna Keski-Rahkonen, Annemarie A. van Elburg, Marta Tyszkiewicz-Nwafor, Danielle M. Dick, Beata Świątkowska, Sven Cichon, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Stephen W. Scherer, Maurizio Clementi, Valdo Ricca, D. Blake Woodside, Roel A. Ophoff, Unna N. Danner, Aarno Palotie, Elisabeth Widen, Nicholas J. Schork, Jakob Grove, Philip Gorwood, Christian R. Marshall, Preben Bo Mortensen, Melissa A. Munn-Chernoff, Hakon Hakonarson, Martin A. Kennedy, Dan Rujescu, Gerome Breen, Lars Alfredsson, Hartmut Imgart, Steven Gallinger, Ole A. Andreassen, Monika Dmitrzak-Weglarz, Pierre J. Magistretti, Andres Metspalu, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], Department of Psychiatry [Philadelphia], University of Pennsylvania [Philadelphia], Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Azienda Ospedaliera di Padova, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Athens Medical School [Athens], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), The Institute of Psychiatry-King‘s College London, Department of Psychiatry (IDIBELL), CIBERobn Fisiopatología de la Obesidad y Nutrición-University Hospital of Bellvitge, Masaryk Memorial Cancer Institute and Medical Faculty of Masaryk University, Universitätsklinikum Bonn (UKB), National and Kapodistrian University of Athens (NKUA), The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP ), Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinikum Essen, Universität Duisburg-Essen [Essen], Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Tokai University, Department of Optics [Univ Palacký], Faculty of Science [Univ Palacký], Palacky University Olomouc-Palacky University Olomouc, Vall d'Hebron University Hospital [Barcelona], National Institute for Health and Welfare [Helsinki], Medizinische Universität Wien = Medical University of Vienna, University of Helsinki, Rheumatology Unit, Karolinska Institutet [Stockholm], University of Bergen (UiB), The M Sklodowska-Curie Cancer Center and Institute of Oncology, Università degli studi della Campania 'Luigi Vanvitelli', Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, Estonian Genome and Medicine, University of Tartu, Section Molecular Epidemiology, Leiden University Medical Center (LUMC), Institute of Psychiatry, King's College, Università degli Studi di Salerno (UNISA), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Masaryk Memorial Cancer Institute (RECAMO), Department of Psychiatry, University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Vanderbilt University School of Medicine [Nashville], Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm - Paris Descartes), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Charles University [Prague] (CU), Norwegian Institute of Public Health [Oslo] (NIPH), Department of Medical Epidemiology and Biostatistics (MEB), Medstar Research Institute, Institute of Medical Informatics, Biometry and Epidemiology, The Scripps Translational Science Institute and The Scripps Research Institute, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University-Medical Research Council, Molecular Epidemiology, The Jackson Laboratory [Bar Harbor] (JAX), Università degli Studi di Perugia (UNIPG), Neurosciences Centre of Excellence in Drug Discovery, GlaxoSmithKline Research and Development, Utrecht University [Utrecht], Human Genetics, The Wellcome Trust Sanger Institute [Cambridge], Oregon Research Institute (ORI), Weill Medical College of Cornell University [New York], Institute for Marine and Antarctic Studies [Horbat] (IMAS), University of Tasmania [Hobart, Australia] (UTAS), University of California [San Diego] (UC San Diego), University of California, QIMR Berghofer Medical Research Institute, Department of Physics and Astronomy [Leicester], University of Leicester, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Center for Genomic Medicine, Copenhagen University Hospital-Rigshospitalet [Copenhagen], Copenhagen University Hospital, Aarhus University [Aarhus], Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Department of Chemistry, University of Cambridge, Cambridge CB2 1EW, U.K, National Centre for Register-based Research, School of Computing [Dublin], Dublin City University [Dublin] (DCU), Department of medicine [Stockholm], Karolinska Institutet [Stockholm]-Karolinska University Hospital [Stockholm], Queensland Institute of Medical Research, Department of Genomics, Leiden University Medical Center (LUMC), Watson, H. J., Yilmaz, Z., Thornton, L. M., Hubel, C., Coleman, J. R. I., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Medland, S. E., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Purves, K. L., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Baker, J. H., Berrettini, W. H., Boehm, I., Boni, C., Perica, V. B., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M. M., Fischer, K., Focker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Mayora, M. G., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Julia, A., Kalsi, G., Kaminska, D., Kaprio, J., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Klareskog, L., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Levitan, R. D., Li, D., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P. J., Maj, M., Mannik, K., Marsal, S., Marshall, C. R., Mattingsdal, M., Mcdevitt, S., Mcguffin, P., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, K., Monteleone, A. M., Monteleone, P., Munn-Chernoff, M. A., Nacmias, B., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op 't Landt, M. C. T., Slopien, A., Sorbi, S., Swiatkowska, B., Szatkiewicz, J. P., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Walton, E., Widen, E., Zeggini, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J. E., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Stuber, G. D., Gordon, S., Grove, J., Henders, A. K., Jureus, A., Kirk, K. M., Larsen, J. T., Parker, R., Petersen, L., Jordan, J., Kennedy, M., Montgomery, G. W., Wade, T. D., Birgegard, A., Lichtenstein, P., Norring, C., Landen, M., Martin, N. G., Mortensen, P. B., Sullivan, P. F., Breen, G., Bulik, C. M., and Kas lab
Subjects: Male, Anorexia Nervosa, LD SCORE REGRESSION, Medizin, Genome-wide association study, MYC, VARIANTS, Body Mass Index, ddc:616.89, 0302 clinical medicine, POLYGENIC RISK, genetics, molecular biology, anorexia nervosa, Anorexia Nervosa/etiology/genetics/pathology, 0303 health sciences, Metabolic Diseases/complications/genetics, HERITABILITY, Mental Disorders, Anorèxia nerviosa, Genomics, metabo-psychiatric origins, Prognosis, 3. Good health, PREVALENCE, Eating disorders, INSIGHTS, Phenotype, Anorexia nervosa (differential diagnoses), Medical genetics, Female, GENETIC CORRELATIONS, Adult, medicine.medical_specialty, Quantitative Trait Loci, Biology, Article, 03 medical and health sciences, Metabolic Diseases, mental disorders, medicine, Genetics, Journal Article, Humans, Genetic Predisposition to Disease, Psychiatry, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Case-control study, EATING-DISORDERS, Anorexia nervosa, medicine.disease, Comorbidity, Genetic architecture, Genomics/methods, Genòmica, Case-Control Studies, Mental Disorders/complications/genetics, COMORBIDITY, Body mass index, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness 1, affecting 0.9–4% of women and 0.3% of men 2–4, with twin-based heritability estimates of 50–60% 5. Mortality rates are higher than those in other psychiatric disorders 6, and outcomes are unacceptably poor 7. Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI) 8,9 and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
Published: 2019

41. Sex specific associations in genome wide association analysis of renal cell carcinoma

Author: Lenka Foretova, Peng Li, Jean-François Deleuze, Rosamonde E. Banks, Ghislaine Scelo, Christopher G. Wood, Florence Le Calvez-Kelm, Mattias Johansson, Beata Świątkowska, Elio Riboli, Kevin M. Brown, Roger L. Milne, David Petillo, Fiona Bruinsma, Eunyoung Cho, Wong Ho Chow, Anne Boland, David C. Muller, Konstantin G. Skryabin, Börje Ljungberg, Hallie Carol, Demetrius Albanes, Loren Lipworth, Lisa Johnson, Gianluca Severi, Stephen J. Chanock, Slavisa Savic, Jolanta Lissowska, David Zaridze, Olivier Cussenot, Graham G. Giles, Garnet L. Anderson, Richard J. Kahnoski, Paul Brennan, Sabrina L. Noyes, Ulrike Peters, Behnoush Abedi-Ardekani, Howard D. Sesso, Bin Tean Teh, Peter Rudnai, Yuanqing Ye, Peter Kraft, Tony Fletcher, Geoffroy Durand, Douglas F. Easton, Ivana Holcatova, Eleonora Fabianova, Laura E. Beane Freeman, Xifeng Wu, Antonia Trichopoulou, James McKay, Peter Selby, Amanda Black, Marie Navratilova, Kathryn M. Wilson, Kim Overvad, J. Michael Gaziano, Toni K. Choueiri, Matthew L. Freedman, Mark P. Purdue, Matthieu Foll, Geraldine Cancel-Tassin, Sanja Radojevic-Skodric, Egor Prokhortchouk, Vladimir Janout, Gabriella Andreotti, Nivonirina Robinot, Nathaniel Rothman, Laurie Burdett, Todd L. Edwards, John Anema, Stefan Rascu, Leandro M. Colli, Dana Mates, Mark A. Preston, Viorel Jinga, Brian R. Lane, Lee E. Moore, Emily White, Delphine Bacq-Daian, Jan Lubinski, Raviprakash T. Sitaram, Simone Benhamou, Kvetoslava Koppova, Peter E. Clark, Mark Pomerantz, Mark Lathrop, Joshua N. Sampson, Wen Yi Huang, Mitchell J. Machiela, Jonathan N. Hofmann, Cezary Cybulski, Ruhina Shirin Laskar, Satu Männistö, Meredith Yeager, Zhaoming Wang, Valerie Gaborieau, Paul D.P. Pharoah, Stephanie J. Weinstein, Juhua Luo, Anush Mukeria, Stella Koutros, Salvatore Panico, Susanna C. Larsson, Alicja Wolk, Neal D. Freedman, Hélène Blanché, Vladimir Bencko, Cancer Research UK, Muller, David C [0000-0002-2350-0417], Li, Peng [0000-0002-0682-9819], Ye, Yuanqing [0000-0001-5708-8961], Holcatova, Ivana [0000-0002-1366-0337], Cancel-Tassin, Geraldine [0000-0002-9583-6382], Ljungberg, Borje [0000-0002-4121-3753], Milne, Roger L [0000-0001-5764-7268], Larsson, Susanna C [0000-0003-0118-0341], Banks, Rosamonde E [0000-0002-0042-8715], Selby, Peter J [0000-0002-3782-069X], Easton, Douglas F [0000-0003-2444-3247], Pharoah, Paul [0000-0001-8494-732X], Huang, Wen-Yi [0000-0002-4440-3368], Chanock, Stephen J [0000-0002-2324-3393], and Apollo - University of Cambridge Repository
Subjects: Oncology, Male, medicine.medical_specialty, Biochemistry & Molecular Biology, Quantitative Trait Loci, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, Sex Factors, Renal cell carcinoma, Internal medicine, Genetic variation, Genetics, medicine, Genetic predisposition, Odds Ratio, Humans, Genetic Predisposition to Disease, SUSCEPTIBILITY LOCUS, Carcinoma, Renal Cell, Genetics (clinical), Genetic association, Genetics & Heredity, 0604 Genetics, Science & Technology, Incidence (epidemiology), Computational Biology, Odds ratio, medicine.disease, CANCER, Kidney Neoplasms, Female, Life Sciences & Biomedicine, Sex ratio, Genome-Wide Association Study
Abstract: Renal cell carcinoma (RCC) has an undisputed genetic component and a stable 2:1 male to female sex ratio in its incidence across populations, suggesting possible sexual dimorphism in its genetic susceptibility. We conducted the first sex-specific genome-wide association analysis of RCC for men (3227 cases, 4916 controls) and women (1992 cases, 3095 controls) of European ancestry from two RCC genome-wide scans and replicated the top findings using an additional series of men (2261 cases, 5852 controls) and women (1399 cases, 1575 controls) from two independent cohorts of European origin. Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). We also identified two additional suggestive male-specific loci at 6q24.3 (SAMD5, male odds ratio (OR(male)) = 0.83 [95% CI = 0.78-0.89], P(male) = 1.71 × 10(−8) compared with female odds ratio (OR(female)) = 0.98 [95% CI = 0.90–1.07], P(female) = 0.68) and 12q23.3 (intergenic, OR(male) = 0.75 [95% CI = 0.68-0.83], P(male) = 1.59 × 10(−8) compared with OR(female) = 0.93 [95% CI = 0.82–1.06], P(female) = 0.21) that attained genome-wide significance in the joint meta-analysis. Herein, we provide evidence of sex-specific associations in RCC genetic susceptibility and advocate the necessity of larger genetic and genomic studies to unravel the endogenous causes of sex bias in sexually dimorphic traits and diseases like RCC.
Published: 2019

42. The use of mesenchymal stem cells for the treatment of progressive retinal diseases: a review

Author: Agnieszka Borkowska-Kuczkowska, Dominika Sługocka, Beata Świątkowska-Flis, and Dariusz Boruczkowski
Subjects: Retinal degeneration, Embryology, Pathology, medicine.medical_specialty, genetic structures, medicine.medical_treatment, 0206 medical engineering, Biomedical Engineering, 02 engineering and technology, Mesenchymal Stem Cell Transplantation, Retinal ganglion, 03 medical and health sciences, chemistry.chemical_compound, Retinal Diseases, medicine, Animals, Humans, 030304 developmental biology, 0303 health sciences, Clinical Trials as Topic, Retinal vasculitis, business.industry, Mesenchymal stem cell, Retinal, Mesenchymal Stem Cells, Stem-cell therapy, Macular degeneration, medicine.disease, 020601 biomedical engineering, eye diseases, Neuroprotection, Stargardt disease, chemistry, Disease Progression, business
Abstract: Some ocular diseases, such as dystrophies, retinal and macular degeneration, optic nerve atrophy, and Stargardt disease, are progressive and irreversible. In this review, we focus on the use of mesenchymal stem cells (MSCs) in the treatment of these diseases. In animal studies, MSC transplantation significantly delayed retinal degeneration, led to the regeneration of cone cells, and supported the survival of retinal ganglion cells and axon regeneration. In clinical practice, patients with Behcet's disease with retinal vasculitis who received MSC injections experienced a decrease in retinal vasculitis but no improvement in vision acuity. Nonetheless, there is no evidence that MSCs are carcinogenic, and they even reduce the size of tumors in vitro. Furthermore, MSCs do not trigger the immune response.
Published: 2019

43. [Occupational diseases in Poland in 2016]

Author: Wojciech Hanke, Beata Świątkowska, and Nofer Institute of Occupational Medicine
Subjects: Male, medicine.medical_specialty, Hearing loss, 0211 other engineering and technologies, 02 engineering and technology, registry, Infections, epidemiological situation, Age and gender, 03 medical and health sciences, 0302 clinical medicine, Environmental health, Epidemiology, Health care, medicine, Humans, duration of exposure, Registries, Hearing Loss, 021110 strategic, defence & security studies, Voice Disorders, business.industry, lcsh:Public aspects of medicine, Pneumoconiosis, Incidence (epidemiology), Incidence, Public Health, Environmental and Occupational Health, lcsh:RA1-1270, General Medicine, medicine.disease, 030210 environmental & occupational health, causative factors, Occupational Diseases, occupational diseases, Female, Poland, medicine.symptom, business
Abstract: The aim of the work is to present the epidemiological situation in the field of occupational diseases in Poland in 2016. The cases of occupational diseases identified in accordance with the applicable case law system in Poland and reported to the Central Register of Occupational Diseases in 2016 were analyzed. The analysis includes nosologic units, their causative factors as well as gender and age of patients. Absolute numbers and incidence rates per 100 000 employees were presented. In 2016, 2119 cases of occupational diseases were recorded in Poland, i.e. 14.3 cases per 100 000 employed persons. The incidence rate was mainly caused by pneumoconioses (28.5%), infectious or parasitic diseases (27.2%), chronic voice disorders (9.7%), chronic diseases of the peripheral nervous system (8.6%) and hearing loss (6.3%). The highest incidence was recorded in the mining and quarrying (329.7 cases), agriculture and forestry (23.8 cases), manufacturing (20 cases) and education (17.9 cases) and healthcare and social work activities (17.7 cases). In comparison with 2015, there was an increase in the number of cases of occupational diseases by 1.2%, which was influenced mainly by a larger (by 181 cases) number of pneumoconiosis. The epidemiological situation resulting from occupational diseases in our country, although it covers all identified cases, should be assessed with caution because the suspicion arises underestimation of certain diseases, especially cancer. Med Pr 2018;69(6):643-650. Celem pracy jest przedstawienie sytuacji epidemiologicznej w zakresie chorób zawodowych w Polsce w 2016 r. Materiał i metody: Przeanalizowano przypadki chorób zawodowych stwierdzonych zgodnie z obowiązującym w Polsce systemem orzeczniczym i obligatoryjnie zgłaszanych do centralnego Rejestru Chorób Zawodowych w 2016 r. W przeglądzie uwzględniono m.in. jednostki chorobowe, ich przyczyny, a także płeć i wiek chorych. Przedstawiono liczby bezwzględne i współczynniki zapadalności na 100 tys. pracujących. Wyniki: W 2016 r. stwierdzono w Polsce 2119 przypadków chorób zawodowych, tj. 14,3 przypadków na 100 tys. pracujących. Zachorowalność ogólną kształtowały głównie pylice płuc (28,5%), choroby zakaźne lub pasożytnicze (27,2%), przewlekłe choroby narządu głosu (9,7%), przewlekłe choroby obwodowego układu nerwowego (8,6%) i ubytek słuchu (6,3%). Najwyższą zapadalność na 100 tys. pracujących odnotowano w górnictwie (329,7 przypadków), rolnictwie i leśnictwie (21,9 przypadków), przetwórstwie przemysłowym (20 przypadków), edukacji (17,9 przypadków) oraz opiece zdrowotnej i pomocy społecznej (17,7 przypadków). Wnioski: W porównaniu z rokiem 2015 nastąpił wzrost liczby przypadków chorób zawodowych o 1,2%, na co wpłynęła głównie większa – o 181 przypadków – liczba pylic płuc. Sytuacja epidemiologiczna wynikająca z zapadalności na choroby zawodowe w naszym kraju, chociaż obejmuje wszystkie stwierdzone przypadki, powinna być oceniana ostrożnie, gdyż nasuwa podejrzenie niedoszacowania niektórych chorób, szczególnie nowotworów.
Published: 2018

44. Survival and prognostic factors of early‐stage non‐small cell lung cancer in Central and Eastern Europe: A prospective cohort study

Author: Mahdi Sheikh, Shama Virani, Hilary A. Robbins, Lenka Foretova, Ivana Holcatova, Vladimir Janout, Jolanta Lissowska, Marie Navratilova, Anush Mukeriya, Miodrag Ognjanovic, Beata Swiatkowska, David Zaridze, and Paul Brennan
Subjects: alcohol, death, mortality, neoplasm, smoking, tobacco, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Abstract Background Although early diagnosis and surgical resection of the tumor have been shown to be the most important predictors of lung cancer survival, long‐term survival for surgically‐resected early‐stage lung cancer remains poor. Aims In this prospective study we aimed to investigate the survival and prognostic factors of surgically‐resected early‐stage non‐small cell lung cancer (NSCLC) in Central and Eastern Europe. Methods We recruited 2052 patients with stage I‐IIIA NSCLC from 9 centers in Russia, Poland, Serbia, Czech Republic, and Romania, between 2007–2016 and followed them annually through 2020. Results During follow‐up, there were 1121 deaths (including 730 cancer‐specific deaths). Median survival time was 4.9 years, and the 5‐year overall survival was 49.5%. In the multivariable model, mortality was increased among older individuals (HR for each 10‐year increase: 1.31 [95% CI: 1.21–1.42]), males (HR:1.24 [1.04–1.49]), participants with significant weight loss (HR:1.25 [1.03–1.52]), current smokers (HR:1.30 [1.04–1.62]), alcohol drinkers (HR:1.22 [1.03–1.44]), and those with higher stage tumors (HR stage IIIA vs. I: 5.54 [4.10 – 7.48]). However, education, chronic obstructive pulmonary diseases (COPD), and tumor histology were not associated with risk of death. All baseline indicators of smoking and alcohol drinking showed a dose‐dependent association with the risk of cancer‐specific mortality. This included pack‐years of cigarettes smoked (p‐trend = 0.04), quantity of smoking (p‐trend = 0.008), years of smoking (p‐trend = 0.010), gram‐days of alcohol drank (p‐trend = 0.002), frequency of drinking (p‐trend = 0.006), and years of drinking (p‐trend = 0.016). Conclusion This study shows that the 5‐year survival rate of surgically‐resected stage I‐IIIA NSCLC is still around 50% in Central and Eastern Europe. In addition to non‐modifiable prognostic factors, lifetime patterns of smoking and alcohol drinking affected the risk of death and disease progression in a dose‐dependent manner in this population.
Published: 2023
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45. Medical monitoring of asbestos-exposed workers: experience from Poland

Author: Neonila Szeszenia-Dąbrowska, Urszula Wilczyńska, and Beata Świątkowska
Subjects: 030231 tropical medicine, Health impact, Asbestosis, medicine.disease_cause, Health Services Accessibility, Asbestos, 03 medical and health sciences, 0302 clinical medicine, Occupational Exposure, Environmental health, medicine, Humans, Mesothelioma, Early Detection of Cancer, Estimation, business.industry, Public Health, Environmental and Occupational Health, Free access, medicine.disease, 030210 environmental & occupational health, Occupational Diseases, Policy & Practice, Poland, Occupational exposure, business
Abstract: In Poland, the use of asbestos was banned in 1997 and asbestos plants have been closed since then. Despite their closure, cases of asbestos-related occupational diseases among former asbestos workers are still being recorded in the Central Register of Occupational Diseases. Between 2001 and 2014, there were 2726 asbestos-related illnesses, classified and reported as diseases associated with occupational exposure to asbestos. In 2000, Poland introduced a programme called Amiantus, targeted at former asbestos-processing plant workers. The programme provided periodic medical examinations to workers and free access to medications for treatment of asbestos-related illnesses. Introduction of the programme provided additional data to generate a reliable estimation of the number of asbestos-related occupational diseases, including cancer. The average latency period for asbestosis, lung cancer and mesothelioma is about 40 years so there may still be some health impact to former workers necessitating follow-up. We present the Polish experience of implementing a medical examination programme for asbestos-exposed workers and provide a list of activities to consider when planning for such a programme.En Pologne, l'utilisation de l'amiante a été interdite en 1997 et depuis, les usines d'amiante ont été fermées. Malgré leur fermeture, des cas de maladies professionnelles liées à l'amiante chez les anciens travailleurs de l'amiante continuent d'être enregistrés dans le Registre central des maladies professionnelles. Entre 2001 et 2014, 2726 maladies liées à l'amiante ont été classifiées et consignées dans la catégorie des maladies associées à une exposition professionnelle à l'amiante. En 2000, la Pologne a mis en œuvre un programme appeléEn Polonia, el uso del amianto se prohibió en 1997 y, desde entonces, las plantas de tratamiento del amianto están cerradas. A pesar de su cierre, siguen registrándose casos de enfermedades laborales relacionadas con el amianto entre los antiguos trabajadores de este material. Entre 2001 y 2014, se detectaron 2 726 casos de enfermedades relacionadas con el amianto, clasificadas y registradas como enfermedades asociadas a la exposición laboral al amianto en el registro central de enfermedades laborales. En el año 2000, Polonia presentó un programa tituladoتم حظر الأسبستوس في بولندا في عام 1997 كما خضعت منشآت تصنيع المنتجات من الأسبستوس إلى الإغلاق منذ ذلك الحين. وبالرغم من إغلاق تلك المنشآت، ما زال يشهد السجل المركزي للأمراض المهنية تسجيلات لحالات من الإصابة بأمراض مهنية تتعلق بالأسبستوس لدى العاملين الذين سبق لهم العمل في تصنيع المنتجات من الأسبستوس. وظهرت في الفترة بين عامي 2001 و2014 أمراض تتعلق بالأسبستوس بلغ عددها 2726، حيث تم تصنيفها والإبلاغ بها كأمراض ترتبط بالتعرض إلى الأسبستوس بسبب طبيعة المهنة. وطرحت بولندا في عام 2000 برنامجًا باسم波兰于 1997 年禁止使用石棉，并随之关闭了石棉厂。尽管关闭了石棉厂，但是根据职业病登记中心的记载，前石棉厂工人中仍有人出现石棉相关职业病。在 2001 到 2014 年间，共有 2726 例石棉相关疾病被归类为和列为职业性接触石棉相关疾病。 2000 年，波兰针对前石棉加工厂工人推出了一项名为В Польше применение асбеста было запрещено в 1997 году, и с тех пор предприятия, работающие с асбестом, закрыты. Несмотря на прекращение их деятельности, в Центральном реестре профессиональных заболеваний по-прежнему регистрируются случаи заболеваний, связанных с асбестом, среди бывших работников предприятий асбестовой промышленности. За период между 2001 и 2014 годами 2726 случаев болезней, связанных с асбестом, были классифицированы и зарегистрированы как болезни, связанные с воздействием асбеста на рабочем месте. В 2000 году Польша предложила программу под названием Amiantus, предназначенную для бывших работников асбестообрабатывающих предприятий. Для работников программа предусматривала периодическое медицинское наблюдение и свободный доступ к лекарственным препаратам для лечения болезней, связанных с асбестом. В результате внедрения программы были получены дополнительные данные, с помощью которых была дана достоверная оценка заболеваемости профессиональными болезнями, связанными с асбестом, в том числе раком. В среднем латентный период асбестоза, рака легких и мезотелиомы составляет приблизительно 40 лет, поэтому негативное воздействие на здоровье бывших работников по-прежнему не исключено и им требуется последующее врачебное наблюдение. Авторы описывают опыт Польши в плане реализации программы медицинского наблюдения для работников, подвергавшихся воздействию асбеста, и перечисляют мероприятия, которые необходимо учесть при разработке такой программы.
Published: 2016

46. Comment on Małgorzata Krówczyńska and Ewa Wilk. Environmental and Occupational Exposure to Asbestos as a Result of Consumption and Use in Poland. Int. J. Environ. Res. Public Health 2019, 16, 2611

Author: Wojciech Hanke and Beata Świątkowska
Subjects: Consumption (economics), medicine.medical_specialty, business.industry, Health, Toxicology and Mutagenesis, Public health, lcsh:R, Public Health, Environmental and Occupational Health, lcsh:Medicine, medicine.disease_cause, Asbestos, n/a, Environmental health, medicine, Occupational exposure, business
Abstract: Krówczyńska M [...]
Published: 2020

47. Effect of Occupational Exposures on Lung Cancer Susceptibility: A Study of Gene–Environment Interaction Analysis

Author: Paul Brennan, Vladimir Bencko, Lenka Foretova, Beata Świątkowska, Dana Mates, Eleonora Fabianova, Jyoti Malhotra, Paolo Boffetta, Peter Rudnai, Valerie Gaborieau, Samantha Sartori, Isabelle Stücker, Neonila Szeszenia-Dabrowska, Jolanta Lissowska, Vladimir Janout, David Zaridze, Malhotra, J., Sartori, S., Brennan, P., Zaridze, D., Szeszenia-Dabrowska, N., wiatkowska, B., Rudnai, P., Lissowska, J., Fabianova, E., Mates, D., Bencko, V., Gaborieau, V., Stücker, I., Foretova, L., Janout, V., and Boffetta, P.
Subjects: Male, Oncology, medicine.medical_specialty, Pathology, Lung Neoplasms, Genotype, Epidemiology, Single-nucleotide polymorphism, Genome-wide association study, Polymorphism, Single Nucleotide, Risk Factors, Occupational Exposure, Internal medicine, Humans, SNP, Medicine, Gene–environment interaction, Occupational exposures - lung cancer, Lung cancer, business.industry, Case-control study, Cancer, Middle Aged, medicine.disease, Lung cancer susceptibility, Europe, Occupational Diseases, Case-Control Studies, Female, Gene-Environment Interaction, business, Genome-Wide Association Study, Signal Transduction
Abstract: Background: Occupational exposures are known risk factors for lung cancer. Role of genetically determined host factors in occupational exposure–related lung cancer is unclear. Methods: We used genome-wide association (GWA) data from a case–control study conducted in 6 European countries from 1998 to 2002 to identify gene–occupation interactions and related pathways for lung cancer risk. GWA analysis was performed for each exposure using logistic regression and interaction term for genotypes, and exposure was included in this model. Both SNP-based and gene-based interaction P values were calculated. Pathway analysis was performed using three complementary methods, and analyses were adjusted for multiple comparisons. We analyzed 312,605 SNPs and occupational exposure to 70 agents from 1,802 lung cancer cases and 1,725 cancer-free controls. Results: Mean age of study participants was 60.1 ± 9.1 years and 75% were male. Largest number of significant associations (P ≤ 1 × 10−5) at SNP level was demonstrated for nickel, brick dust, concrete dust, and cement dust, and for brick dust and cement dust at the gene-level (P ≤ 1 × 10−4). Approximately 14 occupational exposures showed significant gene–occupation interactions with pathways related to response to environmental information processing via signal transduction (P < 0.001 and FDR < 0.05). Other pathways that showed significant enrichment were related to immune processes and xenobiotic metabolism. Conclusion: Our findings suggest that pathways related to signal transduction, immune process, and xenobiotic metabolism may be involved in occupational exposure–related lung carcinogenesis. Impact: Our study exemplifies an integrative approach using pathway-based analysis to demonstrate the role of genetic variants in occupational exposure–related lung cancer susceptibility. Cancer Epidemiol Biomarkers Prev; 24(3); 570–9. ©2015 AACR.
Published: 2015

48. [Analysis of changes in radiographic lung image and lung ventilation disorders in workers occupationally exposed to chrysotile in the past]

Author: Jarosław Tomczyk, Elzbieta Cwynar, and Beata Świątkowska
Subjects: Adult, Male, medicine.medical_specialty, Vital capacity, cumulative exposure, Asbestos, Serpentine, interstitial lung changes, Asbestosis, Cumulative Exposure, medicine.disease_cause, Asbestos, FEV1/FVC ratio, Internal medicine, Occupational Exposure, Chrysotile, Medicine, Humans, Lung, spirometric parameters, Aged, Aged, 80 and over, business.industry, lcsh:Public aspects of medicine, Public Health, Environmental and Occupational Health, chrysotile, lcsh:RA1-1270, Dust, General Medicine, Odds ratio, Middle Aged, medicine.disease, Confidence interval, Female, Radiography, Thoracic, Poland, business, Pulmonary Ventilation
Abstract: The adverse health effects of occupational exposure to asbestos dust may occur several years after first exposure. The objective of the study was to assess the relationship between lesions in the respiratory system and the factors contributing to occupational exposure to asbestos described in the first medical examination as well as to analyze the factors responsible for the progression of these changes in further medical tests.The study group comprised 591 former workers of asbestos processing plant "Gambit" in Lubawka. The results of medical examinations carried out in 2001-2012 were assessed. Statistical inference was performed based on bilateral significance tests at the 0.05 level of significance.A higher risk of interstitial lung changes along with an increase in the cumulative concentration of asbestos was indicated; for the employees with the highest exposure, the adjusted odds ratio (OR) was 1.63 (95% confidence interval (CI): 0.99-2.71), while for changes with the severity degree qualifying for asbestosis diagnosis, the risk was significantly increased, over fivefold higher, compared to subjects employed in the lowest exposure. The analysis of the relationship between the progression of interstitial changes and the exposure to asbestos dust showed a fourfold higher risk of the progression in workers employed in the highest exposure. Mean values of FEV1 (forced expiratory volume in 1 s), FVC (forced vital capacity), FEV1/FVC (forced expiratory volume in 1 s to forced vital capacity) were significantly lower in the subjects working in a higher asbestos exposure. The effect of tobacco smoking on the occurrence of interstitial lung changes and their progression was also confirmed.The results of prophylactic medical examinations of the health status of workers formerly employed in the plants using chrysotile indicate the importance andthe need for a long-term clinical follow-up and the promotion of anti-smoking prevention in this group of former employees. Med Pr 2017;68(2):247-258.Skutki zdrowotne zawodowej ekspozycji na pył azbestu mogą się pojawić po wielu latach od 1. narażenia. Celem pracy jest ocena zależności zmian chorobowych w układzie oddechowym od czynników opisujących zawodową ekspozycję na pył azbestu w 1. badaniu oraz analiza czynników wpływających na progresję tych zmian w kolejnych badaniach.Grupę badaną stanowiło 591 byłych pracowników zakładów azbestowych „Gambit” w Lubawce. Ocenie poddano wyniki badań lekarskich, badań rentgenowskich (rtg.) klatki piersiowej i parametrów sprawności wentylacyjnej płuc przeprowadzonych w latach 2001–2012. Wnioskowanie statystyczne przeprowadzono na podstawie dwustronnych testów istotności przy poziomie istotności 0,05.Potwierdzono zależność występowania zmian chorobowych w układzie oddechowym od wielkości narażenia na pył azbestu. Wykazano wyższe ryzyko zmian śródmiąższowych wraz ze wzrostem stężenia kumulowanego pyłu azbestu – dla pracowników o najwyższym narażeniu skorygowany iloraz szans (odds ratio – OR) wynosił 1,63 (95% przedział ufności (confidence interval – CI): 0,99–2,71), natomiast dla zmian o stopniu zaawansowania kwalifikującym do rozpoznania azbestozy ryzyko było istotnie ponad 5-krotnie wyższe w porównaniu z zatrudnionymi w najniższej ekspozycji. Obserwacja zależności progresji zmian śródmiąższowych od narażenia na pył azbestu wykazała 4-krotnie wyższe ryzyko progresji zmian u pracujących w najwyższym narażeniu. Średnie wartości FEV1 (forced expiratory volume in 1 s – natężona objętość wydechowa pierwszosekundowa), FVC (forced vital capacity – natężona pojemność życiowa), FEV1/FVC (forced expiratory volume in 1 s to forced vital capacity – natężona objętość wydechowa pierwszosekundowa do natężonej pojemności życiowej) były istotnie niższe u pracujących w wyższym narażeniu na pył azbestu. Potwierdzono także wpływ nałogu palenia tytoniu na wystąpienie i progresję zmian śródmiąższowych płuc w badanej populacji.Przeprowadzona analiza wyników profilaktycznych badań stanu zdrowia pracowników zatrudnionych w przeszłości w zakładach stosujących jako surowiec azbest chryzotylowy wskazuje na zasadność ich długoterminowej obserwacji klinicznej oraz promowania profilaktyki antynikotynowej w tej grupie byłych pracowników. Med. Pr. 2017;68(2):247–258.
Published: 2017

49. New legal instruments regarding sharps injuries prevention in healthcare personnel

Author: Beata Świątkowska
Subjects: business.industry, Health care, Medicine, Medical emergency, business, medicine.disease
Published: 2014

50. Effect of a 10-week yoga programme on the quality of life of women after breast cancer surgery

Author: Anna Najder, Kamilla Sierocka, Aleksandra Andysz, Beata Świątkowska, Dorota Merecz, and Aleksandra Wójcik
Subjects: medicine.medical_specialty, Activities of daily living, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Alternative medicine, lcsh:Medicine, Disease, rehabilitation, Breast cancer, breast cancer, Quality of life, Medicine, Original Paper, Rehabilitation, business.industry, lcsh:R, Obstetrics and Gynecology, Cancer, mastectomy, medicine.disease, humanities, Surgery, yoga, quality of life, Physical therapy, business, Mastectomy
Abstract: Aim of the study : The following research is aimed at determining the effect of yoga on the quality of life of women after breast cancer surgery. Material and methods : A 10-week yoga programme included 90-minute yoga lessons once a week. To estimate the quality of life, questionnaires developed by the European Organisation for Research and Treatment of Cancer (QLQ-C30 and QLQ-BR23) were used. An experimental group consisted of 12 women who practised yoga, a control group – of 16 women who did not. Between groups there were no differences in age, time from operation and characteristics associated with disease, treatment and participation in rehabilitation. Results : Our results revealed an improvement of general health and quality of life, physical and social functioning as well as a reduction of difficulties in daily activities among exercising women. Also their future prospects enhanced – they worried less about their health than they used to before participating in the programme. As compared to baseline, among exercising women, fatigue, dyspnoea and discomfort (pain, swelling, sensitivity) in the arm and breast on the operated side decreased. Conclusions : Participation in the exercising programme resulted in an improvement of physical functioning, reduction of fatigue, dyspnoea, and discomfort in the area of the breast and arm on the operated side. Based on our results and those obtained in foreign studies, we conclude that rehabilitation with the use of yoga practice improves the quality of life of the patients after breast cancer surgery. However, we recommend further research on this issue in Poland.
Published: 2014

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