140 results on '"N. G. Martin"'
Search Results
2. Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis
- Author
-
C. S. Gallagher, N. Mäkinen, H. R. Harris, N. Rahmioglu, O. Uimari, J. P. Cook, N. Shigesi, T. Ferreira, D. R. Velez-Edwards, T. L. Edwards, S. Mortlock, Z. Ruhioglu, F. Day, C. M. Becker, V. Karhunen, H. Martikainen, M.-R. Järvelin, R. M. Cantor, P. M. Ridker, K. L. Terry, J. E. Buring, S. D. Gordon, S. E. Medland, G. W. Montgomery, D. R. Nyholt, D. A. Hinds, J. Y. Tung, the 23andMe Research Team, J. R. B. Perry, P. A. Lind, J. N. Painter, N. G. Martin, A. P. Morris, D. I. Chasman, S. A. Missmer, K. T. Zondervan, and C. C. Morton
- Subjects
Science - Abstract
Uterine leiomyomata (UL) or fibroids are neoplasms of the uterine smooth muscle associated with heavy menstrual bleeding and other female reproductive tract morbidity. Here, the authors identify eight previously undescribed genetic loci for UL and further look into genetic overlap with heavy menstrual bleeding and endometriosis.
- Published
- 2019
- Full Text
- View/download PDF
3. Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification
- Author
-
Sara M. Willems, Josée Dupuis, Martina Müller-Nurasyid, Boehnke M, Mark H, Salem, Inês Barroso, Letizia Marullo, Kari Stefansson, C Gieger, Anna Ulrich, Morris J. Brown, González Ksg, Grant W. Montgomery, Anders Hamsten, Emma Ahlqvist, Aaron Isaacs, Kay-Tee Khaw, Amy Hofman, Corrêa Ir, Inger Njølstad, L Zudina, Rona J. Strawbridge, J. Tuomilehto, E Albrecht, Jing Hua Zhao, Patrick M. Sexton, Mark I. McCarthy, Roxana Maria Rujan, Chiara Scapoli, Anne U. Jackson, Ioanna Tzoulaki, van Duijn C, Giuseppe Deganutti, Reedik Mägi, Jose C. Florez, Bernhard O. Boehm, Toby Johnson, Petar Todorov, Jones B, Inga Prokopenko, Leif Groop, Lagou, Hugh Watkins, Balkhiyarova Z, Tomas A, Longda Jiang, Oddgeir L. Holmen, Tan Tm, Barbara Thorand, Andre G. Uitterlinden, Wolfgang Koenig, He Gao, Sodbo Zh Sharapov, Claudia Langenberg, D Rybin, Ayse Demirkan, H Grallert, Christine Meisinger, Eric F, Denise Wootten, Heinz Erich Wichmann, Wolfgang Kratzer, Paul Elliott, Tune H. Pers, Beben Benyamin, Yurii S. Aulchenko, Robert A. Scott, Marika Kaakinen, Alessia David, Tom Wilsgaard, John Whitfield, Patricia B. Munroe, Chen S, Karen L. Mohlke, Alessia Faggian, Evangelos Evangelou, Philippe Froguel, Nicholas J. Wareham, Unnur Thorsteinsdottir, N. G. Martin, Christopher A. Reynolds, Steinthorsdottir, Heather M. Stringham, Mark J. Caulfield, Gudmar Thorleifsson, James B. Meigs, Anuj Goel, Kristian Hveem, Evan L. Brittain, and Julian S
- Subjects
Diabetes Complication ,0303 health sciences ,business.industry ,Glucose Measurement ,Genome-wide association study ,Type 2 diabetes ,medicine.disease ,Bioinformatics ,3. Good health ,03 medical and health sciences ,0302 clinical medicine ,Diabetes mellitus ,medicine ,Blood sugar regulation ,business ,030217 neurology & neurosurgery ,Homeostasis ,030304 developmental biology ,Genetic association - Abstract
Homeostatic control of blood glucose requires different physiological responses in the fasting and post-prandial states. We reasoned that glucose measurements under non-standardised conditions (random glucose; RG) may capture diverse glucoregulatory processes more effectively than previous genome-wide association studies (GWAS) of fasting glycaemia or after standardised glucose loads. Through GWAS meta-analysis of RG in 493,036 individuals without diabetes of diverse ethnicities we identified 128 associated loci represented by 162 distinct signals, including 14 with sex-dimorphic effects, 9 discovered through trans-ethnic analysis, and 70 novel signals for glycaemic traits. Novel RG loci were particularly enriched in expression in the ileum and colon, indicating a prominent role for the gastrointestinal tract in the control of blood glucose. Functional studies and molecular dynamics simulations of coding variants of GLP1R, a well-established type 2 diabetes treatment target, provided a genetic framework for optimal selection of GLP-1R agonist therapy. We also provided new evidence from Mendelian randomisation that lung function is modulated by blood glucose and that pulmonary dysfunction is a diabetes complication. Thus, our approach based on RG GWAS provided wide-ranging insights into the biology of glucose regulation, diabetes complications and the potential for treatment stratification.
- Published
- 2021
4. The Australian Parkinson’s Genetics Study (APGS) - pilot (N = 1,532)
- Author
-
Danuta Z. Loesch, Miguel E. Rentería, Clemens R. Scherzer, Gratten J, Aoibhe Mulcahy, Philip E. Mosley, Poortvliet Pc, N. G. Martin, Adrian I. Campos, Luis M. García-Marín, George D. Mellick, Brittany L. Mitchell, Penelope A. Lind, Ferguson M, Bivol S, Simone M. Cross, Richard Parker, Peter M. Visscher, and Sarah E. Medland
- Subjects
Genetics ,business.industry ,Recall bias ,Cohort ,Etiology ,Medicine ,Anxiety ,Disease ,Medical prescription ,medicine.symptom ,Family history ,business ,Depression (differential diagnoses) - Abstract
PurposeParkinson’s disease (PD) is a neurodegenerative disorder associated with progressive disability. While the precise aetiology is unknown, there is evidence of significant genetic and environmental influences on individual risk. The Australian Parkinson’s Genetics Study (APGS) seeks to study genetic and patient-reported data from a large cohort of individuals with PD in Australia to understand the sociodemographic, genetic, and environmental basis of PD susceptibility, symptoms and progression.ParticipantsIn the pilot phase reported here, 1,819 participants were recruited through assisted mailouts facilitated by Services Australia based on having three or more prescriptions for anti-PD medications in their Pharmaceutical Benefits Scheme (PBS) records. The average age at the time of the questionnaire was 64 ± 6 years. We collected patient-reported PD information and socio-demographic variables via an online (93% of the cohort) or paper-based (7%) questionnaire. One thousand five hundred thirty-two participants (84.2%) met all inclusion criteria, and 1,499 provided a DNA sample via traditional post.Findings to date65% of participants were male, and 92% identified as being of European descent. A previous traumatic brain injury was reported by 16% of participants and was correlated with a younger age of symptom onset. At the time of the questionnaire, constipation (36% of participants), depression (34%), anxiety (17%), melanoma (16%) and diabetes (10%) were the most reported comorbid conditions.Future plansWe plan to recruit sex- and age-matched unaffected controls, genotype all participants, and collect non-motor symptoms and cognitive function data. Future work will explore the role of genetic and environmental factors in the aetiology of PD susceptibility, onset, symptoms, and progression, including as part of international PD research consortia.Article summaryStrengths and limitations of this studyWe used a time- and cost-effective recruitment method that enabled us to reach out to a random sample of individuals who have been prescribed medications for Parkinson’s disease across all over Australia to invite them to participate in this study.The identities of letter recipients remained private and confidential and were not shared with the researchers. However, those recipients who were interested and willing to participate were directed to a website where they could sign up and provide informed consent.The source database only captures individuals who have been prescribed medications to treat Parkinson’s disease in Australia and who are eligible for Medicare. Those without an official diagnosis, not receiving treatment, or not eligible for government subsidies are not included.We collected a wide range of patient-reported variables relevant to disease onset, diagnosis, symptoms, medical comorbidities, lifestyle, and family history in a large cohort of participants. However, some variables might not be as accurate as when measured by a specialist clinician.Given the 9% response rate to our single-letter invitation, there is a substantial risk of self-selection bias. Thus, patient characteristics for this cohort might differ from those of the typical population of individuals with Parkinson’s disease in Australia.
- Published
- 2021
5. Subcortical Volume Trajectories across the Lifespan: Data from 18,605 healthy individuals aged 3-90 years
- Author
-
Lara M. Wierenga, Iris E. C. Sommer, Edith Pomarol-Clotet, Erick J. Canales-Rodríguez, van Erp Tg, Lars T. Westlye, van Haren Ne, Francisco X. Castellanos, P. G. P. Rosa, Kang S, van der Wee Nj, Joaquim Radua, Jim Lagopoulos, José M. Menchón, Helena Fatouros-Bergman, Jan K. Buitelaar, Bernd Weber, Annette Conzelmann, Núria Bargalló, S. E. Medland, Maria J. Portella, Patricia J. Conrod, Amanda Worker, Klaus-Peter Lesch, Jonna Kuntsi, S.G. Potkin, R. Salvador, Knut Schnell, Stefan Borgwardt, Katharina Wittfeld, Kathryn I. Alpert, Dick J. Veltman, de Geus Ej, Ole A. Andreassen, Sophia Frangou, Di Giorgio A, Avram J. Holmes, Rachel M. Brouwer, Thomas Frodl, Lachlan T. Strike, Anton Albajes-Eizagirre, Giulio Pergola, van den Heuvel Oa, Perminder S. Sachdev, Esther Walton, Josiane Bourque, Dag Alnæs, David C. Glahn, Ramona Baur-Streubel, Laura Koenders, Christian K. Tamnes, Alan Breier, Jordan W. Smoller, Yulyia Yoncheva, Marise W. J. Machielsen, Sarah Hohmann, Magnus Andersson, Paola Fuentes-Claramonte, David Mataix-Cols, Salvador Sarró, Stefan Ehrlich, John A. Joska, Marieke Klein, Mauricio H. Serpa, den Braber A, Henry Völzke, Jilly Naaijen, de Haan L, Thomas H. Wassink, Daniel H. Wolf, Thomas Espeseth, Yang Wang, Henrik Walter, Wei Wen, Calhoun, Dan J. Stein, Simon E. Fisher, Eveline A. Crone, Ingrid Agartz, Susanne Erk, Oliver Grimm, Andrew M. McIntosh, Dominik Grotegerd, Henry Brodaty, Katie L. McMahon, Jaap Oosterlaan, Danai Dima, Aurora Bonvino, Anders M. Dale, Alexander Tomyshev, Ignacio Martínez-Zalacaín, Anthony A. James, Andrew J. Kalnin, Barbara Franke, Theophilus N. Akudjedu, Andreas Reif, Pieter J. Hoekstra, Nordvik Je, Lars Nyberg, Bernard Mazoyer, Paul M. Thompson, Andrew J. Saykin, Genevieve McPhilemy, Nhat Trung Doan, Geraldo F. Busatto, Colm McDonald, van ’t Ent D, Sophia I. Thomopoulos, Derrek P. Hibar, Neda Jahanshad, Norbert Hosten, Ryota Kanai, Ruben C. Gur, D.I. Boomsma, Lianne Schmaal, Jean-Paul Fouche, Anne Uhlmann, Jessica A. Turner, Fabrice Crivello, P. Asherson, de la Foz Vo, Heather C. Whalley, C.A. Hartman, Ching Cr, Dirk J. Heslenfeld, Jiyang Jiang, Pascual Sánchez-Juan, Andreas Heinz, Simon Cervenka, Irina V. Lebedeva, Nancy C. Andreasen, Erik G. Jönsson, Oliver Gruber, Ben J. Harrison, Tiffany M. Chaim-Avancini, Sophie Maingault, Efstathios Papachristou, Beng-Choon Ho, Marcus V. Zanetti, Doucet Ge, Nynke A. Groenewold, Sacchet, Andreas Meyer-Lindenberg, Bernhard K. Krämer, M. Aghajani, Diana Tordesillas-Gutiérrez, Martine Hoogman, Lu Wang, Pablo Najt, van den Meer D, Christopher G. Davey, Theodore D. Satterthwaite, René S. Kahn, Margaret J. Wright, N. G. Martin, G. Schumann, Tobias Banaschewski, Amirhossein Modabbernia, Benedicto Crespo-Facorro, Ian B. Hickie, Alessandro Bertolino, Sanne Koops, Sean N. Hatton, Georg C. Ziegler, Carles Soriano-Mas, Kun Yang, Brenna C. McDonald, Sarah Baumeister, Scr Williams, Julian N. Trollor, Paul Pauli, Joshua L. Roffman, Xavier Caseras, Won Hee Lee, Henk Temmingh, Rachel E. Gur, Randy L. Buckner, Vincent P. Clark, Daniel Brandeis, Ian H. Gotlib, Hulshoff Pol He, Hans-Jörgen Grabe, Fleur M. Howells, Christine Lochner, Yannis Paloyelis, Erlend S. Dørum, Suzanne C. Swagerman, Patricia Gruner, Dara M. Cannon, Tomohiro Nakao, Tatyana P Klushnik, Ilya M. Veer, de Zubicaray Gi, Chaim Huyser, John D. West, Luisa Lázaro, and Erin W. Dickie
- Subjects
0303 health sciences ,Putamen ,Thalamus ,Brain morphometry ,Hippocampus ,Nucleus accumbens ,Biology ,03 medical and health sciences ,Lateral ventricles ,0302 clinical medicine ,nervous system ,Brain size ,Basal ganglia ,Neuroscience ,030217 neurology & neurosurgery ,030304 developmental biology - Abstract
Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalised on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine the age-related morphometric trajectories of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3-90 years. All subcortical structure volumes were at their maximum early in life; the volume of the basal ganglia showed a gradual monotonic decline thereafter while the volumes of the thalamus, amygdala and the hippocampus remained largely stable (with some degree of decline in thalamus) until the sixth decade of life followed by a steep decline thereafter. The lateral ventricles showed a trajectory of continuous enlargement throughout the lifespan. Significant age-related increase in inter-individual variability was found for the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to derive risk predictions for the early identification of diverse clinical phenotypes.
- Published
- 2020
6. Author Correction: Understanding the role of bitter taste perception in coffee, tea and alcohol consumption through Mendelian randomization
- Author
-
N. G. Martin, Puya Gharahkhani, Marilyn C. Cornelis, Margaret J. Wright, Debbie A Lawlor, Liang-Dar Hwang, Jue-Sheng Ong, Breslin Pas, Jiyuan An, Stuart MacGregor, John Whitfield, and Victor W. Zhong
- Subjects
Multidisciplinary ,Alcohol Drinking ,Tea ,lcsh:R ,lcsh:Medicine ,Genetic Variation ,Taste Perception ,Mendelian Randomization Analysis ,Coffee ,United Kingdom ,Bitter taste perception ,Taste ,Mendelian randomization ,Humans ,lcsh:Q ,lcsh:Science ,Psychology ,Author Correction ,Alcohol consumption ,Genetic Association Studies ,Clinical psychology - Abstract
Consumption of coffee, tea and alcohol might be shaped by individual differences in bitter taste perception but inconsistent observational findings provide little insight regarding causality. We conducted Mendelian randomization analyses using genetic variants associated with the perception of bitter substances (rs1726866 for propylthiouracil [PROP], rs10772420 for quinine and rs2597979 for caffeine) to evaluate the intake of coffee, tea and alcohol among up to 438,870 UK Biobank participants. A standard deviation (SD) higher in genetically predicted bitterness of caffeine was associated with increased coffee intake (0.146 [95%CI: 0.103, 0.189] cups/day), whereas a SD higher in those of PROP and quinine was associated with decreased coffee intake (-0.021 [-0.031, -0.011] and -0.081 [-0.108, -0.054] cups/day respectively). Higher caffeine perception was also associated with increased risk of being a heavy (4 cups/day) coffee drinker (OR 1.207 [1.126, 1.294]). Opposite pattern of associations was observed for tea possibly due to the inverse relationship between both beverages. Alcohol intake was only negatively associated with PROP perception (-0.141 [-1.88, -0.94] times/month per SD increase in PROP bitterness). Our results reveal that bitter perception is causally associated with intake of coffee, tea and alcohol, suggesting a role of bitter taste in the development of bitter beverage consumption.
- Published
- 2020
7. The CODATwins Project: The Current Status and Recent Findings of COllaborative Project of Development of Anthropometrical Measures in Twins
- Author
-
Xiaohu Ding, Masumi Sugawara, L H Bogl, Karri Silventoinen, Ingunn Brandt, Fazil Aliev, José Maia, Ruth Krasnow, Patrik K. E. Magnusson, Axel Skytthe, Laura A. Baker, Morten Bjerregaard-Andersen, Kimberly J. Saudino, Frank Vitaro, P Tynelius, Lucía Colodro-Conde, Tom A. McAdams, Elliot M. Tucker-Drob, Alice M. Gregory, Robert Vlietinck, Judy L. Silberg, Sooji Lee, Ginette Dionne, Richard Saffery, Rie Tomizawa, Mingguang He, S. A. Burt, Gary E. Swan, Matt McGue, Dongfeng Zhang, Jennifer R. Harris, Ruth J. F. Loos, Liming Li, Clare H. Llewellyn, Nancy L. Pedersen, Lior Abramson, Kaare Christensen, Kirsten Ohm Kyvik, Emanuela Medda, Brooke M. Huibregtse, Mami Tanaka, Gonneke Willemsen, Canqing Yu, Paulo H. Ferreira, Kelly L. Klump, Tracy L. Nelson, David Laszlo Tarnoki, Thomas Sevenius Nilsen, Ariel Knafo-Noam, Satoko Matsumoto, William S. Kremen, Michel Boivin, Lucas Calais-Ferreira, Juan F. Sánchez-Romera, A K Dahl Aslan, Lise Dubois, Mara Brendgen, Carol E. Franz, Thorkild I. A. Sørensen, Zengchang Pang, Norio Sakai, Shandell Pahlen, N. G. Martin, Catherine Tuvblad, Sisira Siribaddana, Sevgi Y. Öncel, Sari Aaltonen, Yoshie Yokoyama, Duarte L. Freitas, Hang A Park, Massimo Mangino, Syuichi Ooki, Paul Lichtenstein, Qihua Tan, H-U Jeong, Claire M. A. Haworth, Catarina Almqvist, Aline Jelenkovic, Meike Bartels, John L. Hopper, Amie E. Hwang, Fujio Inui, Jeffrey M. Craig, Jaakko Kaprio, Thomas M. Mack, Maarit Piirtola, Reijo Sund, Juan R. Ordoñana, Andreas Busjahn, Abigail Fisher, Vilhelmina Ullemar, Robert F. Krueger, Feng Ning, Tessa L. Cutler, Catherine Derom, Jooyeon Lee, Wendy Cozen, Grant W. Montgomery, Gombojav Bayasgalan, K P Harden, David A. Butler, Chika Honda, Thalia C. Eley, Finn Rasmussen, Danshiitsoodol Narandalai, Henning Beck-Nielsen, Matthew Hotopf, Y-M Hur, David Mankuta, Morten Sodemann, Virgilia Toccaceli, Dorret I. Boomsma, Adam Domonkos Tarnoki, Dedra Buchwald, Antti Latvala, Fruhling Rijsdijk, Keith E. Whitfield, Robert Plomin, Joohon Sung, Fuling Ji, Tim D. Spector, Mikio Watanabe, Jacob v. B. Hjelmborg, Genevieve Lachance, Glen E. Duncan, Hermine H. Maes, S. E. Medland, Robin P. Corley, Vinícius Cunha Oliveira, Athula Sumathipala, Lorenza Nisticò, Kerry L. Jang, Wenjing Gao, Christian Kandler, C.E.M. van Beijsterveldt, Margaret Gatz, Esther Rebato, Michael J. Lyons, Kırıkkale Üniversitesi, Université de Montréal. Faculté des arts et des sciences. École de psychoéducation, Helsinki Inequality Initiative (INEQ), Doctoral Programme in Social Sciences, Demography, Population Research Unit (PRU), Center for Population, Health and Society, Sociology, Clinicum, Department of Public Health, University of Helsinki, Department of Social Research (2010-2017), Institute for Molecular Medicine Finland, Genetic Epidemiology, Institute of Criminology and Legal Policy, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, and APH - Methodology
- Subjects
0301 basic medicine ,Male ,Netherlands Twin Register (NTR) ,Aging ,Databases, Factual ,Twins ,ADULTHOOD ,heritability ,BIRTH COHORTS ,Body Mass Index ,0302 clinical medicine ,OLD-AGE ,Twins, Dizygotic ,030212 general & internal medicine ,Child ,Genetics (clinical) ,education ,International comparisons ,1184 Genetics, developmental biology, physiology ,Obstetrics and Gynecology ,Middle Aged ,Child, Preschool ,INFANCY ,Female ,Psychology ,birth size ,Adult ,Adolescent ,RJ ,Birth weight ,Article ,POOLED ANALYSIS ,03 medical and health sciences ,BMI ,SDG 17 - Partnerships for the Goals ,ENVIRONMENTAL VARIATION ,medicine ,Humans ,Socioeconomic status ,METAANALYSIS ,Aged ,Infant, Newborn ,Infant ,Heritability ,medicine.disease ,Obesity ,Zygosity ,Body Height ,BODY-MASS INDEX ,030104 developmental biology ,Socioeconomic Factors ,Pediatrics, Perinatology and Child Health ,Gene-Environment Interaction ,international comparisons ,Body mass index ,Demography ,height - Abstract
Loos, Ruth J F/0000-0002-8532-5087; Huibregtse, Brooke M./0000-0003-0977-7249; Kandler, Christian/0000-0002-9175-235X; Hjelmborg, Jacob/0000-0001-9630-9149; mangino, massimo/0000-0002-2167-7470; Siribaddana, Sisira/0000-0001-5821-2557; Plomin, Robert/0000-0002-0756-3629; Latvala, Antti/0000-0001-5695-117X; Kaprio, Jaakko/0000-0002-3716-2455; Willemsen, Gonneke/0000-0003-3755-0236; Tan, Qihua/0000-0003-3194-0030; Pahlen, Shandell/0000-0003-0753-4155; Pedersen, Nancy/0000-0001-8057-3543; Haworth, Claire/0000-0002-8608-289X; Nistico, Lorenza/0000-0003-1805-6240; Skytthe, Axel/0000-0002-8629-4913; van Beijsterveldt, Toos/0000-0002-6617-4201; Rebato, Esther/0000-0003-1221-8501; Li, Lintao/0000-0002-0604-9660; Bartels, Meike/0000-0002-9667-7555; Silventoinen, Karri/0000-0003-1759-3079; Cunha Oliveira, Vinicius/0000-0002-8658-3774; Sund, Reijo/0000-0002-6268-8117; Sodemann, Morten/0000-0001-8992-2500; Rasmussen, Finn/0000-0001-7915-7809; Harden, Kathryn/0000-0002-1557-6737; Medda, Emanuela/0000-0003-4837-4549; Kyvik, Kirsten Ohm/0000-0003-2981-0245; Colodro Conde, Lucia/0000-0002-9004-364X WOS: 000517442200060 PubMed: 31364586 The COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) project is a large international collaborative effort to analyze individual-level phenotype data from twins in multiple cohorts from different environments. The main objective is to study factors that modify genetic and environmental variation of height, body mass index (BMI, kg/m(2)) and size at birth, and additionally to address other research questions such as long-term consequences of birth size. The project started in 2013 and is open to all twin projects in the world having height and weight measures on twins with information on zygosity. Thus far, 54 twin projects from 24 countries have provided individual-level data. The CODATwins database includes 489,981 twin individuals (228,635 complete twin pairs). Since many twin cohorts have collected longitudinal data, there is a total of 1,049,785 height and weight observations. For many cohorts, we also have information on birth weight and length, own smoking behavior and own or parental education. We found that the heritability estimates of height and BMI systematically changed from infancy to old age. Remarkably, only minor differences in the heritability estimates were found across cultural-geographic regions, measurement time and birth cohort for height and BMI. In addition to genetic epidemiological studies, we looked at associations of height and BMI with education, birth weight and smoking status. Within-family analyses examined differences within same-sex and opposite-sex dizygotic twins in birth size and later development. The CODATwins project demonstrates the feasibility and value of international collaboration to address gene-by-exposure interactions that require large sample sizes and address the effects of different exposures across time, geographical regions and socioeconomic status. Academy of FinlandAcademy of Finland [266592, 100499, 205585, 118555, 141054, 265240, 263278, 264146]; Osaka University's International Joint Research Promotion Program; Centre of Research Excellence Grant from the National Health and Medical Research CouncilNational Health and Medical Research Council of Australia [1079102]; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [R01 HD068435, R01 MH062375, 1R01ESO15150-01, R21 AG039572]; National Medical Research Council Research Fellowship; California Tobacco-Related Disease Research ProgramUniversity of California System [7RT-0134H, 8RT-0107H, 6RT-0354H]; National Institute on AgingUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Aging (NIA) [1RO1-AG13662-01A2]; Swedish Research Council through the Swedish Initiative for Research on Microdata in the Social And Medical Sciences (SIMSAM) [340-2013-5867]; Swedish Heart-Lung FoundationSwedish Heart-Lung Foundation; Swedish Asthma and Allergy Association's Research Foundation; Special Fund for Health Scientific Research in the Public Welfare, China [201502006]; NIDAUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Drug Abuse (NIDA) [DA011015, HD10333]; National Program for Research Infrastructure 2007 from the Danish Agency for Science, Technology and Innovation; Research Council for Health and Disease; Velux Foundation; US National Institute of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [P01 AG08761]; Fund of Scientific Research, FlandersFWO; ENGAGE - European Network for Genetic and Genomic Epidemiology, FP7-HEALTH-F4-2007 [201413]; National Institute of Alcohol Abuse and AlcoholismUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Alcohol Abuse & Alcoholism (NIAAA) [AA-12502, AA-00145, AA-09203]; Academy of Finland Center of Excellence in Complex Disease GeneticsAcademy of Finland [213506, 129680]; Cancer Research UKCancer Research UK [C1418/A7974]; W T Grant Foundation; University of London Central Research fund; Medical Research CouncilMedical Research Council UK (MRC) [G81/343, G120/635]; Economic and Social Research CouncilEconomic & Social Research Council (ESRC) [RES-000-22-2206]; Institute of Social Psychiatry [06/07-11]; Leverhulme Research FellowshipLeverhulme Trust [RF/2/RFG/2008/0145]; Goldsmiths, University of London; UK Medical Research CouncilMedical Research Council UK (MRC) [MR/M021475/1, G0901245]; National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London; NIHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [R01AG053217, RC2 HL103416]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81125007]; Global Research Network Program of the National Research Foundation [NRF 2011-220-E00006]; European Research Council (ERC)European Research Council (ERC) [240994]; Michigan State University; National Institute of Mental Health (NIMH)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Mental Health (NIMH) [R01-MH081813, R01-MH0820-54, R01-MH092377-02, R21-MH070542-01, R03-MH63851-01, 1R01-MH118848-01]; Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD) [R01-HD066040]; MSU Foundation [11-SPG-2518]; Fundacion Seneca, Regional Agency for Science and Technology, Murcia, Spain [08633/PHCS/08, 15302/PHCS/10, 19479/PI/14]; Ministry of Science and Innovation, SpainSpanish Government [PSI2009-11560, PSI2014-56680-R]; MagW/ZonMW [904-61-090, 985-10-002, 912-10-020, 904-61-193, 480-04-004, 463-06-001, 451-04-034, 400-05-717, Addiction-31160008, Middelgroot-911-09-032, Spinozapremie 56-464-14192]; European Research CouncilEuropean Research Council (ERC) [ERC-230374]; JSPS KAKENHI JP [23593419, 24792601, 26671010, 24590695, 26293128, 16K15385, 16K15978, 16K15989, 16H03261]; Australian National Health and Medical Research CouncilNational Health and Medical Research Council of Australia [437015, 607358]; Bonnie Babes Foundation [BBF20704]; Financial Markets Foundation for Children [032-2007]; Victorian Government; Portuguese agency for research (The Foundation for Science and Technology [FCT]) [POCI/DES/56834/2004]; Wellcome TrustWellcome Trust; Medical Research CouncilMedical Research Council UK (MRC); European UnionEuropean Union (EU); National Institute for Health Research (NIHR)National Institute for Health Research (NIHR); King's College London; Fonds Quebecois de la Recherche sur la Societe et la CultureFQRNT; Fonds de la Recherche en Sante du QuebecFonds de la Recherche en Sante du Quebec; Social Science and Humanities Research Council of Canada; National Health Research Development Program; Canadian Institutes for Health ResearchCanadian Institutes of Health Research (CIHR); Sainte-Justine Hospital's Research Center; Canada Research Chair ProgramCanada Research Chairs; National Research Foundation of KoreaNational Research Foundation of Korea [NRF-371-2011-1 B00047]; Swedish Research CouncilSwedish Research Council [2017-00641]; UK Biotechnology and Biological Sciences Research CouncilBiotechnology and Biological Sciences Research Council (BBSRC) [31/D19086]; MRCMedical Research Council UK (MRC) [MR/M021475/1]; Krkkale University [2009/43]; TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [114C117]; National Institute of Mental HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Mental Health (NIMH) [R01 MH58354]; National Institute of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [NIA R01 AG018384, R01 AG018386, R01 AG022381, R01 AG022982]; VA San Diego Center of Excellence for Stress and Mental Health; Cooperative Studies Program of the Office of Research & Development of the United States Department of Veterans Affairs; Japan Society for the Promotion of ScienceMinistry of Education, Culture, Sports, Science and Technology, Japan (MEXT)Japan Society for the Promotion of Science [15H05105]; Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust; Stockholm County Council (ALF-projects)Stockholm County Council; Twins, a nonprofit Association for Scientific Research in Multiple Births (Belgium); [5T32DA017637]; [5T32AG052371] This study was conducted within the CODATwins project (Academy of Finland #266592). K Silventoinen is supported by Osaka University's International Joint Research Promotion Program. This research was facilitated through access to Twins Research Australia, a national resource supported by a Centre of Research Excellence Grant (ID: 1079102), from the National Health and Medical Research Council. The Boston University Twin Project is funded by grants (#R01 HD068435 #R01 MH062375) from the National Institutes of Health to K. Saudino. Paulo Ferreira is funded by a National Medical Research Council Research Fellowship. California Twin Program was supported by The California Tobacco-Related Disease Research Program (7RT-0134H, 8RT-0107H, 6RT-0354H) and the National Institutes of Health (1R01ESO15150-01).; The Carolina African American Twin Study of Aging (CAATSA) was funded by a grant from the National Institute on Aging (grant 1RO1-AG13662-01A2) to K. E. Whitfield. The CATSS-Study is supported by the Swedish Research Council through the Swedish Initiative for Research on Microdata in the Social And Medical Sciences (SIMSAM) framework grant no 340-2013-5867, grants provided by the Stockholm County Council (ALF-projects), the Swedish Heart-Lung Foundation and the Swedish Asthma and Allergy Association's Research Foundation.; Chinese National Twin Registry is funded by Special Fund for Health Scientific Research in the Public Welfare (Project No: 201502006), China. Colorado Twin Registry is funded by NIDA-funded center grant DA011015, & Longitudinal Twin Study HD10333; Author Huibregtse is supported by 5T32DA017637 and 5T32AG052371. Danish Twin Registry is supported by the National Program for Research Infrastructure 2007 from the Danish Agency for Science, Technology and Innovation, The Research Council for Health and Disease, the Velux Foundation and the US National Institute of Health (P01 AG08761). Since its origin, the East Flanders Prospective Survey has been partly supported by grants from the Fund of Scientific Research, Flanders and Twins, a nonprofit Association for Scientific Research in Multiple Births (Belgium). Data collection and analyses in Finnish twin cohorts have been supported by ENGAGE - European Network for Genetic and Genomic Epidemiology, FP7-HEALTH-F4-2007, grant agreement number 201413, National Institute of Alcohol Abuse and Alcoholism (grants AA-12502, AA-00145 and AA-09203 to R J Rose, the Academy of Finland Center of Excellence in Complex Disease Genetics (grant numbers: 213506, 129680), and the Academy of Finland (grants 100499, 205585, 118555, 141054, 265240, 263278 and 264146 to J Kaprio). Gemini was supported by a grant from Cancer Research UK (C1418/A7974). Waves 1-3 of Genesis 12-19 were funded by the W T Grant Foundation, the University of London Central Research fund and a Medical Research Council Training Fellowship (G81/343) and Career Development Award (G120/635) to Thalia C. Eley. Wave 4 was supported by grants from the Economic and Social Research Council (RES-000-22-2206) and the Institute of Social Psychiatry (06/07-11) to Alice M. Gregory, who was also supported at that time by a Leverhulme Research Fellowship (RF/2/RFG/2008/0145). Wave 5 was supported by funding to Alice M. Gregory from Goldsmiths, University of London. T. C. Eley is partly funded by a program grant from the UK Medical Research Council (MR/M021475/1).; This study presents independent research [partly] funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. The Minnesota Twin Registry (MTR) acknowledges support from NIH grant R01AG053217. Guangzhou Twin Eye Study is supported by National Natural Science Foundation of China (grant #81125007). Anthropometric measurements of the Hungarian twins were supported by Medexpert Ltd., Budapest, Hungary. Korean Twin-Family Register was supported by the Global Research Network Program of the National Research Foundation (NRF 2011-220-E00006). Longitudinal Israeli Study of Twins was funded by the Starting Grant no. 240994 from the European Research Council (ERC) to Ariel Knafo. The Michigan State University Twin Registry has been supported by Michigan State University, as well as grants R01-MH081813, R01-MH0820-54, R01-MH092377-02, R21-MH070542-01, R03-MH63851-01 and 1R01-MH118848-01 from the National Institute of Mental Health (NIMH), R01-HD066040 from the Eunice Kennedy Shriver National Institute for Child Health and Human Development (NICHD) and 11-SPG-2518 from the MSU Foundation. The content of this paper is solely the responsibility of the authors and does not necessarily represent the official views of the NIMH, the NICHD or the National Institutes of Health. The Murcia Twin Registry is supported by Fundacion Seneca, Regional Agency for Science and Technology, Murcia, Spain (08633/PHCS/08, 15302/PHCS/10 & 19479/PI/14) and Ministry of Science and Innovation, Spain (PSI2009-11560 & PSI2014-56680-R). The NAS-NRC Twin Registry acknowledges financial support from the National Institutes of Health grant number R21 AG039572. Netherlands Twin Register acknowledges the Netherlands Organization for Scientific Research (NWO) and MagW/ZonMW grants 904-61-090, 985-10-002, 912-10-020, 904-61-193,480-04-004, 463-06-001, 451-04-034, 400-05-717, Addiction-31160008, Middelgroot-911-09-032, Spinozapremie 56-464-14192; VU University's Institute for Health and Care Research (EMGO+); the European Research Council (ERC-230374), the Avera Institute, Sioux Falls, South Dakota (USA). Osaka University Aged Twin Registry is supported by grants from JSPS KAKENHI JP (23593419, 24792601, 26671010, 24590695, 26293128, 16K15385, 16K15978, 16K15989, 16H03261). PETS was supported by grants from the Australian National Health and Medical Research Council (grant numbers 437015 and 607358 to JC, and RS), the Bonnie Babes Foundation (grant number BBF20704 to JMC), the Financial Markets Foundation for Children (grant no. 032-2007 to JMC), and by the Victorian Government's Operational Infrastructure Support Program.; Madeira data comes from the following project: Genetic and environmental influences on physical activity, fitness and health: the Madeira family study Project reference: POCI/DES/56834/2004 Founded by the Portuguese agency for research (The Foundation for Science and Technology [FCT]). TwinsUK receives funding from the Wellcome Trust, Medical Research Council and European Union.; TwinsUK and M. Mangino are supported by the National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust in partnership with King's College London. The Quebec Newborn Twin Study acknowledges financial support from the Fonds Quebecois de la Recherche sur la Societe et la Culture, the Fonds de la Recherche en Sante du Quebec, the Social Science and Humanities Research Council of Canada, the National Health Research Development Program, the Canadian Institutes for Health Research, Sainte-Justine Hospital's Research Center, and the Canada Research Chair Program (Michel Boivin). South Korea Twin Registry is supported by National Research Foundation of Korea (NRF-371-2011-1 B00047). We acknowledge The Swedish Twin Registry for access to data. The Swedish Twin Registry is managed by Karolinska Institutet and receives funding through the Swedish Research Council under the grant no. 2017-00641.; The Twins Early Development Study (TEDS) is supported by a program grant (G0901245) from the UK Medical Research Council and the work on obesity in TEDS is supported in part by a grant from the UK Biotechnology and Biological Sciences Research Council (31/D19086). Currently TEDS is supported by MRC grant 'MR/M021475/1'. The Texas Twin Project is currently funded by grant R01HD083613 from the National Institutes of Health. S. Y. oncel and F. Aliev are supported by Krkkale University Research Grant: KKU, 2009/43 and TUBITAK grant 114C117. The University of Southern California Twin Study is funded by a grant from the National Institute of Mental Health (R01 MH58354). Washington State Twin Registry (formerly the University of Washington Twin Registry) was supported in part by grant NIH RC2 HL103416 (D. Buchwald, PI). Vietnam Era Twin Study of Aging was supported by National Institute of Health grants NIA R01 AG018384, R01 AG018386, R01 AG022381 and R01 AG022982, and, in part, with resources of the VA San Diego Center of Excellence for Stress and Mental Health. The Cooperative Studies Program of the Office of Research & Development of the United States Department of Veterans Affairs has provided financial support for the development and maintenance of the Vietnam Era Twin (VET) Registry. The content of this paper is solely the responsibility of the authors and does not necessarily represent the official views of the NIA/NIH, or the VA. The West Japan Twins and Higher Order Multiple Births Registry was supported by Grant-in-Aid for Scientific Research (B) (grant number 15H05105) from the Japan Society for the Promotion of Science.
- Published
- 2019
8. The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders
- Author
-
H, Chang, N, Hoshina, C, Zhang, Y, Ma, H, Cao, Y, Wang, D-d, Wu, S E, Bergen, M, Landén, C M, Hultman, M, Preisig, Z, Kutalik, E, Castelao, M, Grigoroiu-Serbanescu, A J, Forstner, J, Strohmaier, J, Hecker, T G, Schulze, B, Müller-Myhsok, A, Reif, P B, Mitchell, N G, Martin, P R, Schofield, S, Cichon, M M, Nöthen, H, Walter, S, Erk, A, Heinz, N, Amin, C M, van Duijn, A, Meyer-Lindenberg, H, Tost, X, Xiao, T, Yamamoto, M, Rietschel, M, Li, Louise, Frisén, Catharina, Lavebratt, Lena, Backlund, Martin, Schalling, Urban, Ösby, Thomas W, Mühleisen, Markus, Leber, Franziska, Degenhardt, Jens, Treutlein, Manuel, Mattheisen, Anna, Maaser, Sandra, Meier, Stefan, Herms, Per, Hoffmann, André, Lacour, Stephanie H, Witt, Fabian, Streit, Susanne, Lucae, Wolfgang, Maier, Markus, Schwarz, Helmut, Vedder, Jutta, Kammerer-Ciernioch, Andrea, Pfennig, Michael, Bauer, Martin, Hautzinger, Adam, Wright, Janice M, Fullerton, Grant W, Montgomery, Sarah E, Medland, Scott D, Gordon, Tim, Becker, Johannes, Schumacher, Peter, Propping, Group, The Swedish Bipolar Study, D. S. Bipolar Consortium, Moo, Swedish Bipolar Study Group, MooDS Bipolar Consortium, Backlund, L., Frisén, L., Lavebratt, C., Schalling, M., Ösby, U., Mühleisen, T.W., Leber, M., Degenhardt, F., Treutlein, J., Mattheisen, M., Maaser, A., Meier, S., Herms, S., Hoffmann, P., Lacour, A., Witt, S.H., Streit, F., Lucae, S., Maier, W., Schwarz, M., Vedder, H., Kammerer-Ciernioch, J., Pfennig, A., Bauer, M., Hautzinger, M., Wright, A., Fullerton, J.M., Montgomery, G.W., Medland, S.E., Gordon, S.D., Becker, T., Schumacher, J., Propping, P., Epidemiology, and The Swedish Bipolar Study Group
- Subjects
0301 basic medicine ,Adult ,Male ,Dendritic spine ,Bipolar Disorder ,Genotype ,Dendritic Spines ,Genome-wide association study ,Amygdala ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Cognition ,Risk Factors ,medicine ,Humans ,Genetic Predisposition to Disease ,Bipolar disorder ,ddc:610 ,Molecular Biology ,Neurons ,Depressive Disorder, Major ,Neuronal Plasticity ,Mood Disorders ,Brain ,Dendrites ,Middle Aged ,medicine.disease ,Cadherins ,3. Good health ,Psychiatry and Mental health ,030104 developmental biology ,medicine.anatomical_structure ,Mood disorders ,Schizophrenia ,Synapses ,Major depressive disorder ,Original Article ,Female ,Psychopharmacology ,Psychology ,Neuroscience ,Personality ,Amygdala/physiopathology ,Bipolar Disorder/genetics ,Brain/physiopathology ,Cadherins/genetics ,Cadherins/metabolism ,Cognition/physiology ,Depressive Disorder, Major/genetics ,Genetic Predisposition to Disease/genetics ,Mood Disorders/genetics ,Personality/genetics ,Polymorphism, Single Nucleotide/genetics ,Synapses/genetics ,Synapses/metabolism - Abstract
Major mood disorders, which primarily include bipolar disorder and major depressive disorder, are the leading cause of disability worldwide and pose a major challenge in identifying robust risk genes. Here, we present data from independent large-scale clinical data sets (including 29 557 cases and 32 056 controls) revealing brain expressed protocadherin 17 (PCDH17) as a susceptibility gene for major mood disorders. Single-nucleotide polymorphisms (SNPs) spanning the PCDH17 region are significantly associated with major mood disorders; subjects carrying the risk allele showed impaired cognitive abilities, increased vulnerable personality features, decreased amygdala volume and altered amygdala function as compared with non-carriers. The risk allele predicted higher transcriptional levels of PCDH17 mRNA in postmortem brain samples, which is consistent with increased gene expression in patients with bipolar disorder compared with healthy subjects. Further, overexpression of PCDH17 in primary cortical neurons revealed significantly decreased spine density and abnormal dendritic morphology compared with control groups, which again is consistent with the clinical observations of reduced numbers of dendritic spines in the brains of patients with major mood disorders. Given that synaptic spines are dynamic structures which regulate neuronal plasticity and have crucial roles in myriad brain functions, this study reveals a potential underlying biological mechanism of a novel risk gene for major mood disorders involved in synaptic function and related intermediate phenotypes.
- Published
- 2017
9. Genetic comorbidity between major depression and cardio-metabolic disease, stratified by age at onset of major depression
- Author
-
Ian J. Deary, Cathryn M. Lewis, Mark Adams, Steven P. Hamilton, Yuri Milaneschi, David M. Howard, Darina Czamara, Stanley I. Shyn, Jri Coleman, Giorgio Pistis, Tracy Air, Lisa Jones, Saskia P. Hagenaars, Elisabeth B. Binder, D. H. R. Blackwood, P.F. Sullivan, Naomi R. Wray, Tfm Andlauer, Bernhardt T. Baune, David J. Porteous, Udo Dannlowski, D.I. Boomsma, Karen Hodgson, V. Arolt, Susanne Lucae, Stephan Ripke, Martin Preisig, Micah Cearns, M. J. Owen, Campbell A, Bwjh Penninx, N. G. Martin, Zoltán Kutalik, Ian Jones, Ian B. Hickie, Helena Gaspar, Caroline Hayward, John Whitfield, Andrew M. McIntosh, Sandosh Padmanabhan, Matthew Traylor, Ejc de Geus, Shing Wan Choi, Bertram Mueller-Myhsok, Marcus Ising, Katharina Domschke, J-J Hottenga, and Gerome Breen
- Subjects
2. Zero hunger ,0303 health sciences ,medicine.medical_specialty ,business.industry ,Late onset ,Disease ,Type 2 diabetes ,medicine.disease ,Comorbidity ,3. Good health ,Coronary artery disease ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,business ,Body mass index ,Stroke ,030217 neurology & neurosurgery ,Depression (differential diagnoses) ,030304 developmental biology - Abstract
IntroductionIt’s imperative to understand the specific and shared aetiologies of major depression and cardio-metabolic disease, as both traits are frequently comorbid and each represents a major burden to society. This study examined whether there is a genetic association between major depression and cardio-metabolic traits and if this association is stratified by age at onset for major depression.MethodsPolygenic risk scores analysis and linkage disequilibrium score regression was performed to examine whether differences in shared genetic aetiology exist between depression case control status (N cases = 40,940, N controls = 67,532), earlier (N = 15,844), and later onset depression (N = 15,800) with body mass index, coronary artery disease, stroke, and type 2 diabetes in eleven data sets from the Psychiatric Genomics Consortium, Generation Scotland, and UK Biobank.ResultsAll cardio-metabolic polygenic risk scores were associated with depression status. Significant genetic correlations were found between depression and body mass index, coronary artery disease, and type 2 diabetes. Higher polygenic risk for body mass index, coronary artery disease and type 2 diabetes was associated with both early and later onset depression, while higher polygenic risk for stroke was associated with later onset depression only. Significant genetic correlations were found between body mass index and later onset depression, and between coronary artery disease and both early and late onset depression.ConclusionsThe phenotypic associations between major depression and cardio-metabolic traits may partly reflect their overlapping genetic aetiology irrespective of the age depression first presents.
- Published
- 2019
- Full Text
- View/download PDF
10. Correction: Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank
- Author
-
Roseann E. Peterson, EM Byrne, M J Owen, Sven Cichon, Gcb Sinnamon, Jian Yang, Stephan Ripke, Andreas J. Forstner, Stephanie H. Witt, TM Air, Isaac S. Kohane, M. Rietschel, Tõnu Esko, Jakob Grove, Eske M. Derks, Hans-Jörgen Grabe, Christine Søholm Hansen, Hualin S. Xi, Kenneth I. Berger, A. C. Heath, Henry Völzke, Manuel Mattheisen, Bernard Ng, Hamdi Mbarek, Stefan Kloiber, Jodie N. Painter, Marianne Giørtz Pedersen, Jerome C. Foo, Carsten Horn, Yang Wu, Alexander Viktorin, Hilary K. Finucane, Paf Madden, Lili Milani, Katharina Domschke, Yun Li, Bernard T. Baune, I. Jones, M. M. Nöthen, Atf Beekman, Eric Jorgenson, Matthew Hotopf, Christopher Rayner, Giorgio Pistis, Stanley I. Shyn, J.H. Smit, A Abdellaoui, N. G. Martin, Paul F. O'Reilly, Enrico Domenici, Daphna Levinson, John P. Rice, Thomas Werge, Ling Shen, Catherine Schaefer, Andrea Danese, Jonathan Marchini, Na Cai, Michel G. Nivard, Scott D. Gordon, Shantel Weinsheimer, Steven P. Hamilton, G. Homuth, Yunpeng Wang, David M. Hougaard, Andres Metspalu, Nese Direk, Gonneke Willemsen, Francis M. Mondimore, J-J Hottenga, M. Gill, S. E. Medland, Donald M. Lyall, Peter Hoffmann, Merete Nordentoft, Udo Dannlowski, Stacy Steinberg, Tfm Andlauer, Ian J. Deary, Caroline Hayward, Cathryn M. Lewis, Penelope A. Lind, Nancy L. Pedersen, David J. Porteous, Hogni Oskarsson, D.I. Boomsma, Evelin Mihailov, Thorgeir E. Thorgeirsson, Evangelos Vassos, Rudolf Uher, Gary Davies, Gerome Breen, KW Choi, Christopher Hübel, Carol Kan, Sara A. Paciga, Kirstin L. Purves, Torben Hansen, Jri Coleman, Naomi R. Wray, Erin C. Dunn, Engilbert Sigurdsson, Bradley T. Webb, Jorge A. Quiroz, van, Hemert, Am, Christel M. Middeldorp, Jonas Bybjerg-Grauholm, Robert A. Schoevers, Maciej Trzaskowski, Jing Shi, Ole Mors, Alexander Teumer, Fernando S. Goes, S-A Bacanu, James B. Potash, David J. Smith, Niamh Mullins, EB Binder, J Bryois, Dean F. MacKinnon, Arolt, Daniel Umbricht, Andrew M. McIntosh, P. B. Mortensen, Anders D. Børglum, Futao Zhang, Susanne Lucae, W. Maier, Eva C. Schulte, Jens Treutlein, Carsten Bøcker Pedersen, Henning Tiemeier, Grant W. Montgomery, Trubetskoy, Thomas G. Schulze, Martin Preisig, Bwjh Penninx, TB Bigdeli, Thalia C. Eley, Shing Wan Choi, Robert Maier, E Agerbo, Katherine E. Tansey, P. McGuffin, James A. Knowles, de, Geus, Ejc, Franziska Degenhardt, Jane H. Christensen, Julia Kraft, Enrique Castelao, Ian B. Hickie, Helena Gaspar, Danielle Posthuma, K. Stefansson, Gregory E. Crawford, Wesley K. Thompson, Kas Davis, Jana Strohmaier, Henriette N. Buttenschøn, Margarita Rivera, Josef Frank, Van der Auwera S, Fabian Streit, Erik Pettersson, Peter M. Visscher, Donald J. MacIntyre, Qingqin S. Li, Rick Jansen, Conor V. Dolan, Matthias Nauck, Barbara Maughan, Escott-Price, Glyn Lewis, Patrick K.E. Magnusson, Henning Teismann, DePaulo, Saira Saeed Mirza, Sara Mostafavi, Kenneth S. Kendler, Matthew Traylor, Brien P. Riley, Roy H. Perlis, Patrick J. McGrath, Bertram Müller-Myhsok, Mark Adams, David M. Howard, Lucía Colodro-Conde, Lisa Hall, Divya Mehta, Nyholt, Y. Milaneschi, Jordan W. Smoller, M Baekvad-Hansen, Marcus Ising, M O'Donovan, Warren W. Kretzschmar, Baptiste Couvy-Duchesne, Wouter J. Peyrot, P. A. Thomson, P.F. Sullivan, Stefan Herms, Clarke T, Ffh Kiadeh, Jürgen Wellmann, Lisa Jones, A.G. Uitterlinden, Per Qvist, Z. Kutalik, Hreinn Stefansson, Myrna M. Weissman, and N. Craddock
- Subjects
medicine.medical_specialty ,SDG 16 - Peace ,business.industry ,SDG 16 - Peace, Justice and Strong Institutions ,MEDLINE ,Nearly Every Day ,medicine.disease ,Biobank ,Genome ,Justice and Strong Institutions ,Cellular and Molecular Neuroscience ,Psychiatry and Mental health ,medicine ,Major depressive disorder ,Psychiatry ,business ,Molecular Biology ,Depression (differential diagnoses) - Abstract
Following publication of this article, the authors noticed an error in Supplementary Table 1. In the original Supplementary Table 1, one of the criteria for control participants was incorrectly given as ‘Report extensive recent symptoms of depression: less than 14 on summed response (where “not at all” = 1 and “nearly every day” = 4) to recent’. This has now been corrected to: ‘Report extensive recent symptoms of depression: less than 5 on summed response (where “not at all” = 1 and “nearly every day” = 4) to recent’.
- Published
- 2020
11. Maghemite Nanoparticles Acts as Nanozymes, Improving Growth and Abiotic Stress Tolerance in Brassica napus
- Author
-
N G Martin, Palmqvist, Gulaim A, Seisenbaeva, Peter, Svedlindh, and Vadim G, Kessler
- Subjects
Drought stress ,Catalase activity ,Iron oxide nanoparticles ,Nano Express ,Nano agriculture ,Agrobio nanotechnology ,Growth promotion ,Nanozyme ,Maghemite nanoparticles ,Nanofertilizer ,Reactive oxygen species scavenging - Abstract
Yttrium doping-stabilized γ-Fe2O3 nanoparticles were studied for its potential to serve as a plant fertilizer and, through enzymatic activity, support drought stress management. Levels of both hydrogen peroxide and lipid peroxidation, after drought, were reduced when γ-Fe2O3 nanoparticles were delivered by irrigation in a nutrient solution to Brassica napus plants grown in soil. Hydrogen peroxide was reduced from 151 to 83 μM g−1 compared to control, and the malondialdehyde formation was reduced from 36 to 26 mM g−1. Growth rate of leaves was enhanced from 33 to 50% growth compared to fully fertilized plants and SPAD-measurements of chlorophyll increased from 47 to 52 suggesting improved agronomic properties by use of γ-Fe2O3 nanoparticles as fertilizer as compared to chelated iron. Electronic supplementary material The online version of this article (10.1186/s11671-017-2404-2) contains supplementary material, which is available to authorized users.
- Published
- 2017
12. Controlling nucleation and growth of nano-CaCO
- Author
-
N G Martin, Palmqvist, Jean-Marie, Nedelec, Gulaim A, Seisenbaeva, and Vadim G, Kessler
- Subjects
Drug Delivery Systems ,Carbon Dioxide ,Calcium Carbonate ,Nanocomposites - Abstract
Calcium carbonate is an extremely attractive material in a plethora of biomedical applications. Intensive efforts have recently been made to achieve the control over its nucleation and subsequent aggregation, growth and crystallization; focusing on bringing insight into the role of precursors, solvents and templates. Having analyzed the recently acquired knowledge, we addressed this challenge using COThe proposed sol-gel synthesis of CaCO
- Published
- 2017
13. Humor and Borderline Personality - Retraction
- Author
-
J. A. Schermer, Breanna E. Atkinson, Timothy J. Trull, N. G. Martin, P.A. Vernon, Michael T. Lynskey, and Rod A. Martin
- Subjects
Psychoanalysis ,International congress ,media_common.quotation_subject ,Pediatrics, Perinatology and Child Health ,Obstetrics and Gynecology ,Personality ,Humor styles ,Psychology ,Twin study ,Genetics (clinical) ,Twin Pregnancy ,media_common - Abstract
The first (B.E. Atkinson) and last (P.A. Vernon) authors of the poster, "Humor and Borderline Personality" presented at the 16th International Congress on Twin Studies and the 4th World Congress on Twin Pregnancy in 2017, misappropriated the title and abstract without the permission of any of the other authors from an article published in 2015: Schermer, J. A., Martin, R. A., Martin, N. G., Lynskey, M. T., Trull, T. J., & Vernon, P. A. (2015). 'Humor styles and borderline personality'. Personality and Individual Differences, 87(1), 158-161. https://doi.org/10.1016/j.paid.2015.07.043 In addition, the first author on this poster was not involved in the research. As such, the abstract should be retracted and not cited.
- Published
- 2019
14. Maghemite Nanoparticles Acts as Nanozymes, Improving Growth and Abiotic Stress Tolerance in Brassica napus
- Author
-
Palmqvist, N. G. Martin, Seisenbaeva, Gulaim A., Svedlindh, Peter, Kessler, Vadim G., Palmqvist, N. G. Martin, Seisenbaeva, Gulaim A., Svedlindh, Peter, and Kessler, Vadim G.
- Abstract
Yttrium doping-stabilized γ-Fe2O3 nanoparticles were studied for its potential to serve as a plant fertilizer and, through enzymatic activity, support drought stress management. Levels of both hydrogen peroxide and lipid peroxidation, after drought, were reduced when γ-Fe2O3 nanoparticles were delivered by irrigation in a nutrient solution to Brassica napus plants grown in soil. Hydrogen peroxide was reduced from 151 to 83 μM g−1 compared to control, and the malondialdehyde formation was reduced from 36 to 26 mM g−1. Growth rate of leaves was enhanced from 33 to 50% growth compared to fully fertilized plants and SPAD-measurements of chlorophyll increased from 47 to 52 suggesting improved agronomic properties by use of γ-Fe2O3 nanoparticles as fertilizer as compared to chelated iron.
- Published
- 2017
- Full Text
- View/download PDF
15. Dealing with Temporal Schema Anomalies in History Databases.
- Author
-
N. G. Martin, Shamkant B. Navathe, and Rafi Ahmed
- Published
- 1987
16. Robust Identification of Partial-Correlation Based Networks with Applications to Cortical Thickness Data
- Author
-
Margaret J. Wright, Richard M. Leahy, Katie L. McMahon, David W. Shattuck, Narelle K. Hansell, Anand A. Joshi, N. G. Martin, Paul M. Thompson, and David Wheland
- Subjects
business.industry ,Computer science ,Covariance matrix ,Pattern recognition ,Human Connectome ,Article ,Correlation ,Identification (information) ,symbols.namesake ,Similarity (network science) ,symbols ,Artificial intelligence ,business ,Random variable ,Gaussian network model ,Partial correlation - Abstract
Insight into brain development and organization can be gained by computing correlations between structural and functional measures in parcellated cortex. Partial correlations can often reduce ambiguity in correlation data by identifying those pairs of regions whose similarity cannot be explained by the influence of other regions with which they may both interact. Consequently a graph with edges indicating non-zero partial correlations may reveal important subnetworks obscured in the correlation data. Here we describe and investigate PC∗, a graph pruning algorithm for identification of the partial correlation network in comparison to direct calculation of partial correlations from the inverse of the sample correlation matrix. We show that PC∗ is far more robust and illustrate its use in the study of covariation in cortical thickness in ROIs defined on a parcellated cortex.
- Published
- 2016
17. Characterization of the methylation patterns ofMS4A2in atopic cases and controls
- Author
-
Grant W. Montgomery, M. Ehrich, N. A. Oates, Manuel A. R. Ferreira, Zhen Zhen Zhao, N. G. Martin, Emma Whitelaw, J. van Vliet, and David L. Duffy
- Subjects
Hypersensitivity, Immediate ,Male ,Allergy ,Molecular Sequence Data ,Immunology ,Bisulfite sequencing ,Biology ,Immunoglobulin E ,Atopy ,Genomic Imprinting ,medicine ,Humans ,Immunology and Allergy ,Epigenetics ,Promoter Regions, Genetic ,Genetics ,Base Sequence ,Receptors, IgE ,Promoter ,Methylation ,DNA Methylation ,medicine.disease ,Pedigree ,biology.protein ,MS4A2 ,CpG Islands ,Female - Abstract
Background: It is largely unknown whether epigenetic modifications of key genes may contribute to the reported maternal effects in atopy. The aim of this study was to characterize the methylation patterns of the membrane-spanning 4-domains, subfamily A, member 2 gene (MS4A2 )( b-chain of the IgE high-affinity receptor), a key gene in the allergic cascade. Methods: Mass spectrometry and bisulphite sequencing were used to measure the methylation of two potential substrates for epigenetic regulation of MS4A2, namely a predicted promoter and a CpG-rich AluSp repeat. Methylation was measured in DNA extracted from peripheral blood lymphocytes of 38 atopic cases and 37 controls. Cases were positive for atopy, asthma, bronchial hyper-responsiveness and had high IgE levels. Both parents of eight atopic cases were also tested. Results: The AluSp element was highly methylated across all individuals (mean 0.92, range 0.87–0.94), a pattern inconsistent with classical imprinting. Variation in methylation at this locus was not associated with age, sex, daily steroid use or atopic status, and there were no differences in methylation between mothers and fathers of atopic cases. Bisulphite sequencing analysis of the promoter region showed that it was also not imprinted, and there was no evidence for allele-specific methylation, but we were unable to test for association with atopy status. Conclusions: Methylation levels at the AluSp repeat analysed in MS4A2 were inconsistent with classical imprinting mechanisms and did not associate with atopy status. The promoter region was less methylated but further analysis of this region in larger cohorts is warranted to investigate its role in allergic disease.
- Published
- 2010
18. Family-based mitochondrial association study of traits related to type 2 diabetes and the metabolic syndrome in adolescents
- Author
-
Enda M. Byrne, Peter M. Visscher, Allan F. McRae, Grant W. Montgomery, N. G. Martin, John Whitfield, David L. Duffy, and Zhen Zhen Zhao
- Subjects
Blood Glucose ,Male ,Non-Mendelian inheritance ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,Type 2 diabetes ,Quantitative trait locus ,Biology ,DNA, Mitochondrial ,Internal medicine ,Internal Medicine ,medicine ,Humans ,Family ,Child ,Genetic association ,Metabolic Syndrome ,Genetics ,Geography ,Siblings ,Racial Groups ,medicine.disease ,Lipids ,Endocrinology ,Diabetes Mellitus, Type 2 ,Sample size determination ,Multiple comparisons problem ,Cohort ,Female ,Metabolic syndrome - Abstract
Aims/hypothesis There has been much focus on the potential role of mitochondria in the aetiology of type 2 diabetes and the metabolic syndrome, and many case– control mitochondrial association studies have been undertaken for these conditions. We tested for a potential association between common mitochondrial variants and a number of quantitative traits related to type 2 diabetes in a large sample of >2,000 healthy Australian adolescent twins and their siblings, many of whom were measured on more than one occasion. Methods To the best of our knowledge, this is the first mitochondrial association study of quantitative traits undertaken using family data. The maternal inheritance pattern of mitochondria means established association methodologies are unsuitable for analysis of mitochondrial data in families. We present a methodology, implemented in the freely available program Sib-Pair for performing such an analysis. Results Despite our study having the power to detect variants with modest effects on these phenotypes, only one significant association was found after correction for multiple testing in any of four age groups. This was for mt14365 with triacylglycerol levels (unadjusted p=0.0006). This association was not replicated in other age groups. Conclusions/interpretation We find little evidence in our sample to suggest that common European mitochondrial variants contribute to variation in quantitative phenotypes related to diabetes. Only one variant showed a significant association in our sample, and this association will need to be replicated in a larger cohort. Such replication studies or future meta-analyses may reveal more subtle effects that could not be detected here because of limitations of sample size.
- Published
- 2009
19. The heritability of general cognitive ability increases linearly from childhood to young adulthood
- Author
-
Yulia Kovas, Danielle Posthuma, Margaret J. Wright, Lee A. Thompson, Robin P. Corley, Matt McGue, Meike Bartels, Richard K. Olson, Robert Plomin, Claire M. A. Haworth, David Lubinski, E.J.C. de Geus, Oliver S. P. Davis, Stephen A. Petrill, Sally J. Wadsworth, John C. DeFries, John K. Hewitt, Sara A. Hart, N. G. Martin, C. E. M. van Beijsterveldt, Dorret I. Boomsma, Michelle Luciano, William G. Iacono, Sa Rhea, Biological Psychology, Functional Genomics, Neuroscience Campus Amsterdam - Attention & Cognition, and EMGO+ - Mental Health
- Subjects
Netherlands Twin Register (NTR) ,Adult ,Male ,Aging ,Adolescent ,Article ,Nature versus nurture ,Developmental psychology ,Cellular and Molecular Neuroscience ,Child Development ,Cognition ,Quantitative Trait, Heritable ,Twins, Dizygotic ,Humans ,Young adult ,Child ,Molecular Biology ,Behavioural genetics ,Intelligence Tests ,Intelligence quotient ,Twins, Monozygotic ,Adolescent Development ,Heritability ,Child development ,Twin study ,United States ,Psychiatry and Mental health ,Child, Preschool ,Female ,Psychology ,SDG 4 - Quality Education - Abstract
Although common sense suggests that environmental influences increasingly account for individual differences in behavior as experiences accumulate during the course of life, this hypothesis has not previously been tested, in part because of the large sample sizes needed for an adequately powered analysis. Here we show for general cognitive ability that, to the contrary, genetic influence increases with age. The heritability of general cognitive ability increases significantly and linearly from 41% in childhood (9 years) to 55% in adolescence (12 years) and to 66% in young adulthood (17 years) in a sample of 11 000 pairs of twins from four countries, a larger sample than all previous studies combined. In addition to its far-reaching implications for neuroscience and molecular genetics, this finding suggests new ways of thinking about the interface between nature and nurture during the school years. Why, despite life's slings and arrows of outrageous fortune, do genetically driven differences increasingly account for differences in general cognitive ability? We suggest that the answer lies with genotype-environment correlation: as children grow up, they increasingly select, modify and even create their own experiences in part based on their genetic propensities. © 2010 Macmillan Publishers Limited All rights reserved.
- Published
- 2009
20. Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo
- Author
-
Volker Arolt, Maurizio Fava, Willem A. Nolen, Markus M. Nöthen, Alexandra Schosser, R. van Dyck, D. H. R. Blackwood, Katharina Domschke, K. Pirlo, S.D. Gordon, Michael R. James, N. G. Martin, Wolfgang Maier, Marcella Rietschel, A. C. Heath, Yi Hu, Martin A. Kohli, Grant W. Montgomery, Susanne Lucae, Jordan W. Smoller, August B. Smit, Bernhard T. Baune, Donald J. MacIntyre, Qianchuan He, Anne Farmer, Kevin A. McGhee, Jouke-Jan Hottenga, Frans G. Zitman, Peter McGuffin, B.W.J.H. Penninx, Florian Holsboer, Dorret I. Boomsma, Patrick F. Sullivan, Jan Smit, Danielle Posthuma, Witte J.G. Hoogendijk, Danyu Lin, T. Zandbelt, Naomi R. Wray, Matthijs Verhage, Gonneke Willemsen, Jung-Ying Tzeng, Peter Heutink, E.J.C. de Geus, Walter J. Muir, Patrizia Rizzu, Roy H. Perlis, Sven Cichon, William L. Coventry, Biological Psychology, Molecular and Cellular Neurobiology, Functional Genomics, Neuroscience Campus Amsterdam - Anxiety & Depression, Psychiatry, Human genetics, and NCA - Anxiety & Depression
- Subjects
Male ,Netherlands Twin Register (NTR) ,Genetic Linkage ,Genome-wide association study ,Cohort Studies ,NATIONAL-COMORBIDITY-SURVEY ,0302 clinical medicine ,Copy-number variation ,Genetics ,GENERAL-POPULATION ,0303 health sciences ,PSYCHIATRIC-DISORDERS ,SINGLE-NUCLEOTIDE POLYMORPHISMS ,Middle Aged ,3. Good health ,FALSE DISCOVERY RATE ,Psychiatry and Mental health ,Female ,Psychology ,SAMPLE-SIZE REQUIREMENTS ,Presynaptic active zone ,Adult ,GENETIC-ASSOCIATION ,Netherlands study of depression and anxiety ,Single-nucleotide polymorphism ,Protein Piccolo ,COPY-NUMBER VARIATION ,Polymorphism, Single Nucleotide ,Article ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,SDG 3 - Good Health and Well-being ,Humans ,SNP ,Genetic Predisposition to Disease ,Molecular Biology ,Gene ,030304 developmental biology ,Genetic association ,Depressive Disorder, Major ,SELECTION BIAS ,major depressive disorder ,Neuropeptides ,Netherlands twin registry ,Cytoskeletal Proteins ,HARDY-WEINBERG EQUILIBRIUM ,Case-Control Studies ,genome-wide association ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Major depressive disorder (MDD) is a common complex trait with enormous public health significance. As part of the Genetic Association Information Network initiative of the US Foundation for the National Institutes of Health, we conducted a genome-wide association study of 435 291 single nucleotide polymorphisms (SNPs) genotyped in 1738 MDD cases and 1802 controls selected to be at low liability for MDD. Of the top 200, 11 signals localized to a 167 kb region overlapping the gene piccolo (PCLO, whose protein product localizes to the cytomatrix of the presynaptic active zone and is important in monoaminergic neurotransmission in the brain) with P-values of 7.7 x 10(-7) for rs2715148 and 1.2 x 10(-6) for rs2522833. We undertook replication of SNPs in this region in five independent samples (6079 MDD independent cases and 5893 controls) but no SNP exceeded the replication significance threshold when all replication samples were analyzed together. However, there was heterogeneity in the replication samples, and secondary analysis of the original sample with the sample of greatest similarity yielded P=6.4 x 10(-8) for the nonsynonymous SNP rs2522833 that gives rise to a serine to alanine substitution near a C2 calcium-binding domain of the PCLO protein. With the integrated replication effort, we present a specific hypothesis for further studies.
- Published
- 2009
21. Heritability of borderline personality disorder features is similar across three countries
- Author
-
Marisa Grimmer, Gonneke Willemsen, Marijn A. Distel, Dorret I. Boomsma, Evert Thiery, Timothy J. Trull, N. G. Martin, Catherine Derom, and Biological Psychology
- Subjects
Adult ,Cross-Cultural Comparison ,Male ,Netherlands Twin Register (NTR) ,050103 clinical psychology ,Self Disclosure ,Adolescent ,Personality Inventory ,Developmental psychology ,03 medical and health sciences ,Age Distribution ,0302 clinical medicine ,Belgium ,SDG 3 - Good Health and Well-being ,Borderline Personality Disorder ,Surveys and Questionnaires ,medicine ,Humans ,Genetic Predisposition to Disease ,0501 psychology and cognitive sciences ,Sex Distribution ,Family history ,Borderline personality disorder ,Applied Psychology ,Aged ,Netherlands ,Aged, 80 and over ,Likelihood Functions ,05 social sciences ,Australia ,Social environment ,Middle Aged ,Heritability ,medicine.disease ,Twin study ,Cross-cultural studies ,030227 psychiatry ,Psychiatry and Mental health ,Self-disclosure ,Female ,Personality Assessment Inventory ,Psychology ,Clinical psychology - Abstract
SummaryBackgroundMost of our knowledge about borderline personality disorder features has been obtained through the study of clinical samples. Although these studies are important in their own right, they are limited in their ability to address certain important epidemiological and aetiological questions such as the degree to which there is a genetic influence on the manifestation of borderline personality disorder features. Though family history studies of borderline personality disorder indicate genetic influences, there have been very few twin studies and the degree of genetic influence on borderline personality disorder remains unclear.MethodData were drawn from twin samples from The Netherlands (n=3918), Belgium (n=904) and Australia (n=674). In total, data were available on 5496 twins between the ages of 18 and 86 years from 3644 families who participated in the study by completion of a mailed self-report questionnaire on borderline personality disorder features.ResultsIn all countries, females scored higher than males and there was a general tendency for younger adults to endorse more borderline personality disorder features than older adults. Model-fitting results showed that additive genetic influences explain 42% of the variation in borderline personality disorder features in both men and women and that this heritability estimate is similar across The Netherlands, Belgium and Australia. Unique environmental influences explain the remaining 58% of the variance.ConclusionGenetic factors play a role in individual differences in borderline personality disorder features in Western society.
- Published
- 2008
22. Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity
- Author
-
D. L. Cousminer, D. J. Berry, N. J. Timpson, W. Ang, E. Thiering, E. M. Byrne, H. R. Taal, V. Huikari, J. P. Bradfield, M. Kerkhof, M. M. Groen Blokhuis, E. Kreiner Moller, M. Marinelli, C. Holst, J. T. Leinonen, J. R. B. Perry, I. Surakka, O. Pietilainen, J. Kettunen, V. Anttila, M. Kaakinen, U. Sovio, A. Pouta, S. Das, V. Lagou, C. Power, I. Prokopenko, D. M. Evans, J. P. Kemp, B. St Pourcain, S. Ring, A. Palotie, E. Kajantie, C. Osmond, T. Lehtimaki, J. S. Viikari, M. Kahonen, N. M. Warrington, S. J. Lye, L. J. Palmer, C. M. T. Tiesler, C. Flexeder, G. W. Montgomery, S. E. Medland, A. Hofman, H. Hakonarson, M. Guxens, M. Bartels, V. Salomaa, J. M. Murabito, J. Kaprio, T. I. A. Sorensen, F. Ballester, H. Bisgaard, D. I. Boomsma, G. H. Koppelman, S. F. A. Grant, V. W. V. Jaddoe, N. G. Martin, J. Heinrich, C. E. Pennell, O. T. Raitakari, J. G. Eriksson, G. D. Smith, E. Hypponen, M. R. Jarvelin, M. I. McCarthy, S. Ripatti, E. Widen, Adair LS, Ang W, Atalay M, van Beijsterveldt T, Bergen N, Benke K, Berry DJ, Boomsma DI, Bradfield JP, Charoen P, Coin L, Cooper C, Cousminer DL, Das S, Davis OS, Dedoussis GV, Elliott P, Estivill X, Evans DM, Feenstra B, Flexeder C, Frayling T, Freathy RM, Gaillard R, Geller F, Gillman M, Grant SF, Groen Blokhuis M, Goh LK, Guxens M, Hakonarson H, Hattersley AT, Haworth CM, Hadley D, Hedebrand J, Heinrich J, Hinney A, Hirschhorn JN, Hocher B, Holloway JW, Holst C, Hottenga JJ, Horikoshi M, Huikari V, Hypponen E, Iñiguez C, Jaddoe VW, Jarvelin MR, Kaakinen M, Kilpeläinen TO, Kirin M, Kowgier M, Lakka HM, Lakka TA, Lange LA, Lawlor DA, Lehtimäki T, Lewin A, Lindgren C, Lindi V, Maggi R, Marsh J, McCarthy MI, Melbye M, Middeldorp C, Millwood I, Mohlke KL, Mook Kanamori DO, Murray JC, Nivard M, Nohr EA, Ntalla I, Oken E, Ong KK, O'Reilly PF, Palmer LJ, Panoutsopoulou K, Pararajasingham J, Pearson ER, Pennell CE, Power C, Price TS, Prokopenko I, Raitakari OT, Rodriguez A, Salem RM, Saw SM, Scherag A, Sebert S, Siitonen N, Simell O, Sørensen TI, Sovio U, Pourcain BS, Strachan DP, Sunyer J, Taal HR, Teo YY, Thiering E, Tiesler C, Timpson NJ, Uitterlinden AG, Valcárcel B, Warrington NM, White S, Widén E, Willemsen G, Wilson JF, Yaghootkar H, Zeggini E, Elks CE, Perry JR, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Gudbjartsson DF, Esko T, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JH, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PK, Smith EN, Ulivi S, Warrington M, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, de Faire U, de Geus EJ, Deloukas P, Döring A, Davey Smith G, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, GASPARINI, PAOLO, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin MR, Johnson AD, Karasik D, Khaw KT, Kiel DP, Kolcic I, Kraft P, Launer LJ, Laven JS, Li S, Liu J, Levy D, Martin NG, McArdle WL, Mooser V, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Srinivasan SR, Tammesoo ML, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JB, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, Wichmann HE, Wright AF, Young L, Zhai G, Zhuang WV, Bierut LJ, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJ, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Widen E, Murabito JM, Murray A., D'ADAMO, ADAMO PIO, Cousminer, Diana L, Berry, Diane J, Timpson, Nicholas J, Ang, Wei, Hyppönen, Elina, Widen, Elisabéth, ReproGen Consortium, Early Growth Genetics (EGG) Consortium, Pediatrics, Epidemiology, Internal Medicine, D. L., Cousminer, D. J., Berry, N. J., Timpson, W., Ang, E., Thiering, E. M., Byrne, H. R., Taal, V., Huikari, J. P., Bradfield, M., Kerkhof, M. M., Groen Blokhui, E., Kreiner Moller, M., Marinelli, C., Holst, J. T., Leinonen, J. R. B., Perry, I., Surakka, O., Pietilainen, J., Kettunen, V., Anttila, M., Kaakinen, U., Sovio, A., Pouta, S., Da, V., Lagou, C., Power, I., Prokopenko, D. M., Evan, J. P., Kemp, B., St Pourcain, S., Ring, A., Palotie, E., Kajantie, C., Osmond, T., Lehtimaki, J. S., Viikari, M., Kahonen, N. M., Warrington, S. J., Lye, L. J., Palmer, C. M. T., Tiesler, C., Flexeder, G. W., Montgomery, S. E., Medland, A., Hofman, H., Hakonarson, M., Guxen, M., Bartel, V., Salomaa, J. M., Murabito, J., Kaprio, T. I. A., Sorensen, F., Ballester, H., Bisgaard, D. I., Boomsma, G. H., Koppelman, S. F. A., Grant, V. W. V., Jaddoe, N. G., Martin, J., Heinrich, C. E., Pennell, O. T., Raitakari, J. G., Eriksson, G. D., Smith, E., Hypponen, M. R., Jarvelin, M. I., Mccarthy, S., Ripatti, E., Widen, Adair, L, Ang, W, Atalay, M, van Beijsterveldt, T, Bergen, N, Benke, K, Berry, Dj, Boomsma, Di, Bradfield, Jp, Charoen, P, Coin, L, Cooper, C, Cousminer, Dl, Das, S, Davis, O, Dedoussis, Gv, Elliott, P, Estivill, X, Evans, Dm, Feenstra, B, Flexeder, C, Frayling, T, Freathy, Rm, Gaillard, R, Geller, F, Gillman, M, Grant, Sf, Groen Blokhuis, M, Goh, Lk, Guxens, M, Hakonarson, H, Hattersley, At, Haworth, Cm, Hadley, D, Hedebrand, J, Heinrich, J, Hinney, A, Hirschhorn, Jn, Hocher, B, Holloway, Jw, Holst, C, Hottenga, Jj, Horikoshi, M, Huikari, V, Hypponen, E, Iñiguez, C, Jaddoe, Vw, Jarvelin, Mr, Kaakinen, M, Kilpeläinen, To, Kirin, M, Kowgier, M, Lakka, Hm, Lakka, Ta, Lange, La, Lawlor, Da, Lehtimäki, T, Lewin, A, Lindgren, C, Lindi, V, Maggi, R, Marsh, J, Mccarthy, Mi, Melbye, M, Middeldorp, C, Millwood, I, Mohlke, Kl, Mook Kanamori, Do, Murray, Jc, Nivard, M, Nohr, Ea, Ntalla, I, Oken, E, Ong, Kk, O'Reilly, Pf, Palmer, Lj, Panoutsopoulou, K, Pararajasingham, J, Pearson, Er, Pennell, Ce, Power, C, Price, T, Prokopenko, I, Raitakari, Ot, Rodriguez, A, Salem, Rm, Saw, Sm, Scherag, A, Sebert, S, Siitonen, N, Simell, O, Sørensen, Ti, Sovio, U, Pourcain, B, Strachan, Dp, Sunyer, J, Taal, Hr, Teo, Yy, Thiering, E, Tiesler, C, Timpson, Nj, Uitterlinden, Ag, Valcárcel, B, Warrington, Nm, White, S, Widén, E, Willemsen, G, Wilson, Jf, Yaghootkar, H, Zeggini, E, Elks, Ce, Perry, Jr, Sulem, P, Chasman, Di, Franceschini, N, He, C, Lunetta, Kl, Visser, Ja, Byrne, Em, Gudbjartsson, Df, Esko, T, Koller, Dl, Kutalik, Z, Lin, P, Mangino, M, Marongiu, M, Mcardle, Pf, Smith, Av, Stolk, L, van Wingerden, Sh, Zhao, Jh, Albrecht, E, Corre, T, Ingelsson, E, Hayward, C, Magnusson, Pk, Smith, En, Ulivi, S, Warrington, M, Zgaga, L, Alavere, H, Amin, N, Aspelund, T, Bandinelli, S, Barroso, I, Berenson, G, Bergmann, S, Blackburn, H, Boerwinkle, E, Buring, Je, Busonero, F, Campbell, H, Chanock, Sj, Chen, W, Cornelis, Mc, Couper, D, Coviello, Ad, D'Adamo, ADAMO PIO, de Faire, U, de Geus, Ej, Deloukas, P, Döring, A, Davey Smith, G, Easton, Df, Eiriksdottir, G, Emilsson, V, Eriksson, J, Ferrucci, L, Folsom, Ar, Foroud, T, Garcia, M, Gasparini, Paolo, Gieger, C, Gudnason, V, Hall, P, Hankinson, Se, Ferreli, L, Heath, Ac, Hernandez, Dg, Hofman, A, Hu, Fb, Illig, T, Järvelin, Mr, Johnson, Ad, Karasik, D, Khaw, Kt, Kiel, Dp, Kolcic, I, Kraft, P, Launer, Lj, Laven, J, Li, S, Liu, J, Levy, D, Martin, Ng, Mcardle, Wl, Mooser, V, Murray, S, Nalls, Ma, Navarro, P, Nelis, M, Ness, Ar, Northstone, K, Oostra, Ba, Peacock, M, Palotie, A, Paré, G, Parker, An, Pedersen, Nl, Peltonen, L, Pharoah, P, Polasek, O, Plump, A, Pouta, A, Porcu, E, Rafnar, T, Rice, Jp, Ring, Sm, Rivadeneira, F, Rudan, I, Sala, C, Salomaa, V, Sanna, S, Schlessinger, D, Schork, Nj, Scuteri, A, Segrè, Av, Shuldiner, Ar, Soranzo, N, Srinivasan, Sr, Tammesoo, Ml, Tikkanen, E, Toniolo, D, Tsui, K, Tryggvadottir, L, Tyrer, J, Uda, M, van Dam, Rm, van Meurs, Jb, Vollenweider, P, Waeber, G, Wareham, Nj, Waterworth, Dm, Weedon, Mn, Wichmann, He, Wright, Af, Young, L, Zhai, G, Zhuang, Wv, Bierut, Lj, Boyd, Ha, Crisponi, L, Demerath, Ew, van Duijn, Cm, Econs, Mj, Harris, Tb, Hunter, Dj, Loos, Rj, Metspalu, A, Montgomery, Gw, Ridker, Pm, Spector, Td, Streeten, Ea, Stefansson, K, Thorsteinsdottir, U, Widen, E, Murabito, Jm, Murray, A., Hedebrand, Johannes (Beitragende*r), Hinney, Anke (Beitragende*r), Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Lifestyle, Overweight and Diabetes, Neuroscience Campus Amsterdam - Brain Imaging Technology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Faculteit Medische Wetenschappen/UMCG, Groningen Research Institute of Pharmacy, and Groningen Research Institute for Asthma and COPD (GRIAC)
- Subjects
Male ,Netherlands Twin Register (NTR) ,Genetic Linkage ,Medizin ,Gene Expression ,Genome-wide association study ,VARIANTS ,Body Mass Index ,0302 clinical medicine ,genetic linkage ,Transforming Growth Factor beta ,Neoplasms ,molecular biology ,genetics ,Child ,Genetics (clinical) ,Adiposity ,2. Zero hunger ,0303 health sciences ,adiposity ,Mitogen-Activated Protein Kinase 3 ,Association Studies Articles ,Age Factors ,ACHONDROPLASIA ,General Medicine ,Genome-Wide Association Study ,pubertal height growth ,pubertal timing ,Phenotype ,OBESITY ,Menarche ,body height ,Female ,Signal Transduction ,medicine.medical_specialty ,age factors ,CHROMOSOME 16P11.2 ,Adolescent ,BIRTH ,Quantitative Trait Loci ,030209 endocrinology & metabolism ,Context (language use) ,Biology ,Childhood obesity ,MENARCHE ,Young Adult ,03 medical and health sciences ,AGE ,SDG 3 - Good Health and Well-being ,Prepuberty ,Internal medicine ,Genetics ,medicine ,Humans ,Molecular Biology ,030304 developmental biology ,Sign ,FACTOR RECEPTOR-3 ,MUTATIONS ,Puberty ,ta3121 ,medicine.disease ,Obesity ,Body Height ,Genetic architecture ,Endocrinology ,POPULATION COHORT ,gene expression ,Body mass index ,Follow-Up Studies - Abstract
The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses in 18 737 European samples utilizing longitudinally collected height measurements. We found significant associations (P
- Published
- 2013
23. Behavior Genetics Association 34th Annual Meeting Abstracts
- Author
-
Gina M. Geffen, Laurie B. Geffen, Narelle K. Hansell, N. G. Martin, and Margaret J. Wright
- Subjects
Linkage (software) ,Working memory ,Genetics ,Behavioural sciences ,Psychology ,Genetics (clinical) ,Ecology, Evolution, Behavior and Systematics ,Developmental psychology ,Cognitive psychology - Published
- 2004
24. Poster Presentations
- Author
-
Roger J. Griffin, L. Rigoreau, Bernard T. Golding, Florence I. Raynaud, Jjj Leahy, G. A. Smith, N. G. Martin, Ian R. Hardcastle, ML Stockley, Paul Workman, and Naomi Smith
- Subjects
Cancer Research ,Oncology ,Pharmacokinetics ,Biochemistry ,Chemistry ,DNA-Dependent Protein Kinase ,Throughput (business) - Published
- 2002
25. Multiple Stages Classification of Alzheimer’s Disease Based on Structural Brain Networks Using Generalized Low Rank Approximations (GLRAM)
- Author
-
Yan Jin, N. G. Martin, Jieping Ye, Zhi Nie, Gautam Prasad, Margaret J. Wright, Neda Jahanshad, Yalin Wang, Paul M. Thompson, Katie L. McMahon, G. I. de Zubicaray, and Liang Zhan
- Subjects
Multiple stages ,Computer science ,business.industry ,Rank (computer programming) ,Disease ,Artificial intelligence ,Linear discriminant analysis ,Machine learning ,computer.software_genre ,business ,Feature learning ,computer ,Tractography - Abstract
To classify each stage for a progressing disease such as Alzheimer’s disease is a key issue for the disease prevention and treatment. In this study, we derived structural brain networks from diffusion-weighted MRI using whole-brain tractography since there is growing interest in relating connectivity measures to clinical, cognitive, and genetic data. Relatively little work has used machine learning to make inferences about variations in brain networks in the progression of the Alzheimer’s disease. Here we developed a framework to utilize generalized low rank approximations of matrices (GLRAM) and modified linear discrimination analysis for unsupervised feature learning and classification of connectivity matrices. We apply the methods to brain networks derived from DWI scans of 41 people with Alzheimer’s disease, 73 people with EMCI, 38 people with LMCI, 47 elderly healthy controls and 221 young healthy controls. Our results show that this new framework can significantly improve classification accuracy when combining multiple datasets; this suggests the value of using data beyond the classification task at hand to model variations in brain connectivity.
- Published
- 2014
26. ORTHOTOPIC LIVER TRANSPLANTATION FOR AUTOIMMUNE HEPATITIS AND CRYPTOGENIC CHRONIC HEPATITIS IN CHILDREN1
- Author
-
Mart n G. Martin, Philip J. Rosenthal, Melvin B. Heyman, Ron Bahar, Sue V. McDiarmid, George Gershman, Jorge Vargas, George Yanni, James R. Tipton, Prathiba Nanjundiah, Amy Starr, and Marvin E. Ament
- Subjects
Hepatitis ,endocrine system ,Transplantation ,medicine.medical_specialty ,Orthotopic liver transplantation ,business.industry ,medicine.medical_treatment ,Medical record ,Autoimmune hepatitis ,Disease ,Liver transplantation ,medicine.disease ,Gastroenterology ,digestive system diseases ,Surgery ,surgical procedures, operative ,El Niño ,immune system diseases ,Internal medicine ,medicine ,business - Abstract
Background. Autoimmune hepatitis (AIH) and cryptogenic chronic hepatitis (CCH) are important causes of liver failure in children, frequently necessitating orthotopic liver transplantation (OLT). The aim of this study is to review disease progression and potential differences between subgroups of children with AIH and CCH. Methods. The medical records of 65 children diagnosed with AIH or CCH between 1980 and 1998 were evaluated. Results. The median age at presentation was 9 years, 8 months (range 4 months-19 years), and the median follow-up period was 8 years (range 3 months-18 years, 10 months). Forty-one patients (63%) were female. Twenty-eight patients were Hispanic, 28 were Caucasian, 8 were African-American, and 1 was Asian. Forty-three patients (66%) were diagnosed with type 1 AIH, 8 (12%) with type 2 AIH, and 14 (22%) with CCH. Forty patients (62%) underwent OLT (51% of those with type 1 AIH, 75% of those with type 2 AIH, and 86% of those with CCH). Thirteen (33%) of the transplanted patients experienced disease recurrence. African-American patients experienced a significantly higher rate of disease recurrence post-OLT than did Hispanic patients. Seven patients (11%) died, two without OLT, and five posttransplantation. Conclusions. AIH and CCH frequently necessitate OLT in children. CCH is a more aggressive disease than Type 1 AIH among children with these disorders. Ethnicity influences the rate of disease recurrence after liver transplantation.
- Published
- 2001
27. The effect of apolipoprotein(a)–, apolipoprotein E–, and apolipoprotein A4– polymorphisms on quantitative lipoprotein(a) concentrations
- Author
-
D I, Boomsma, P, Knijff, A, Kaptein, C, Labeur, N G, Martin, L M, Havekes, and H M, Princen
- Subjects
Parents ,Likelihood Functions ,Chi-Square Distribution ,Polymorphism, Genetic ,Adolescent ,Chromosome Mapping ,Genetic Variation ,Obstetrics and Gynecology ,Twins, Monozygotic ,Middle Aged ,Antioxidants ,Genetic Heterogeneity ,Apolipoproteins E ,Pediatrics, Perinatology and Child Health ,Twins, Dizygotic ,Humans ,Protein Isoforms ,Algorithms ,Apolipoproteins A ,Genetics (clinical) ,Lipoprotein(a) ,Netherlands - Abstract
The effects of apolipoprotein (a), apolipoprotein-E, and apolipoprotein-A4 isoforms on quantitative lipoprotein(a) [Lp(a)] levels were assessed in a sample of 142 Dutch families consisting of two parents and their adolescent twin offspring. A total heritability of 95% was estimated for plasma Lp(a) concentrations. The largest part of this heritability was due to the apo(a) locus which explained 61% of the total variance in Lp(a) levels. The pattern of familial correlations for the residual part of the Lp(a) variance that could not be attributed to the apo(a) isoforms, suggested genetic influences on the residual variance. We addressed the question whether this residual genetic variance could be ascribed to the apoE or the apoA4 locus. A simultaneous analysis of all three loci showed that both the apoE and the apoA4 polymorphism did not contribute significantly to Lp(a) variation.
- Published
- 2000
28. Frequency of church attendance in Australia and the United States: models of family resemblance
- Author
-
K M, Kirk, H H, Maes, M C, Neale, A C, Heath, N G, Martin, and L J, Eaves
- Subjects
Adult ,Male ,Sexual Behavior ,Twins ,Genetics, Behavioral ,Environment ,Cohort Studies ,Sex Factors ,Twins, Dizygotic ,Humans ,Family ,Least-Squares Analysis ,Father-Child Relations ,Genetics (clinical) ,Aged ,Likelihood Functions ,Age Factors ,Australia ,Obstetrics and Gynecology ,Twins, Monozygotic ,Middle Aged ,Mother-Child Relations ,United States ,Religion ,Attitude ,Pediatrics, Perinatology and Child Health ,Female - Abstract
Data on frequency of church attendance have been obtained from separate cohorts of twins and their families from the USA and Australia (29,063 and 20,714 individuals from 5670 and 5615 families, respectively). The United States sample displayed considerably higher frequency of attendance at church services. Sources of family resemblance for this trait also differed between the Australian and US data, but both indicated significant additive genetic and shared environment effects on church attendance, with minor contributions from twin environment, assortative mating and parent-offspring environmental transmission. Principal differences between the populations were in greater maternal environmental effects in the US sample, as opposed to paternal effects in the Australian sample, and smaller shared environment effects observed for both women and men in the US cohort.
- Published
- 1999
29. Is disabling fatigue in childhood influenced by genes?
- Author
-
Anne Farmer, N. G. Martin, Alastair G. Cardno, J. Scourfield, and P. McGuffin
- Subjects
Male ,medicine.medical_specialty ,Adolescent ,Population ,Twins ,Environment ,Severity of Illness Index ,Genetic determinism ,Surveys and Questionnaires ,Epidemiology ,Chronic fatigue syndrome ,medicine ,Humans ,Child ,Psychiatry ,education ,Applied Psychology ,education.field_of_study ,Fatigue Syndrome, Chronic ,Chronic fatigue ,medicine.disease ,Zygosity ,Psychiatry and Mental health ,El Niño ,Child, Preschool ,Etiology ,Female ,Psychology ,Clinical psychology - Abstract
Background. Medically unexplained chronic fatigue in childhood may cause considerable disability and (by definition) its cause remains unclear. A study of fatigue in healthy twins has been undertaken to examine whether or not genetic factors play a part.Method. A questionnaire survey of the main carers of an epidemiological population-based sample of 670 twin pairs who were asked about periods of unexplained and disabling fatigue in their twins. Out of 1340 individuals a period of disabling fatigue was reported for 92 (6·9%). Thirty-three (2·5%) reported disabling fatigue for more than 1 month. Zygosity could be confidently assigned in 98% of the sample providing 278 monozygotic (MZ) and 378 dizygotic (DZ) pairs. These data were analysed using a structural equation modelling approach.Results. The results showed that disabling fatigue in childhood is highly familial with an MZ tetrachoric correlation (rMZ) of 0·81 and a DZ tetrachoric correlation (rDZ) of 0·59, for fatigue lasting at least a week. The most acceptable model using Akaike's information criteria, was one containing additive genetic effects (A) and shared environment (C) plus residual (or non-shared) environment (E). For fatigue lasting at least a month rMZ was 0·75 and rDZ 0·47. The most acceptable model included just A and E. However, the role of shared environment could not be conclusively rejected.Conclusions. Unexplained disabling fatigue in childhood is substantially familial. Both genetic and shared environmental factors are worth further exploration in a search for the causes.
- Published
- 1999
30. Book Review
- Author
-
J. M. Bailey, M. P. Dunne, N. G. Martin, and Brunhild Kring
- Subjects
Clinical Psychology - Published
- 2005
31. Correction for Verweij et al. (2012)
- Author
-
Jari Lahti, Karin J. H. Verweij, L. Keltikangas-Jaervinen, Brendan P. Zietsch, Lars Penke, Juha Veijola, A Pouta, Mirka Hintsanen, Anja Taanila, Peter M. Visscher, Kati Heinonen, Laura Pulkki-Råback, N. G. Martin, Jorma Viikari, Johan G. Eriksson, Jian Yang, Matthew C. Keller, Olli T. Raitakari, A. C. Heath, E. Widen, Marjo-Riitta Jaervelin, Katri Raeikkoenen, Grant W. Montgomery, Terho Lehtimaeki, Jouko Miettunen, Mika Kaehoenen, Anu-Katriina Pesonen, A. Palotie, and Matti Isohanni
- Subjects
Personality testing ,Variation (linguistics) ,Evolutionary biology ,Genetics ,Biology ,Heritability ,General Agricultural and Biological Sciences ,Inbreeding ,Ecology, Evolution, Behavior and Systematics - Published
- 2013
32. Erratum: Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci
- Author
-
Caroline Hayward, Lucía Colodro-Conde, David J. Smith, N. G. Martin, Peter Holmans, Riccardo E. Marioni, Gary Davies, Joey Ward, Saskia P. Hagenaars, Mark Adams, Breda Cullen, Barbara I. Nicholl, Donald M. Lyall, Blair H. Smith, Jonathan Evans, Alexey Vedernikov, Jill P. Pell, Catharine R. Gale, Valentina Escott-Price, Andrew M. McIntosh, Ian J. Deary, Mark E.S. Bailey, Brendan Bulik-Sullivan, Baptiste Couvy-Duchesne, Nicholas Graham, Stuart J. Ritchie, Daniel F. Mackay, S. E. Medland, Michelle Luciano, Michael Conlon O'Donovan, David J. Porteous, and D C Liewald
- Subjects
0301 basic medicine ,Genome wide analysis ,Genome-wide association study ,Biology ,Neuroticism ,3. Good health ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Psychiatry and Mental health ,030104 developmental biology ,0302 clinical medicine ,Cohort ,Molecular Biology ,Genotyping ,030217 neurology & neurosurgery ,Demography - Abstract
Correction to: Molecular Psychiatry 21, 749–757; doi:10.1038/mp.2016.49 The GWAS of neuroticism conducted within the Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute cohort did not include covariates of age, sex, genotyping batch and 10 principal components. Adding these covariates does not substantially change the pattern of results within the meta-analysis, but P-values for the nine reported loci have changed slightly (please see revised Figure 2, Table 2A and Table 2B).
- Published
- 2016
33. From GWAS to genome sequencing: complementary approaches to identify melanoma predisposition genes
- Author
-
Stuart MacGregor, Helen Schmid, Lauren G. Aoude, Judith Symmons, David Youngkin, Kevin M. Brown, Sonika Tyagi, Graham J. Mann, Susan L. Woods, Nicholas K. Hayward, Vanessa F. Bonazzi, K Holohan, Richard F. Kefford, Bruce K. Armstrong, Jane M. Palmer, Jeff Trent, Grant W. Montgomery, N. G. Martin, Ken Dutton-Regester, G Giles, John W Kelly, John L. Hopper, Ji Liu, E Gillanders, Mitchell S. Stark, J Aitken, Michael Gartside, Elizabeth A. Holland, David C. Whiteman, Christopher W. Schmidt, David L. Duffy, Chantelle Agha-Hamilton, Mark A. Jenkins, and Anne E. Cust
- Subjects
Genetics ,SLC45A2 ,education.field_of_study ,lcsh:QH426-470 ,biology ,Population ,Single-nucleotide polymorphism ,Genome-wide association study ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,lcsh:RC254-282 ,Penetrance ,lcsh:Genetics ,Oncology ,CDKN2A ,Meeting Abstract ,biology.protein ,education ,neoplasms ,Genotyping ,Genetics (clinical) ,Exome sequencing - Abstract
Family and twin studies indicate that melanoma susceptibility has a strong genetic component. Very rarely, melanoma runs in families in which there is an inherited mutation in a single ‘high penetrance’ gene, but in the general population melanoma susceptibility is thought to be governed by variation in a series of ‘low penetrance’ genes. We sought to identify new melanoma risk genes of both classes by conducting an Australian genome-wide association study (GWAS) of ~2200 melanoma cases and ~4300 matched controls (from the AMFS and Q-MEGA studies), in parallel with whole-genome sequencing of cases from densely affected melanoma families with follow up genotyping of interesting variants in the GWAS sample and other highly case-loaded melanoma families. Genotyping of the GWAS sample was carried out using Illumina Hap610K or OMNI 1M arrays. All 25 SNPs that reached genome-wide statistical significance (i.e. p
- Published
- 2012
34. Testing a model for the genetic structure of personality: A comparison of the personality systems of Cloninger and Eysenck
- Author
-
Andrew C. Heath, C. Robert Cloninger, and N. G. Martin
- Subjects
Sociology and Political Science ,Social Psychology - Published
- 1994
35. Aversive Reactions and Alcohol Use in Europeans
- Author
-
John Whitfield and N. G. Martin
- Subjects
Adult ,Cross-Cultural Comparison ,Male ,Gerontology ,medicine.medical_specialty ,Alcohol Drinking ,Injury control ,Accident prevention ,Medicine (miscellaneous) ,Poison control ,Alcohol ,Acetaldehyde ,Toxicology ,European descent ,chemistry.chemical_compound ,Injury prevention ,Diseases in Twins ,Flushing ,medicine ,Humans ,Psychiatry ,Ethanol ,business.industry ,Aldehyde Dehydrogenase ,Europe ,Isoenzymes ,Psychiatry and Mental health ,chemistry ,Female ,Alcohol intake ,business - Abstract
Two hundred subjects of European descent completed a questionnaire about alcohol use and reactions to alcohol. Eleven subjects (5.5%) reported that they always experienced unpleasant reactions after small amounts of alcohol, and these subjects reported significantly lower levels for quantity and frequency of habitual alcohol use, and fewer drinks in the preceding 7 days, than the other subjects. Reactions to alcohol, either genetic or acquired, can therefore be significant in determining alcohol use in non-Asian groups.
- Published
- 1993
36. Parental depression and offspring psychopathology: a children of twins study
- Author
-
Eric Turkheimer, Robert E. Emery, Pamela A. F. Madden, Andrew C. Heath, Wendy S. Slutske, N. G. Martin, Kathryn Paige Harden, Amber L. Singh, Dixie J. Statham, and Brian M. D’Onofrio
- Subjects
Adult ,Conduct Disorder ,Male ,Parents ,medicine.medical_specialty ,Adolescent ,Offspring ,Twins ,Article ,Young Adult ,Child of Impaired Parents ,Interview, Psychological ,medicine ,History of depression ,Odds Ratio ,Prevalence ,Humans ,Genetic Predisposition to Disease ,Psychiatry ,Spouses ,Applied Psychology ,Depression (differential diagnoses) ,Depressive Disorder, Major ,Hazard ratio ,Australia ,Odds ratio ,Twins, Monozygotic ,medicine.disease ,Twin study ,Survival Analysis ,Psychiatry and Mental health ,Conduct disorder ,Intergenerational Relations ,Female ,Psychology ,Demography ,Psychopathology - Abstract
BackgroundAssociations between parental depression and offspring affective and disruptive disorders are well documented. Few genetically informed studies have explored the processes underlying intergenerational associations.MethodA semi-structured interview assessing DSM-III-R psychiatric disorders was administered to twins (n=1296) from the Australian Twin Register (ATR), their spouses (n=1046) and offspring (n=2555). We used the Children of Twins (CoT) design to delineate the extent to which intergenerational associations were consistent with a causal influence or due to genetic confounds.ResultsIn between-family analyses, parental depression was associated significantly with offspring depression [hazard ratio (HR) 1.52, 95% confidence interval (CI) 1.20–1.93] and conduct disorder (CD; HR 2.27, CI 1.31–3.93). Survival analysis indicated that the intergenerational transmission of depression is consistent with a causal (environmental) inference, with a significant intergenerational association in offspring of discordant monozygotic (MZ) twin pairs (HR 1.39, CI 1.00–1.94). Logistic regression analysis suggested that the parental depression–offspring CD association was due to shared genetic liability in the parents and offspring. No intergenerational association was found when comparing the offspring of discordant MZ twins [odds ratio (OR) 1.41, CI 0.63–3.14], but offspring of discordant dizygotic (DZ) twins differed in their rates of CD (OR 2.53, CI 0.95–6.76). All findings remained after controlling for several measured covariates, including history of depression and CD in the twins' spouses.ConclusionsThe mechanisms underlying associations between parental depression and offspring psychopathology seem to differ depending on the outcome. The results are consistent with a causal environmental role of parental depression in offspring depression whereas common genetic factors account for the association of parental depression and offspring CD.
- Published
- 2010
37. Rheumatoid arthritis in twins: a study of aetiopathogenesis based on the Australian Twin Registry
- Author
-
David L. Duffy, N. G. Martin, John D. Mathews, and Nicholas Bellamy
- Subjects
Adult ,Male ,medicine.medical_specialty ,Adolescent ,Concordance ,Immunology ,Arthritis ,General Biochemistry, Genetics and Molecular Biology ,Arthritis, Rheumatoid ,Rheumatology ,Internal medicine ,Diseases in Twins ,Prevalence ,Twins, Dizygotic ,medicine ,Humans ,Immunology and Allergy ,Lost to follow-up ,Aged ,business.industry ,Age Factors ,Australia ,Twins, Monozygotic ,Middle Aged ,medicine.disease ,Confidence interval ,Surgery ,Rheumatoid arthritis ,Cohort ,Female ,False positive rate ,business ,Research Article - Abstract
The 1980 cohort of the Australian Twin Registry contains 3808 pairs of twins, 258 of whom self reported a diagnosis of rheumatoid arthritis (RA) in one or both subjects. Seventy two pairs were lost to follow up by 1990. The remaining 186 pairs received a self administered questionnaire, followed, if necessary, by telephone interviews to them, their general practitioners, and their specialists. Twenty discordant and three concordant pairs of twins were verified as having RA. The prevalence of RA in this sample was 0.40%. There was an 89% false positive rate for the self reported diagnosis of RA. Pairwise concordance percentages for RA were as follows: monozygotic 21% (95% confidence interval (CI) = 6 to 44), dizygotic 0% (95% CI = 0 to 25). It was concluded that: (a) there is a high false positive rate in self reporting RA; (b) the prevalence of RA in Australia may be less than the 0.8-1.0% often quoted; and (c) genetic factors play some part in the aetiopathogenesis of RA but do not account entirely for its determination.
- Published
- 1992
38. Biochemical intermediates in α1-antitrypsin deficiency: Residual family resemblance for total α1-antitrypsin, oxidized α1-antitrypsin, and immunoglobulin E after adjustment for the effect of the Pi locus
- Author
-
Edwin K. Silverman, John A. Pierce, E. J. Campbell, N. G. Martin, D. C. Rao, and M. A. Province
- Subjects
Genetics ,Epidemiology ,Point mutation ,Locus (genetics) ,Biology ,Immunoglobulin E ,Major gene ,Molecular biology ,Phenotype ,Polygene ,biology.protein ,Pi ,Gene ,Genetics (clinical) - Abstract
alpha 1-antitrypsin (alpha 1 AT) deficiency is variably associated with the development of pulmonary emphysema. To gain insight into the process which begins the Z point mutation at the Protease Inhibitor (Pi) locus and results in the variable development of emphysema, three quantitative phenotypes, including total alpha 1 AT, oxidized alpha 1 AT, and total immunoglobulin E (IgE), were measured in sera from alpha 1-antitrypsin-deficient individuals and their families. The mean and variance effects of the Pi locus on these biochemical phenotypes were removed, and path analysis of the residual phenotypes was performed by using a TAU model to investigate whether there was any additional multifactorial transmission. Significant transmission was demonstrated for total serum IgE and serum-oxidized alpha 1 AT, which could be due to major genes other than the Pi locus, polygenes, or familial environment. Segregation analysis of the residual phenotypes was performed to determine whether additional major gene effects, other than the Pi effect, influence these quantitative phenotypes. Convincing evidence for an additional major gene was not found for oxidized alpha 1 AT, total alpha 1 AT, or IgE.
- Published
- 1990
39. Psychoticism as a dimension of personality: A multivariate genetic test of Eysenck and Eysenck's psychoticism construct
- Author
-
A. C. Heath and N. G. Martin
- Subjects
Sociology and Political Science ,Social Psychology - Published
- 1990
40. Linkage of nicotine dependence and smoking behavior on 10q, 7q and 11p in twins with homogeneous genetic background
- Author
-
Emma S Nyman, N. G. Martin, Ulla Broms, Michele L. Pergadia, P. A. F. Madden, Andrew C. Heath, Sampo Sammalisto, M. Perola, Arpana Agrawal, E. Widen, H Maunu, M Siivola, Leena Peltonen, Kauko Heikkilä, A Salo, Jaakko Kaprio, and Anu Loukola
- Subjects
Male ,Genotype ,Genetic Linkage ,Population ,Twins ,Locus (genetics) ,Odds ,Smoking behavior ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,Medicine ,Humans ,education ,Nicotine dependence ,030304 developmental biology ,Pharmacology ,0303 health sciences ,education.field_of_study ,business.industry ,Chromosomes, Human, Pair 10 ,Chromosomes, Human, Pair 11 ,Alcohol dependence ,Smoking ,Chromosome Mapping ,Tobacco Use Disorder ,Middle Aged ,medicine.disease ,Phenotype ,3. Good health ,Cohort ,Molecular Medicine ,Female ,Lod Score ,business ,030217 neurology & neurosurgery ,Chromosomes, Human, Pair 7 ,Demography - Abstract
The significant worldwide health burden introduced by tobacco smoking highlights the importance of studying the genetic determinants of smoking behavior and the key factor sustaining compulsive smoking, that is, nicotine dependence (ND). We have here addressed the genetic background of smoking in a special study sample of twins, harmonized for early life events and specifically ascertained for smoking from the nationwide twin cohort of the genetically unique population of Finland. The twins and their families were carefully examined for extensive phenotype profiles and a genome-wide scan was performed to identify loci behind the smoking status, ND and the comorbid phenotype of ND and alcohol use in 505 individuals from 153 families. We replicated previous linkage findings on 10q (max logarithm of the odds (LOD) 3.12) for a smoker phenotype, and on 7q and 11p (max LOD 2.50, and 2.25, respectively) for the ND phenotype. The loci linked for ND also showed evidence for linkage for the comorbid phenotype. Our study provides confirmatory evidence for the involvement of these genome regions in the genetic etiology of smoking behavior and ND and for the first time associates drinking and smoking to a shared locus on 10q.
- Published
- 2007
41. Smoking and the genetic contribution to alcohol-dependence risk
- Author
-
P A, Madden, K K, Bucholz, N G, Martin, and A C, Heath
- Subjects
Male ,family AODU history ,Smoking ,Australia ,AOD (alcohol or other drug) dependence potential ,Articles ,genetic correlation analysis ,Alcoholism ,Risk Factors ,genetic theory of AODU (AOD use, abuse, and dependence) ,Humans ,Twin Studies as Topic ,Female ,twin study ,chronic AODE (effects of AOD use, abuse, and dependence) ,alcohol cue - Abstract
Genes influence a person’s risk of becoming a smoker as well as the risk of alcohol dependence. Because substantially higher rates of smoking are observed in alcoholics than in control groups, uncovering the mechanisms underlying this association may have important implications for both treatment and prevention. Data analyses from the 1981 Australian twin panel cohort confirm a positive genetic correlation between regular smoking and the risk of alcohol dependence that remains significant, even when sociodemographic and personality variables as well as histories of other psychopathologies are taken into account. Acute or chronic effects of smoking on subjective responses to alcohol may play a role in this association.
- Published
- 2005
42. Gene–Environment Interactions
- Author
-
N. G. Martin and D. I. Boomsma
- Subjects
Proband ,Genetics ,Variation (linguistics) ,Environmental risk ,fungi ,Disease ,Variance (accounting) ,Limit (mathematics) ,Biology ,Gene ,Index case ,Cognitive psychology - Abstract
These explanations for the variation in disease liability are not mutually exclusive; part of the variance may be explained by the additive actions of genes and environment and another part by their interaction. The properties of such complex models are a mixture of the characteristics of the three basic models, and we limit ourselves to the presentation of these basic models. In discussing some of the predictions based on these models, it is assumed that the environment can be dichotomized into ‘protective’ or ‘predisposing’, and that environmental risk can be assessed in the proband (the index case or patient from whom other family members are identified) and in his or her relatives.
- Published
- 2003
43. Ocular melanoma is not associated with CDKN2A or MC1R variants--a population-based study
- Author
-
Nicholas K. Hayward, Joanne F. Aitken, Anne Kricker, Claire M. Vajdic, Bruce K. Armstrong, N. G. Martin, Jac ter Huurne, Mitchell S. Stark, and David L. Duffy
- Subjects
Risk ,Cancer Research ,Polymorphism,Genetic ,Population ,Ocular Melanoma ,Etiology - Endogenous Factors in the Origin and Cause of Cancer ,Dermatology ,Biology ,Receptor,Melanocortin,Type 1 ,Germline ,Genetics,Population ,Germline mutation ,CDKN2A ,medicine ,Prevalence ,Humans ,genetics ,Research Support,U.S.Gov't,P.H.S ,education ,neoplasms ,Melanoma ,Germ-Line Mutation ,Aged ,Research Support,Non-U.S.Gov't ,education.field_of_study ,Polymorphism, Genetic ,Chi-Square Distribution ,Genes, p16 ,Research ,Eye Neoplasms ,Australia ,Genes,p16 ,DNA, Neoplasm ,Middle Aged ,medicine.disease ,Cancer Type - Skin Cancer ,Genetics, Population ,Oncology ,DNA,Neoplasm ,Case-Control Studies ,Cutaneous melanoma ,Mutation ,Cancer research ,epidemiology ,Receptor, Melanocortin, Type 1 ,Melanocortin 1 receptor - Abstract
Germline variants in the melanocortin 1 receptor gene (MC1R) and the p16 gene (CDKN2A) are associated with an increased risk of cutaneous melanoma. The frequency of these germline variants was examined in a population-based, incident series of 62 ocular melanoma cases and ethnicity-matched population controls. In both cases and controls, 59% of individuals carried at least one MC1R variant and there were no significant differences in the frequency of any of the five most common variants of MC1R. We also found no significant differences between cases and controls in the frequency of any of the four most common variants of CDKN2A, and no melanoma case carried a deleterious germline CDKN2A mutation. Our findings argue against an important predisposing effect of the MC1R and CDKN2A genes for ocular melanoma.
- Published
- 2003
44. Genetic influence on ERP slow wave measures of working memory
- Author
-
N K, Hansell, M J, Wright, G M, Geffen, L B, Geffen, G A, Smith, and N G, Martin
- Subjects
Cerebral Cortex ,Male ,Adolescent ,Models, Genetic ,Intelligence ,Individuality ,Twins ,Genetic Variation ,Prefrontal Cortex ,Retention, Psychology ,Electroencephalography ,Social Environment ,Parietal Lobe ,Humans ,Female - Abstract
Individual differences in the variance of event-related potential (ERP) slow wave (SW) measures were examined. SW was recorded at prefrontal and parietal sites during memory and sensory trials of a delayed-response task in 391 adolescent twin pairs. Familial resemblance was identified and there was a strong suggestion of genetic influence. A common genetic factor influencing memory and sensory SW was identified at the prefrontal site (accounting for an estimated 35%-37% of the reliable variance) and at the parietal site (51%-52% of the reliable variance). Remaining reliable variance was influenced by unique environmental factors. Measurement error accounted for 24% to 30% of the total variance of each variable. The results show genetic independence for recording site, but not trial type, and suggest that the genetic factors identified relate more directly to brain structures, as defined by the cognitive functions they support, than to the cognitive networks that link them.
- Published
- 2002
45. Genetic influence on the variance in P3 amplitude and latency
- Author
-
M J, Wright, N K, Hansell, G M, Geffen, L B, Geffen, G A, Smith, and N G, Martin
- Subjects
Cerebral Cortex ,Male ,Adolescent ,Intelligence ,Twins ,Genetic Variation ,Electroencephalography ,Event-Related Potentials, P300 ,Parietal Lobe ,Mental Recall ,Reaction Time ,Humans ,Attention ,Female - Abstract
The P3(00) event-related potential (ERP) component is widely used as a measure of cognitive functioning and provides a sensitive electrophysiological index of the attentional and working memory demands of a task. This study investigated what proportion of the variance in the amplitude and latency of the P3, elicited in a delayed response working memory task, could be attributed to genetic factors. In 335 adolescent twin pairs and 48 siblings, the amplitude and latency of the P3 were examined at frontal, central, and parietal sites. Additive genetic factors accounted for 48% to 61% of the variance in P3 amplitude. Approximately one-third of the genetic variation at frontal sites was mediated by a common genetic factor that also influenced the genetic variation at parietal and central sites. Familial resemblance in P3 latency was due to genetic influence that accounted for 44% to 50% of the variance. Genetic covariance in P3 latency across sites was substantial, with a large part of the variance found at parietal, central, and frontal sites attributed to a common genetic factor. The findings provide further evidence that the P3 is a promising phenotype of neural activity of the brain and has the potential to be used in linkage and association analysis in the search for quantitative trait loci (QTLs) influencing cognition.
- Published
- 2002
46. An integrative approach for studying the etiology of alcoholism and other addictions
- Author
-
T, Jacob, K J, Sher, K K, Bucholz, W T, True, E J, Sirevaag, J, Rohrbaugh, E, Nelson, R J, Neuman, R D, Todd, W S, Slutske, J B, Whitfield, K M, Kirk, N G, Martin, P A, Madden, and A C, Heath
- Subjects
Male ,Models, Genetic ,Models, Psychological ,Sampling Studies ,Behavior, Addictive ,Alcoholism ,Research Design ,Risk Factors ,Diseases in Twins ,Humans ,Twin Studies as Topic ,Family ,Female ,Parent-Child Relations ,Spouses - Abstract
Studies of alcoholism etiology often focus on genetic or psychosocial approaches, but not both. Greater understanding of the etiology of alcohol, tobacco and other addictions will come from integration of these research traditions. A research approach is outlined to test three models for the etiology of addictions--behavioral undercontrol, pharmacologic vulnerability, negative affect regulation--addressing key questions including (i) mediators of genetic effects, (ii) genotype-environment correlation effects, (iii) genotype x environment interaction effects, (iv) the developmental unfolding of genetic and environmental effects, (v) subtyping including identification of distinct trajectories of substance involvement, (vi) identification of individual genes that contribute to risk, and (vii) the consequences of excessive use. By using coordinated research designs, including prospective assessment of adolescent twins and their siblings and parents; of adult substance dependent and control twins and their MZ and DZ cotwins, the spouses of these pairs, and their adolescent offspring; and of regular families; by selecting for gene-mapping approaches sibships screened for extreme concordance or discordance on quantitative indices of substance use; and by using experimental (drug challenge) as well as survey approaches, a number of key questions concerning addiction etiology can be addressed. We discuss complementary strengths and weaknesses of different sampling strategies, as well as methods to implement such an integrated approach illustrated for the study of alcoholism etiology. A coordinated program of twin and family studies will allow a comprehensive dissection of the interplay of genetic and environmental risk-factors in the etiology of alcoholism and other addictions.
- Published
- 2001
47. Variation in alcohol pharmacokinetics as a risk factor for alcohol dependence
- Author
-
J B, Whitfield, G, Zhu, D L, Duffy, A J, Birley, P A, Madden, A C, Heath, and N G, Martin
- Subjects
Adult ,Male ,Adolescent ,Ethanol ,Genotype ,Smoking ,Alcohol Dehydrogenase ,Twins ,Isoenzymes ,Alcoholism ,Breath Tests ,Risk Factors ,Humans ,Female ,Genetic Predisposition to Disease - Abstract
The significant association between alcohol dehydrogenase (ADH)-2 genotype and alcohol-dependence risk, demonstrated in both Asian and non-Asian populations, suggests a link between the metabolism of alcohol (ethanol) and individual differences in susceptibility to dependence.We tested this hypothesis by following up on subjects who took part in the Alcohol Challenge Twin Study conducted in 1979-1981 and comparing the blood and breath alcohol results in that study between subjects who subsequently did or did not meet diagnostic criteria for lifetime alcohol dependence in 1992-1993.Subjects who met DSM-III-R criteria for lifetime alcohol dependence at follow-up had higher blood and breath alcohol values after alcohol challenge than never-dependent subjects. Multivariate analysis showed independent effects of susceptibility to alcohol dependence and smoking status on blood alcohol concentrations, whereas habitual alcohol intake at the time of the initial study had marginally significant effects. The risk of alcohol dependence was 2-fold higher in men and 3-fold higher in women with blood or breath alcohol concentrations in the highest quartile than in the lowest quartile.In view of this association and the known genetic influences on both alcohol pharmacokinetics and alcohol dependence, it is probable that part of the heritability of dependence is mediated by genes (other than the known ADH2 and ADH3 polymorphisms) affecting alcohol metabolism.
- Published
- 2001
48. Effects of alcohol consumption on indices of iron stores and of iron stores on alcohol intake markers
- Author
-
J B, Whitfield, G, Zhu, A C, Heath, L W, Powell, and N G, Martin
- Subjects
Adult ,Male ,Sex Characteristics ,Polymorphism, Genetic ,Alcohol Drinking ,Ethanol ,Genotype ,Iron ,Smoking ,Transferrin ,Central Nervous System Depressants ,Alanine Transaminase ,gamma-Glutamyltransferase ,Body Mass Index ,Humans ,Female ,Aspartate Aminotransferases ,Biomarkers - Abstract
Alcohol increases body iron stores. Alcohol and iron may increase oxidative stress and the risk of alcohol-related liver disease. The relationship between low or "safe" levels of alcohol use and indices of body iron stores, and the factors that affect the alcohol-iron relationship, have not been fully characterized. Other aspects of the biological response to alcohol use have been reported to depend on iron status.We have measured serum iron, transferrin, and ferritin as indices of iron stores in 3375 adult twin subjects recruited through the Australian Twin Registry. Information on alcohol use and dependence and smoking was obtained from questionnaires and interviews.Serum iron and ferritin increased progressively across classes of alcohol intake. The effects of beer consumption were greater than those of wine or spirits. Ferritin concentration was significantly higher in subjects who had ever been alcohol dependent. There was no evidence of interactions between HFE genotype or body mass index and alcohol. Alcohol intake-adjusted carbohydrate-deficient transferrin was increased in women in the lowest quartile of ferritin results, whereas adjusted gamma-glutamyltransferase, aspartate aminotransferase, and alanine aminotransferase values were increased in subjects with high ferritin.Alcohol intake at low level increases ferritin and, by inference, body iron stores. This may be either beneficial or harmful, depending on circumstances. The response of biological markers of alcohol intake can be affected by body iron stores; this has implications for test sensitivity and specificity and for variation in biological responses to alcohol use.
- Published
- 2001
49. A study of the genetic and environmental etiology of stuttering in a selected twin sample
- Author
-
S, Felsenfeld, K M, Kirk, G, Zhu, D J, Statham, M C, Neale, and N G, Martin
- Subjects
Adult ,Cohort Studies ,Male ,Adolescent ,Risk Factors ,Diseases in Twins ,Twins, Dizygotic ,Humans ,Female ,Genetic Predisposition to Disease ,Stuttering ,Twins, Monozygotic ,Social Environment - Abstract
Stuttering is a developmental disorder of speech production that usually emerges in childhood. In this study, a large population-based twin sample from the Australian Twin Registry (1567 pairs and 634 singles aged 17-29 years) was screened to identify twin pairs in which one or both members reported themselves to be affected by stuttering. Telephone interview-based diagnoses were obtained for 457 of these individuals (self-reported affected cases, cotwins, and controls) to determine whether the self-report was correct. To correct for ascertainment bias we carried out a bivariate analysis of the final diagnosis in the selected sample with the screening item in the full sample, using the categorical raw data option of Mx 1.47c. After correcting for ascertainment bias, approximately 70% (95% confidence interval: 39-86%) of the variance in liability to stuttering was found to be attributable to additive genetic effects, with the remainder due to nonshared environmental effects.
- Published
- 2001
50. Measurement models for sexual orientation in a community twin sample
- Author
-
K M, Kirk, J M, Bailey, M P, Dunne, and N G, Martin
- Subjects
Adult ,Male ,Adolescent ,Models, Genetic ,Sexual Behavior ,Homosexuality ,Twins, Monozygotic ,Middle Aged ,Social Environment ,Cohort Studies ,Phenotype ,Twins, Dizygotic ,Humans ,Female - Abstract
Multivariate structural equation modeling techniques have been applied to examine the causes of individual differences in responses to several items concerning sexual orientation. To minimize potential ascertainment and response biases, the study sample involved a large (N = 4901) community-based cohort of Australian twins aged 18-52 who answered an anonymous questionnaire on sexual behavior and attitudes. The statistical power of the analysis was increased by the availability of multiple measures of sexual orientation (behaviors, attitudes and feelings), providing stronger evidence for the existence of additive genetic influences on this phenotype than in a previous analysis (Bailey et al., 2000). Estimates of the heritability of homosexuality in this sample ranged between 50 and 60% in females but were significantly lower (heritability of approximately 30%) in males.
- Published
- 2001
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.