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11 results on '"Primary Hlth Care"'

1. Cognitive impairment in a primary healthcare population: a cross-sectional study on the island of Crete, Greece

Author: Bertsias, Antonios Konstantinos Tsiligianni, Loanna Papadakis, Sophia Zaganas, Loannis Duijker, George Symvoulakis, Emmanouil K. Papadokostakis, Polyvios Makri, Kornilia and Latraki, Eliza Tziraki, Chariklia Basta, Maria Panagiotakis, Simeon Boumpas, Dimitrios Moschandreas, Joanna Simos, Panagiotis Vgontzas, Alexandros Lionis, Christos Cretan Primary Hlth Care Ageing Ne
Abstract: Objectives Cognitive impairment is known to have a significant impact on the quality of life of individuals and their caregivers, yet it is often underdiagnosed. The objective of this study is to assess the extent of cognitive impairment among elders visiting primary healthcare (PHC) practice settings, to explore associated risk factors and discuss current care challenges for PHC providers. Design A cross-sectional study was conducted between March 2013 and May 2014. Setting Fourteen PHC units located in rural and urban areas of the Heraklion district in Crete, Greece. Participants Consecutive visitors aged at least 60 years attending selected PHC practices. Primary and secondary outcome measures The Mini-Mental State Examination (MMSE) was used to indicate cognitive status. Associations of low MMSE scores (
Published: 2020

2. Residual normal B-cell profiles in monoclonal B-cell lymphocytosis versus chronic lymphocytic leukemia

Author: Criado, I., Blanco, E., Rodriguez-Caballero, A., Alcoceba, M., Contreras, T., Gutierrez, M.L., Romero, A., Fernandez-Navarro, P., Gonzalez, M., Solano, F., Gomez, C., Perez-Andres, M., Dongen, J.J.M. van, Almeida, J., Orfao, A., EuroFlow PID Grp, Primary Hlth Care Grp Salamanca, Red Temática de Investigación Cooperativa en Cáncer (España), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), and Junta de Castilla y León
Subjects: Male, Cancer Research, Chronic lymphocytic leukaemia, Chronic lymphocytic leukemia, Lymphocytosis, Brief Communication, 03 medical and health sciences, 0302 clinical medicine, Text mining, medicine, Humans, B cell, Aged, B-Lymphocytes, B cells, business.industry, Hematology, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, Leukemia, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Cancer research, Monoclonal B-cell lymphocytosis, Female, business, 030215 immunology
Abstract: © The Author(s) 2018., Chronic lymphocytic leukemia (CLL) is the most common adult leukemia in Western countries, which is characterized by the accumulation of mature CD5+/CD20lo/CD23+ clonal B-cells in peripheral blood (PB), bone marrow (BM), and other lymphoid tissues [1]. Currently, it is well-established that CLL is systematically preceded by a pre-leukemic stage, known as monoclonal B-cell lymphocytosis (MBL) [2]; MBL includes both low-count (MBLlo) and high-count MBL (MBLhi), depending on the number of PB clonal B-cells (70 y) [4, 5]. The biological and clinical significance of CLL-like clonal B-cells in PB of otherwise healthy individuals (MBLlo) has not been fully elucidated [6,7,8]. Recently, we have reported a very low rate of transformation of MBLlo to MBLhi/CLL, after 7 years of follow-up [8]. In contrast, we found a higher frequency of deaths in MBLlo subjects vs. age- and sex-matched non-MBL healthy adults from the same geographical area; among the former subjects, infection was an overrepresented cause of death (21% vs. 2%, respectively) [8]. This is in line with previous studies showing an ≈3-fold increased risk of infection in both MBLhi and CLL patients, in whom infections also represent a major cause of death [9, 10]., This work was supported by the RD06/0020/0035 and RD12/0036/0048 grants from Red Temática de Investigación Cooperativa en Cáncer (RTICC), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, (Madrid, Spain and FONDOS FEDER); CB16/12/00400 and CB16/12/00233 grants, CIBERONC, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad, (Madrid, Spain and FONDOS FEDER); the FIS PI06/0824-FEDER, PS09/02430-FEDER, PI12/00905-FEDER, DTS15/00119-FEDER, and PI17/00399-FEDER grants, from the Fondo de Investigación Sanitaria of Instituto de Salud Carlos III; the GRS206/A/08 grant (Ayuda al Grupo GR37 de Excelencia, SAN/1778/2009) from the Gerencia Regional de Salud (Consejería de Educación and Consejería de Sanidad of Castilla y León, Valladolid, Spain). MLG is supported by grant PTA2014-09963-I from the Instituto de Salud Carlos III and AR-C is supported by grant CB16/12/00400, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad.
Published: 2018
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3. Risk of Cause-Specific Death in Individuals With Diabetes: A Competing Risks Analysis

Author: Baena-Díez, Jose Miguel, Peñafiel, Judit, Subirana, Isaac, Ramos, Rafel, Elosua, Roberto, Marín-Ibañez, Alejandro, Guembe, María Jesús, Rigo, Fernando, Tormo-Díaz, María José, Moreno-Iribas, Conchi, Cabré, Joan Josep, Segura, Antonio, García-Lareo, Manel, Gómez de la Cámara, Agustín, Lapetra, José, Quesada, Miquel, Marrugat, Jaume, Medrano, Maria José, Berjón, Jesús, Frontera, Guiem, Gavrila, Diana, Barricarte, Aurelio, Basora, Josep, García, Jose María, Pavone, Natalia C, Lora-Pablos, David, Mayoral, Eduardo, Franch, Josep, Mata, Manel, Castell, Conxa, Frances, Albert, Grau, María, FRESCO Investigators, [Miguel Baena-Diez, Jose] Hosp del Mar, Med Res Inst, REGICOR Study Grp Cardiovasc Epidemiol & Genet, Barcelona, Spain, [Penafiel, Judit] Hosp del Mar, Med Res Inst, REGICOR Study Grp Cardiovasc Epidemiol & Genet, Barcelona, Spain, [Subirana, Isaac] Hosp del Mar, Med Res Inst, REGICOR Study Grp Cardiovasc Epidemiol & Genet, Barcelona, Spain, [Elosua, Roberto] Hosp del Mar, Med Res Inst, REGICOR Study Grp Cardiovasc Epidemiol & Genet, Barcelona, Spain, [Marrugat, Jaume] Hosp del Mar, Med Res Inst, REGICOR Study Grp Cardiovasc Epidemiol & Genet, Barcelona, Spain, [Grau, Maria] Hosp del Mar, Med Res Inst, REGICOR Study Grp Cardiovasc Epidemiol & Genet, Barcelona, Spain, [Miguel Baena-Diez, Jose] Catalan Inst Hlth, Primary Care Ctr La Marina, Barcelona, Spain, [Garcia-Lareo, Manel] Catalan Inst Hlth, Primary Care Ctr La Marina, Barcelona, Spain, [Pavone, Natalia C.] Catalan Inst Hlth, Primary Care Ctr La Marina, Barcelona, Spain, [Miguel Baena-Diez, Jose] Catalan Inst Hlth, Primary Hlth Care Res Inst Jordi Gol, Barcelona, Spain, [Garcia-Lareo, Manel] Catalan Inst Hlth, Primary Hlth Care Res Inst Jordi Gol, Barcelona, Spain, [Pavone, Natalia C.] Catalan Inst Hlth, Primary Hlth Care Res Inst Jordi Gol, Barcelona, Spain, [Miguel Baena-Diez, Jose] Consortium Biomed Res Epidemiol & Publ Hlth, Madrid, Spain, [Subirana, Isaac] Consortium Biomed Res Epidemiol & Publ Hlth, Madrid, Spain, [Gomez de la Carnara, Agustin] Consortium Biomed Res Epidemiol & Publ Hlth, Madrid, Spain, [Gavrila, Diana] Consortium Biomed Res Epidemiol & Publ Hlth, Madrid, Spain, [Barricarte, Aurelio] Consortium Biomed Res Epidemiol & Publ Hlth, Madrid, Spain, [Lora-Pablos, David] Consortium Biomed Res Epidemiol & Publ Hlth, Madrid, Spain, [Ramos, Rafel] Catalan Inst Hlth, Family Med Res Unit, Girona, Spain, [Jose Tormo-Diaz, Maria] Catalan Inst Hlth, Family Med Res Unit, Girona, Spain, [Quesada, Miguel] Catalan Inst Hlth, Family Med Res Unit, Girona, Spain, [Ramos, Rafel] Catalan Inst Hlth, Primary Hlth Care Res Unit, Inst Jordi Gol, Girona, Spain, [Jose Tormo-Diaz, Maria] Catalan Inst Hlth, Primary Hlth Care Res Unit, Inst Jordi Gol, Girona, Spain, [Quesada, Miguel] Catalan Inst Hlth, Primary Hlth Care Res Unit, Inst Jordi Gol, Girona, Spain, [Ramos, Rafel] Univ Girona, Girona, Spain, [Marin-Ibanez, Alejandro] San Jose Norte Hlth Ctr, Zaragoza, Spain, [Jesus Guembe, Maria] Navarra Govt, Dept Hlth, Vasc Risk Navarra Res Grp, Pamplona, Spain, [Berjon, Jesus] Navarra Govt, Dept Hlth, Vasc Risk Navarra Res Grp, Pamplona, Spain, [Jesus Guembe, Maria] Navarra Govt, Dept Hlth, Knowledge Planning Evaluat & Management, Navarra, Spain, [Rigo, Fernando] Cardiovasc Grp Balear Isl, Palma De Mallorca, Spain, [Frontera, Guiem] Cardiovasc Grp Balear Isl, Palma De Mallorca, Spain, [Jose Tormo-Diaz, Maria] Murcian Hlth Dept, Murcia, Spain, [Jose Tormo-Diaz, Maria] Univ Murcia, Murcia, Spain, [Jose Tormo-Diaz, Maria] Murcian Inst Biomed Res, Murcia, Spain, [Moreno-Iribas, Conchi] Navarre Publ Hlth Inst, Pamplona, Spain, [Barricarte, Aurelio] Navarre Publ Hlth Inst, Pamplona, Spain, [Moreno-Iribas, Conchi] Res Network Hlth Serv Chron Dis, Pamplona, Spain, [Moreno-Iribas, Conchi] Navarra Hlth Res Inst, Pamplona, Spain, [Berjon, Jesus] Navarra Hlth Res Inst, Pamplona, Spain, [Barricarte, Aurelio] Navarra Hlth Res Inst, Pamplona, Spain, [Josep Cabre, Joan] Catalan Inst Hlth, Primary Care Ctr Sant Pere Ctr, Reus, Spain, [Josep Cabre, Joan] Catalan Inst Hlth, Primary Hlth Care Res Unit, Inst Jordi Gol, Reus, Spain, [Segura, Antonio] Castille La Mancha Government, Dept Hlth & Social Affairs, Hlth Sci Inst, Talavera De La Reina, Spain, [Maria Garcia, Jose] Castille La Mancha Government, Dept Hlth & Social Affairs, Hlth Sci Inst, Talavera De La Reina, Spain, [Gomez de la Carnara, Agustin] Hosp 12 Octubre Res Inst, Clin Res Dept, Madrid, Spain, [Lora-Pablos, David] Hosp 12 Octubre Res Inst, Clin Res Dept, Madrid, Spain, [Lapetra, Jose] Consortium Biomed Res Obes & Nutr, Madrid, Spain, [Mayora, Eduardo] Consortium Biomed Res Obes & Nutr, Madrid, Spain, [Lapetra, Jose] Primary Care Ctr San Pablo, Dept Family Med, Primary Care Div, Seville, Spain, [Jose Medrano, Maria] Carlos III Hlth Inst, Madrid, Spain, [Gavrila, Diana] Murcia Govt, Hlth & Consumers Dept, Murcia, Spain, [Basora, Josep] Catalan Inst Hlth, Primary Hlth Care Res Unit, Inst Jordi Gol, Reus, Spain, [Mayora, Eduardo] Andalusia Hlth Serv, Diabet Strategy, Seville, Spain, [Franch, Josep] Catalan Inst Hlth, Primary Care Ctr Raval Sud, Barcelona, Spain, [Franch, Josep] Catalan Inst Hlth, Primary Hlth Care Res Unit, Inst Jordi Gol, Barcelona, Spain, [Franch, Josep] Consortium Biomed Res Diabet & Associated Metab D, Madrid, Spain, [Mata, Manel] Primary Care Ctr La Mina, Barcelona, Spain, [Mata, Manel] Catalan Inst Hlth, Inst Jordi Gol, Primary Hlth Care Res Unit, Barcelona, Spain, [Castell, Conxa] Govt Catalonia, Publ Hlth Agcy, Barcelona, Spain, [Frances, Albert] Hosp del Mar, Dept Urol, Barcelona, Spain, [Grau, Maria] Univ Barcelona, Barcelona, Spain, MARATO TV3, Institute de Salud Carlos III-Fondo Europeo de Desarrollo Regional-European Regions Development Funds, Agency for Management of University and Research Grants, Consortium for Biomedical Research in Epidemiology and Public Health, Consortium for Biomedical Research in Obesity and Nutrition, and Instituto de Salud Carlos III-Fondo Europeo de Desarrollo Regional-European Regions Development Fund FEDER
Subjects: Blood Glucose, Male, Complications, Endocrinology, Diabetes and Metabolism, Disease, 030204 cardiovascular system & hematology, Cohort Studies, 0302 clinical medicine, Risk Factors, Cause of Death, Neoplasms, Cause of death, education.field_of_study, Diabetis, Hazard ratio, Diabetes, Metaanalysis, Middle Aged, Cardiovascular Diseases, Female, Risk assessment, Cohort study, Adult, medicine.medical_specialty, Coronary-heart-disease, Population, 030209 endocrinology & metabolism, Sistema cardiovascular -- Malalties -- Mortalitat, Risk Assessment, Càncer -- Mortalitat, 03 medical and health sciences, Life Expectancy, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Mortality, education, Aged, Advanced and Specialized Nursing, business.industry, Mellitus, Hazards, All-cause, Cardiovascular risk, medicine.disease, Myocardial-infarction, Glucose, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Multivariate Analysis, Life expectancy, business, Follow-Up Studies
Abstract: OBJECTIVE: Diabetes is a common cause of shortened life expectancy. We aimed to assess the association between diabetes and cause-specific death. RESEARCH DESIGN AND METHODS: We used the pooled analysis of individual data from 12 Spanish population cohorts with 10-year follow-up. Participants had no previous history of cardiovascular diseases and were 35-79 years old. Diabetes status was self-reported or defined as glycemia >125 mg/dL at baseline. Vital status and causes of death were ascertained by medical records review and linkage with the official death registry. The hazard ratios and cumulative mortality function were assessed with two approaches, with and without competing risks: proportional subdistribution hazard (PSH) and cause-specific hazard (CSH), respectively. Multivariate analyses were fitted for cardiovascular, cancer, and noncardiovascular noncancer deaths. RESULTS: We included 55,292 individuals (15.6% with diabetes and overall mortality of 9.1%). The adjusted hazard ratios showed that diabetes increased mortality risk: 1) cardiovascular death, CSH = 2.03 (95% CI 1.63-2.52) and PSH = 1.99 (1.60-2.49) in men; and CSH = 2.28 (1.75-2.97) and PSH = 2.23 (1.70-2.91) in women; 2) cancer death, CSH = 1.37 (1.13-1.67) and PSH = 1.35 (1.10-1.65) in men; and CSH = 1.68 (1.29-2.20) and PSH = 1.66 (1.25-2.19) in women; and 3) noncardiovascular noncancer death, CSH = 1.53 (1.23-1.91) and PSH = 1.50 (1.20-1.89) in men; and CSH = 1.89 (1.43-2.48) and PSH = 1.84 (1.39-2.45) in women. In all instances, the cumulative mortality function was significantly higher in individuals with diabetes. CONCLUSIONS: Diabetes is associated with premature death from cardiovascular disease, cancer, and noncardiovascular noncancer causes. The use of CSH and PSH provides a comprehensive view of mortality dynamics in a population with diabetes. This work was supported by MARATO TV3 (081630), Instituto de Salud Carlos III–Fondo Europeo de Desarrollo Regional–European Regions Development Funds (Red de Investigación Cardiovascular RD12/0042 [Programa HERACLES], Red RedIAPP RD12/0005, RD06/0018, PI081327, and PI1101801), Agency for Management of University and Research Grants (2014 SGR 240), Consortium for Biomedical Research in Epidemiology and Public Health, and Consortium for Biomedical Research in Obesity and Nutrition. M.G. was supported by the Instituto de Salud Carlos III– Fondo Europeo de Desarrollo Regional–European Regions Development Fund FEDER (FIS CP12/ 03287).
Published: 2016

4. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight NCD Risk Factor Collaboration (NCD-RisC)

Author: Iurilli, Maria L. C., Zhou, Bin, Bennett, James E., Carrillo-Larco, Rodrigo M., Sophiea, Marisa K., Rodriguez-Martinez, Andrea, Bixby, Honor, Solomon, Bethlehem D., Taddei, Cristina, Danaei, Goodarz, Di Cesare, Mariachiara, Stevens, Gretchen A., Riley, Leanne M., Savin, Stefan, Cowan, Melanie J., Bovet, Pascal, Damasceno, Albertino, Chirita-Emandi, Adela, Hayes, Alison J., Ikeda, Nayu, Jackson, Rod T., Khang, Young-Ho, Laxmaiah, Avula, Liu, Jing, Miranda, J. Jaime, Saidi, Olfa, Sebert, Sylvain, Soric, Maroje, Starc, Gregor, Gregg, Edward W., Abarca-Gomez, Leandra, Abdeen, Ziad A., Abdrakhmanova, Shynar, Ghaffar, Suhaila Abdul, Rahim, Hanan F. Abdul, Abu-Rmeileh, Niveen M., Garba, Jamila Abubakar, Acosta-Cazares, Benjamin, Adams, Robert J., Aekplakorn, Wichai, Afsana, Kaosar, Afzal, Shoaib, Agdeppa, Imelda A., Aghazadeh-Attari, Javad, Aguilar-Salinas, Carlos A., Agyemang, Charles, Ahmad, Mohamad Hasnan, Ahmad, Noor Ani, Ahmadi, Ali, Ahmadi, Naser, Ahmed, Soheir H., Ahrens, Wolfgang, Aitmurzaeva, Gulmira, Ajlouni, Kamel, Al-Hazzaa, Hazzaa M., Al-Lahou, Badreya, Al-Raddadi, Rajaa, Alarouj, Monira, AlBuhairan, Fadia, AlDhukair, Shahla, Ali, Mohamed M., Alkandari, Abdullah, Alkerwi, Ala'a, Allin, Kristine, Alvarez-Pedrerol, Mar, Aly, Eman, Amarapurkar, Deepak N., Amiri, Parisa, Amougou, Norbert, Amouyel, Philippe, Andersen, Lars Bo, Anderssen, Sigmund A., Angquist, Lars, Anjana, Ranjit Mohan, Ansari-Moghaddam, Alireza, Aounallah-Skhiri, Hajer, Araujo, Joana, Ariansen, Inger, Aris, Tahir, Arku, Raphael E., Arlappa, Nimmathota, Aryal, Krishna K., Aspelund, Thor, Assah, Felix K., Assuncao, Maria Cecilia F., Aung, May Soe, Auvinen, Juha, Avdicova, Maria, Avi, Shina, Azevedo, Ana, Azimi-Nezhad, Mohsen, Azizi, Fereidoun, Azmin, Mehrdad, Babu, Bontha, Jorgensen, Maja Boksgaard, Baharudin, Azli, Bahijri, Suhad, Baker, Jennifer L., Balakrishna, Nagalla, Bamoshmoosh, Mohamed, Banach, Maciej, Bandosz, Piotr, Banegas, Jose R., Baran, Joanna, Barbagallo, Carlo M., Barcelo, Alberto, Barkat, Amina, Barros, Aluisio Jd, Gomes Barros, Mauro Virgilio, Basit, Abdul, Bastos, Joao Luiz D., Bata, Iqbal, Batieha, Anwar M., Batista, Rosangela L., Battakova, Zhamilya, Batyrbek, Assembekov, Baur, Louise A., Beaglehole, Robert, Bel-Serrat, Silvia, Belavendra, Antonisamy, Ben Romdhane, Habiba, Benedics, Judith, Benet, Mikhail, Bergh, Ingunn Holden, Berkinbayev, Salim, Bernabe-Ortiz, Antonio, Bernotiene, Gailute, Bettiol, Heloisa, Bezerra, Jorge, Bhagyalaxmi, Aroor, Bharadwaj, Sumit, Bhargava, Santosh K., Bhutta, Zulfiqar A., Bi, Hongsheng, Bi, Yufang, Bia, Daniel, Lele, Elysee Claude Bika, Bikbov, Mukharram M., Bista, Bihungum, Bjelica, Dusko J., Bjerregaard, Peter, Bjertness, Espen, Bjertness, Marius B., Bjorkelund, Cecilia, Bloch, Katia, Blokstra, Anneke, Bo, Simona, Bobak, Martin, Boddy, Lynne M., Boehm, Bernhard O., Boeing, Heiner, Boggia, Jose G., Bogova, Elena, Boissonnet, Carlos P., Bojesen, Stig E., Bonaccio, Marialaura, Bongard, Vanina, Bonilla-Vargas, Alice, Bopp, Matthias, Borghs, Herman, Braeckevelt, Lien, Braeckman, Lutgart, Bragt, Marjolijn C. E., Brajkovich, Imperia, Branca, Francesco, Breckenkamp, Juergen, Breda, Joao, Brenner, Hermann, Brewster, Lizzy M., Brian, Garry R., Brinduse, Lacramioara, Brophy, Sinead, Bruno, Graziella, Bueno-de-Mesquita, H. Bas, Bugge, Anna, Buoncristiano, Marta, Burazeri, Genc, Burns, Con, Cabrera de Leon, Antonio, Cacciottolo, Joseph, Cai, Hui, Cama, Tilema, Cameron, Christine, Camolas, Jose, Can, Gunay, Candido, Ana Paula C., Canete, Felicia, Capanzana, Mario, Capkova, Nadezda, Capuano, Eduardo, Capuano, Vincenzo, Cardol, Marloes, Cardoso, Viviane C., Carlsson, Axel C., Carmuega, Esteban, Carvalho, Joana, Casajus, Jose A., Casanueva, Felipe F., Celikcan, Ertugrul, Censi, Laura, Cervantes-Loaiza, Marvin, Cesar, Juraci A., Chamukuttan, Snehalatha, Chan, Angelique W., Chan, Queenie, Chaturvedi, Himanshu K., Chaturvedi, Nish, Rahim, Norsyamlina Che Abdul, Chee, Miao Li, Chen, Chien-Jen, Chen, Fangfang, Chen, Huashuai, Chen, Shuohua, Chen, Zhengming, Cheng, Ching-Yu, Cheraghian, Bahman, Chetrit, Angela, Chikova-Iscener, Ekaterina, Chiolero, Arnaud, Chiou, Shu-Ti, Chirlaque, Maria-Dolores, Cho, Belong, Christensen, Kaare, Christofaro, Diego G. [UNESP], Chudek, Jerzy, Cifkova, Renata, Cilia, Michelle, Cinteza, Eliza, Claessens, Frank, Clarke, Janine, Clays, Els, Cohen, Emmanuel, Concin, Hans, Confortin, Susana C., Cooper, Cyrus, Coppinger, Tara C., Corpeleijn, Eva, Costanzo, Simona, Cottel, Dominique, Cowell, Chris, Craig, Cora L., Crampin, Amelia C., Crujeiras, Ana B., Csilla, Semanova, Cucu, Alexandra M., Cui, Liufu, Cureau, Felipe, Czenczek-Lewandowska, Ewelina, D'Arrigo, Graziella, D'Orsi, Eleonora, Dacica, Liliana, Dal Re Saavedra, Maria Angeles, Dallongeville, Jean, Damsgaard, Camilla T., Dankner, Rachel, Dantoft, Thomas M., Dasgupta, Parasmani, Dastgiri, Saeed, Dauchet, Luc, Davletov, Kairat, De Backer, Guy, De Bacquer, Dirk, Gaetano, Giovanni de, De Henauw, Stefaan, Oliveira, Paula Duarte de, De Ridder, David, De Ridder, Karin, Rooij, Susanne R. de, De Smedt, Delphine, Deepa, Mohan, Deev, Alexander D., DeGennaro, Vincent, Dehghan, Abbas, Delisle, Helene, Delpeuch, Francis, Demarest, Stefaan, Dennison, Elaine, Deren, Katarzyna, Deschamps, Valerie, Dhimal, Meghnath, Di Castelnuovo, Augusto F., Dias-da-Costa, Juvenal Soares, Diaz-Sanchez, Maria Elena, Diaz, Alejandro, Dika, Zivka, Djalalinia, Shirin, Djordjic, Visnja, Do, Ha T. P., Dobson, Annette J., Donati, Maria Benedetta, Donfrancesco, Chiara, Donoso, Silvana P., Doring, Angela, Dorobantu, Maria, Dorosty, Ahmad Reza, Doua, Kouamelan, Dragano, Nico, Drygas, Wojciech, Duan, Jia Li, Duante, Charmaine A., Duboz, Priscilla, Duda, Rosemary B., Duleva, Vesselka, Dulskiene, Virginija, Dumith, Samuel C., Dushpanova, Anar, Dzerve, Vilnis, Dziankowska-Zaborszczyk, Elzbieta, Eddie, Ricky, Eftekhar, Ebrahim, Egbagbe, Eruke E., Eggertsen, Robert, Eghtesad, Sareh, Eiben, Gabriele, Ekelund, Ulf, El-Khateeb, Mohammad, El Ati, Jalila, Eldemire-Shearer, Denise, Eliasen, Marie, Elliott, Paul, Engle-Stone, Reina, Enguerran, Macia, Erasmus, Rajiv T., Erbel, Raimund, Erem, Cihangir, Eriksen, Louise, Eriksson, Johan G., Escobedo-de la Pena, Jorge, Eslami, Saeid, Esmaeili, Ali, Evans, Alun, Faeh, David, Fakhretdinova, Albina A., Fall, Caroline H., Faramarzi, Elnaz, Farjam, Mojtaba, Sant'Angelo, Victoria Farrugia, Farzadfar, Farshad, Fattahi, Mohammad Reza, Fawwad, Asher, Felix-Redondo, Francisco J., Ferguson, Trevor S., Fernandes, Romulo A. [UNESP], Fernandez-Berges, Daniel, Ferrante, Daniel, Ferrao, Thomas, Ferrari, Marika, Ferrario, Marco M., Ferreccio, Catterina, Ferrer, Eldridge, Ferrieres, Jean, Figueiro, Thamara Hubler, Fijalkowska, Anna, Fink, Gunther, Fischer, Krista, Foo, Leng Huat, Forsner, Maria, Fouad, Heba M., Francis, Damian K., Franco, Maria do Carmo, Frikke-Schmidt, Ruth, Frontera, Guillermo, Fuchs, Flavio D., Fuchs, Sandra C., Fujiati, Isti I., Fujita, Yuki, Fumihiko, Matsuda, Furusawa, Takuro, Gaciong, Zbigniew, Gafencu, Mihai, Galbarczyk, Andrzej, Galenkamp, Henrike, Galeone, Daniela, Galfo, Myriam, Galvano, Fabio, Gao, Jingli, Garcia-de-la-Hera, Manoli, Garcia-Solano, Marta, Gareta, Dickman, Garnett, Sarah P., Gaspoz, Jean-Michel, Gasull, Magda, Araujo Gaya, Adroaldo Cesar, Gaya, Anelise Reis, Gazzinelli, Andrea, Gehring, Ulrike, Geiger, Harald, Geleijnse, Johanna M., Ghanbari, Ali, Ghasemi, Erfan, Gheorghe-Fronea, Oana-Florentina, Giampaoli, Simona, Gianfagna, Francesco, Gill, Tiffany K., Giovannelli, Jonathan, Gironella, Glen, Giwercman, Aleksander, Gkiouras, Konstantinos, Godos, Justyna, Gogen, Sibel, Goldberg, Marcel, Goldsmith, Rebecca A., Goltzman, David, Gomez, Santiago F., Gomula, Aleksandra, Cordeiro da Silva, Bruna Goncalves, Goncalves, Helen, Gonzalez-Chica, David A., Gonzalez-Gross, Marcela, Gonzalez-Leon, Margot, Gonzalez-Rivas, Juan P., Gonzalez-Villalpando, Clicerio, Gonzalez-Villalpando, Maria-Elena, Gonzalez, Angel R., Gottrand, Frederic, Graca, Antonio Pedro, Graff-Iversen, Sidsel, Grafnetter, Dusan, Grajda, Aneta, Grammatikopoulou, Maria G., Gregor, Ronald D., Grodzicki, Tomasz, Groholt, Else Karin, Grontved, Anders, Grosso, Giuseppe, Gruden, Gabriella, Gu, Dongfeng, Gualdi-Russo, Emanuela, Guallar-Castillon, Pilar, Gualtieri, Andrea, Gudmundsson, Elias F., Gudnason, Vilmundur, Guerrero, Ramiro, Guessous, Idris, Guimaraes, Andre L., Gulliford, Martin C., Gunnlaugsdottir, Johanna, Gunter, Marc J., Guo, Xiu-Hua, Guo, Yin, Gupta, Prakash C., Gupta, Rajeev, Gureje, Oye, Gurzkowska, Beata, Gutierrez-Gonzalez, Enrique, Gutierrez, Laura, Gutzwiller, Felix, Ha, Seongjun, Hadaegh, Farzad, Hadjigeorgiou, Charalambos A., Haghshenas, Rosa, Hakimi, Hamid, Halkjaer, Jytte, Hambleton, Ian R., Hamzeh, Behrooz, Hange, Dominique, Hanif, Abu A. M., Hantunen, Sari, Hao, Jie, Kumar, Rachakulla Hari, Hashemi-Shahri, Seyed Mohammad, Hassapidou, Maria, Hata, Jun, Haugsgjerd, Teresa, He, Jiang, He, Yuan, He, Yuna, Heidinger-Felso, Regina, Heinen, Mirjam, Hejgaard, Tatjana, Hendriks, Marleen Elisabeth, Henrique, Rafael dos Santos, Henriques, Ana, Hernandez Cadena, Leticia, Herrala, Sauli, Herrera, Victor M., Herter-Aeberli, Isabelle, Heshmat, Ramin, Hill, Allan G., Ho, Sai Yin, Ho, Suzanne C., Hobbs, Michael, Holdsworth, Michelle, Homayounfar, Reza, Homs, Clara, Hopman, Wilma M., Horimoto, Andrea R. V. 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Univ Nove Julho, Publ Hlth Agcy Canada, Canarian Hlth Serv, Univ Ind Santander, Assoc Calabrese Epatol, Univ Minho, Fiji Natl Univ, Spanish Nutr Fdn, Publ Hlth Agcy Sweden, Inst Food Sci Natl Res Council, Sitaram Bhartia Inst Sci & Res, Kindergarten Avlonari, Natl Inst Hlth, Catalan Dept Hlth, Biodonostia Hlth Res Inst, Inst Saude Ambiental, South Karelia Social & Hlth Care Dist, McMaster Univ, Hosp Italiano Buenos Aires, Rigshosp, Acad Med Ctr Univ Amsterdam, Ctr Oral Hlth Serv & Res Midnorway, Lagos State Univ, Univ Las Palmas Gran Canaria, Comenius Univ, Natl Ctr Dis Control & Publ Hlth, Nippon Med Sch, Sungkyunkwan Univ, Finnish Inst Occupat Hlth, Publ Hlth Promot & Dev Org, St Vincents Hosp, Nes Municipal, Hlth Polytech Jakarta II Inst, Diponegoro Univ, Univ Bari, Inst Reg Sante Publ, Univ Bordeaux, Oslo Metropolitan Univ, Univ Leuven, Lamprecht & Stamm Sozialforsch & Beratung AG, Univ Bonn, Kalina Malina Kindergarten, Jikei Univ, Fu Jen Catholic Univ, Natl Stat Off, Natl Inst Publ Hlth Natl Inst Hyg, Sci Res Inst Maternal & Child Hlth, Univ Lincoln, Cent Univ Kerala, Amsterdam Publ Hlth Res Inst, Hlth Serv Murcia, Inst Invest Sanitaria Illes Balears, Univ Bologna, Hellen Hlth Fdn, Govt Med Coll, Sefako Makgatho Hlth Sci Univ, Addis Ababa Univ, Univ Ctr Occidental Lisandro Alvarado, Meharry Med Coll, Dokuz Eylul Univ, Univ Tampere, Sabiha Gokcen Ilkokulu, Polytech Inst Porto, Icahn Sch Med Mt Sinai, Univ CEU San Pablo, Univ Miguel Hernandez, Vrije Univ Amsterdam, Sunflower Nursery Sch, North Karelia Ctr Publ Hlth, Univ Witwatersrand, Med Univ Vienna, Cork Inst Technol, Inst Med Res, Xinjiang Med Univ, Shanghai Educ Dev Co Ltd, Rebro Univ, St Georges Univ London, Univ Indonesia, Minist Agr & Rural Affairs, Fudan Univ, Univ Cyprus, Niigata Univ, Int Med Univ, Iran Univ Med Sci, Ctr Diabet & Endocrine Care, Peking Univ First Hosp, Jiangsu Prov Ctr Dis Control & Prevent, Sun Yat Sen Univ, West Kazakhstan Med Univ, Inner Mongolia Med Univ, and Przedszkole 81
Subjects: Life Sciences & Biomedicine - Other Topics, Science & Technology, AUSTRALIAN ADULTS, CHINESE ADULTS, nutritional and metabolic diseases, MALNUTRITION, TRENDS, DOUBLE BURDEN, PREVALENCE, POOLED ANALYSIS, US ADULTS, SYSTEMATIC ANALYSIS, HEALTH, sense organs, skin and connective tissue diseases, Life Sciences & Biomedicine, Biology
Abstract: Made available in DSpace on 2021-06-25T15:08:19Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-03-09 Wellcome Trust From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated how much change in mean body mass index (BMI) explains changes in the prevalence of underweight, obesity, and severe obesity in different regions using data from 2896 population-based studies with 187 million participants. Changes in the prevalence of underweight and total obesity, and to a lesser extent severe obesity, are largely driven by shifts in the distribution of BMI, with smaller contributions from changes in the shape of the distribution. In East and Southeast Asia and sub-Saharan Africa, the underweight tail of the BMI distribution was left behind as the distribution shifted. There is a need for policies that address all forms of malnutrition by making healthy foods accessible and affordable, while restricting unhealthy foods through fiscal and regulatory restrictions. 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State Of Palest, Israel Usmanu Danfodiyo Univ Teaching Hosp, Sokoto, Nigeria Inst Mexicano Seguro Social, Mexico City, DF, Mexico Flinders Univ S Australia, Adelaide, SA, Australia Mahidol Univ, Salaya, Nakhon Pathom, Thailand BRAC James P Grant Sch Publ Hlth, Dhaka, Bangladesh Univ Copenhagen, Copenhagen, Denmark Copenhagen Univ Hosp, Copenhagen, Denmark Food & Nutr Res Inst, Taguig, Philippines Urmia Univ Med Sci, Orumiyeh, Iran Inst Nacl Ciencias Med & Nut, Mexico City, DF, Mexico Univ Amsterdam, Amsterdam, Netherlands Shahrekord Univ Med Sci, Shahrekord, Iran Noncommunicable Dis Res Ctr, Tehran, Iran Univ Oslo, Oslo, Norway Univ Bremen, Bremen, Germany Republican Ctr Hlth Promot, Bishkek, Kyrgyzstan Natl Ctr Diabet Endocrinol & Genet, Amman, Jordan Princess Nourah Bint Abdulrahman Univ, Riyadh, Saudi Arabia Kuwait Inst Sci Res, Kuwait, Kuwait King Abdulaziz Univ, Jeddah, Saudi Arabia Dasman Diabet Inst, Kuwait, Kuwait Luxembourg Inst Hlth, Strassen, Luxembourg Aldara Hosp & Med Ctr, Riyadh, Saudi Arabia King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia Bispebjerg & Frederiksberg Hosp, Copenhagen, Denmark Barcelona Inst Global Hlth CIBERESP, Barcelona, Spain World Hlth Org Reg Off Eastern Mediterranean, Cairo, Egypt Bombay Hosp & Med Res Ctr, Mumbai, Maharashtra, India Res Ctr Social Determinants Hlth, Tehran, Iran UMR CNRS MNHN 7206 Ecoanthropologie, Paris, France Univ Lille, Lille, France Lille Univ Hosp, Lille, France Western Norway Univ Appl Sci, Sogndal, Norway Norwegian Sch Sport Sci, Oslo, Norway Madras Diabet Res Fdn, Chennai, Tamil Nadu, India Zahedan Univ Med Sci, Zahedan, Iran Natl Inst Publ Hlth, Tunis, Tunisia Univ Porto, Inst Publ Hlth, Porto, Portugal Norwegian Inst Publ Hlth, Oslo, Norway Univ Massachusetts, Amherst, MA 01003 USA Abt Associates Inc, Kathmandu, Nepal Univ Iceland, Reykjavik, Iceland Univ Yaounde I, Yaounde, Cameroon Univ Fed Pelotas, Pelotas, RS, Brazil Univ Med 1, Yangon, Myanmar Banska Bystrica Reg Author Publ Hlth, Banska Bystrica, Slovakia Tel Aviv Univ, Tel Aviv, Israel Hebrew Univ Jerusalem, Jerusalem, Israel Univ Porto, Med Sch, Porto, Portugal Neyshabur Univ Med Sci, Neyshabur, Iran Res Inst Endocrine Sci, Tehran, Iran Indian Council Med Res, New Delhi, India Natl Inst Publ Hlth, Copenhagen, Denmark Univ Sci & Technol, Sanaa, Yemen Med Univ Lodz, Lodz, Poland Med Univ Gdansk, Gdansk, Poland Univ Autonoma Madrid CIBERESP, Madrid, Spain Univ Rzeszow, Rzeszow, Poland Univ Palermo, Palermo, Italy Pan Amer Hlth Org, Washington, DC USA Mohammed V Univ Rabat, Rabat, Morocco Univ Pernambuco, Recife, PE, Brazil Baqai Inst Diabetol & Endocrinol, Karachi, Pakistan Univ Fed Santa Catarina, Florianopolis, SC, Brazil Dalhousie Univ, Halifax, NS, Canada Jordan Univ Sci & Technol, Irbid, Jordan Univ Fed Maranhao, Sao Luis, Brazil Farabi Kazakh Natl Univ, Alma Ata, Kazakhstan Univ Coll Dublin, Dublin, Ireland Christian Med Coll & Hosp, Vellore, Tamil Nadu, India Fed Minist Social Affairs Hlth Care & Consumer Pr, Vienna, Austria Cafam Univ Fdn, Bogota, Colombia Kazakh Natl Med Univ, Alma Ata, Kazakhstan Lithuanian Univ Hlth Sci, Kaunas, Lithuania Univ Sao Paulo, Sao Paulo, Brazil BJ Med Coll, Ahmadabad, Gujarat, India Chirayu Med Coll, New Delhi, India Sunder Lal Jain Hosp, Delhi, India Hosp Sick Children, Toronto, ON, Canada Shandong Univ Tradit Chinese Med, Jinan, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China Univ Republica, Montevideo, Uruguay Inst Med Res & Med Plant Studies, Yaounde, Cameroon Ufa Eye Res Inst, Ufa, Russia Nepal Hlth Res Council, Kathmandu, Nepal Univ Montenegro, Niksic, Montenegro Univ Southern Denmark, Copenhagen, Denmark Univ Gothenburg, Gothenburg, Sweden Univ Fed Rio de Janeiro, Rio De Janeiro, Brazil Natl Inst Publ Hlth & Environm, Bilthoven, Netherlands Univ Turin, Turin, Italy UCL, London, England Liverpool John Moores Univ, Liverpool, Merseyside, England Nanyang Technol Univ Singapore, Singapore, Singapore German Inst Human Nutr, Potsdam, Germany Endocrinol Res Ctr, Moscow, Russia Ctr Educ Med & Invest Clin, Buenos Aires, DF, Argentina IRCCS Neuromed, Pozzilli, Italy Toulouse Univ, Sch Med, Toulouse, France Univ Zurich, Zurich, Switzerland Univ Hosp KU Leuven, Leuven, Belgium Flemish Agcy Care & Hlth, Brussels, Belgium Univ Ghent, Ghent, Belgium FrieslandCampina, Amersfoort, Netherlands Univ Cent Venezuela, Caracas, Venezuela Bielefeld Univ, Bielefeld, Germany World Hlth Org Reg Off Europe, Moscow, Russia German Canc Res Ctr, Heidelberg, Germany Fred Hollows Fdn, Auckland, New Zealand Univ Med & Pharm Bucharest, Bucharest, Romania Swansea Univ, Swansea, W Glam, Wales Univ Coll Copenhagen, Copenhagen, Denmark Inst Publ Hlth, Tirana, Albania Munster Technol Univ, Cork, Ireland Univ La Laguna, Tenerife, Spain Univ Malta, Msida, Malta Vanderbilt Univ, 221 Kirkland Hall, Nashville, TN 37235 USA Minist Hlth, Tongatapu, Tonga Canadian Fitness & Lifestyle Res Inst, Ottawa, ON, Canada Hosp Santa Maria, Lisbon, Portugal Istanbul Univ Cerrahpasa, Istanbul, Turkey Univ Fed Juiz de Fora, Juiz De Fora, Brazil Minist Publ Hlth, Asuncion, Paraguay Natl Inst Publ Hlth, Prague, Czech Republic Gaetano Fucito Hosp, Mercato San Severino, Italy Univ Groningen, Groningen, Netherlands Karolinska Inst, Huddinge, Sweden Ctr Estudios Nutr Infantil, Buenos Aires, DF, Argentina Univ Porto, Porto, Portugal Univ Zaragoza, Zaragoza, Spain Santiago de Compostela Univ, Santiago De Compostela, Spain Minist Hlth, Ankara, Turkey Council Agr Res & Econ, Rome, Italy Fed Univ Rio Grande, Rio Grande, Brazil India Diabet Res Fdn, Chennai, Tamil Nadu, India Duke NUS Med Sch, Singapore, Singapore ICMR Natl Inst Med Stat, New Delhi, India Singapore Eye Res Inst, Singapore, Singapore Acad Sinica, Taipei, Taiwan Capital Inst Pediat, Beijing, Peoples R China Duke Univ, Durham, NH USA Kailuan Gen Hosp, Tangshan, Peoples R China Univ Oxford, Oxford, England Ahvaz Jundishapur Univ Med Sci, Ahvaz, Iran Gertner Inst Epidemiol & Hlth Policy Res, Ramat Gan, Israel Natl Ctr Publ Hlth & Anal, Sofia, Bulgaria Univ Fribourg, Fribourg, Switzerland Minist Hlth & Welf, Taipei, Taiwan CIBER Epidemiol & Salud Publ, Murcia, Spain Univ Southern Denmark, Odense, Denmark Univ Estadual Paulista, Presidente Prudente, Brazil Med Univ Silesia, Katowice, Poland Charles Univ Prague, Prague, Czech Republic Primary Hlth Care, Floriana, Malta Carol Davila Univ Med & Pharm, Bucharest, Romania Katholieke Univ Leuven, Leuven, Belgium STAT Canada, Ottawa, ON, Canada UMR CNRS MNHN 7206 Ecoanthropol, Marseille, France Agcy Prevent & Social Med, Bregenz, Austria Univ Southampton, Southampton, Hants, England Inst Pasteur, Lille, France Malawi Epidemiol & Intervent Res Unit, Lilongwe, Malawi CIBEROBN, Madrid, Spain Univ Debrecen, Debrecen, Hungary Univ Med & Pharm Carol Davila, Bucharest, Romania Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil CNR, Reggio Di Calabria, Italy Eftimie Murgu Univ Resita, Resita, Romania Spanish Agcy Food Safety & Nutr, Madrid, Spain Indian Stat Inst, Kolkata, India Tabriz Hlth Serv Management Res Ctr, Tabriz, Iran Geneva Univ Hosp, Geneva, Switzerland Sciensano, Brussels, Belgium Univ Med Ctr Groningen, Groningen, Netherlands Natl Res Ctr Prevent Med, Moscow, Russia Innovating Hlth Int, Port Au Prince, Haiti Univ Montreal, Montreal, PQ, Canada French Natl Res Inst Sustainable Dev, Montpellier, France French Publ Hlth Agcy, St Maurice, France Mediterranea Cardioctr, Naples, Italy Univ Vale Rio dos Sinos, Sao Leopoldo, Brazil Natl Inst Hyg Epidemiol & Microbiol, Havana, Cuba Natl Council Sci & Tech Res, Buenos Aires, DF, Argentina Minist Hlth & Med Educ, Tehran, Iran Univ Novi Sad, Novi Sad, Serbia Natl Inst Nutr, Hanoi, Vietnam Univ Queensland, Brisbane, Qld, Australia Ist Super Sanita, Rome, Italy Univ Cuenca, Cuenca, Ecuador Helmholtz Zentrum Munchen, Munich, Germany Univ Tehran Med Sci, Tehran, Iran Minist Sante & Hyg Publ, Abidjan, Cote Ivoire Univ Hosp Dusseldorf, Dusseldorf, Germany Natl Inst Cardiol, Warsaw, Poland Beijing Ctr Dis Prevent & Control, Beijing, Peoples R China UMI 3189 ESS, Marseille, France Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA Scuola Super Sant Anna, Pisa, Italy Univ Latvia, Riga, Latvia Minist Hlth & Med Serv, Gizo, Solomon Islands Hormozgan Univ Med Sci, Bandar Abbas, Iran Univ Benin, Benin, Nigeria Univ Skovde, Skovde, Sweden Natl Inst Nutr & Food Technol, Tunis, Tunisia Univ West Indies, Kingston, Jamaica Univ Calif Davis, Davis, CA 95616 USA Univ Stellenbosch, Cape Town, South Africa Univ Duisburg Essen, Duisburg, Germany Karadeniz Tech Univ, Trabzon, Turkey Univ Helsinki, Helsinki, Finland Mashhad Univ Med Sci, Mashhad, Razavi Khorasan, Iran Rafsanjan Univ Med Sci, Rafsanjan, Iran Queens Univ Belfast, Belfast, Antrim, North Ireland Tabriz Univ Med Sci, Tabriz, Iran Fasa Univ Med Sci, Fasa, Iran Shiraz Univ Med Sci, Shiraz, Iran Baqai Med Univ, Karachi, Pakistan Ctr Salud Villanueva Norte, Badajoz, Spain Hosp Don Benito Villanueva Serena, Badajoz, Spain Minist Hlth, Buenos Aires, DF, Argentina Univ Insubria, Varese, Italy Pontificia Univ Catolica Chile, Santiago, Chile Inst Mother & Child Hlth, Warsaw, Poland Swiss Trop & Publ Hlth Inst, Basel, Switzerland Univ Tartu, Tartu, Estonia Univ Sains Malaysia, Kota Baharu, Kelantan, Malaysia Umea Univ, Umea, Sweden Univ Fed Sao Paulo, Sao Paulo, Brazil Hosp Univ Son Espases, Palma De Mallorca, Spain Hosp Clin Porto Alegre, Porto Alegre, RS, Brazil Univ Sumatera Utara, Medan, Indonesia Kindai Univ, Osaka, Japan Kyoto Univ, Kyoto, Japan Med Univ Warsaw, Warsaw, Poland Jagiellonian Univ, Med Coll, Krakow, Poland Minist Salute DG Prevenz Sanit, Rome, Italy Univ Catania, Catania, Italy CIBER Epidemiol & Salud Publ, Alicante, Spain Africa Hlth Res Inst, Mtubatuba, South Africa Univ Geneva, Med Sch, Geneva, Switzerland CIBER Epidemiol & Salud Publ, Barcelona, Spain Univ Fed Minas Gerais, Belo Horizonte, MG, Brazil Univ Utrecht, Utrecht, Netherlands Wageningen Univ, Wageningen, Netherlands Univ Adelaide, Adelaide, SA, Australia Lund Univ, Lund, Sweden Aristotle Univ Thessaloniki, Thessaloniki, Greece Inst Natl Sante & Rech Med, Villejuif, France Minist Hlth, Jerusalem, Israel McGill Univ, Montreal, PQ, Canada Gasol Fdn, Barcelona, Spain PASs Hirszfeld Inst Immunol & Expt Therapy, Wroclaw, Poland Univ Politecn Madrid, Madrid, Spain St Annes Univ Hosp, Brno, Czech Republic Natl Inst Publ Hlth, Cuernavaca, Morelos, Mexico Ctr Estudios Diabet AC, Mexico City, DF, Mexico Univ Autonoma Santo Domingo, Santo Domingo, Dominican Rep Minist Hlth, Lisbon, Portugal Inst Clin & Expt Med, Prague, Czech Republic Childrens Mem Hlth Inst, Warsaw, Poland Natl Ctr Cardiovasc Dis, Beijing, Peoples R China Univ Ferrara, Ferrara, Italy Author Sanitaria San Marino, San Marino, CA USA Iceland Heart Assoc, Kopavogur, Iceland Univ Icesi, Cali, Colombia Univ Estadual Montes Claros, Montes Claros, MG, Brazil Kings Coll London, London, England Int Agcy Res Canc, Lyon, France Capital Med Univ, Beijing, Peoples R China Capital Med Univ, Beijing Tongren Hosp, Beijing, Peoples R China Healis Sekhsaria Inst Publ Hlth, Navi Mumbai, India Eternal Heart Care Ctr & Res Inst, Jaipur, Rajasthan, India Univ Ibadan, Ibadan, Nigeria Inst Clin Effectiveness & Hlth Policy, Buenos Aires, DF, Argentina Natl Hlth Insurance Serv, Wonju, South Korea Prevent Metab Disorders Res Ctr, Tehran, Iran Res & Educ Inst Child Hlth, Nicosia, Cyprus Danish Canc Soc Res Ctr, Copenhagen, Denmark Univ West Indies, Cave Hill, Barbados Kermanshah Univ Med Sci, Kermanshah, Iran Univ Eastern Finland, Kuopio, Finland Beijing Inst Ophthalmol, Beijing, Peoples R China Int Hellen Univ, Thessaloniki, Greece Kyushu Univ, Fukuoka, Japan Univ Bergen, Bergen, Norway Tulane Univ, New Orleans, LA USA Natl Res Inst Hlth & Family Planning, Beijing, Peoples R China Chinese Ctr Dis Control & Prevent, Beijing, Peoples R China Univ Pecs, Pecs, Hungary Danish Hlth Author, Copenhagen, Denmark Joep Lange Inst, Amsterdam, Netherlands Univ Fed Pernambuco, Recife, PE, Brazil Oulu Univ Hosp, Oulu, Finland Univ Autonoma Bucaramanga, Bucaramanga, Colombia Swiss Fed Inst Technol, Zurich, Switzerland Chron Dis Res Ctr, Tehran, Iran Univ Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong, Hong Kong, Peoples R China Univ Western Australia, Perth, WA, Australia Kingston Hlth Sci Ctr, Kingston, ON, Canada Fdn Oftalmol Santander, Bucaramanga, Colombia Univ Oran 1, Oran, Algeria Nay Pyi Taw, Independent Publ Hlth Specialist, Nay Pyi Taw, Myanmar Minist Hlth & Sports, Nay Pyi Taw, Myanmar Peking Univ, Beijing, Peoples R China Natl Inst Publ Hlth, Bucharest, Romania Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands Amer Univ Beirut, Beirut, Lebanon CIBER Epidemiol & Salud Publ, San Sebastian, Spain Cairo Univ, Cairo, Egypt Erasmus MC, Rotterdam, Netherlands Med Univ Varna, Varna, Bulgaria Univ Tokyo, Tokyo, Japan Deakin Univ, Geelong, Vic, Australia Tokyo Metropolitan Inst Gerontol, Tokyo, Japan Hadassah Univ Med Ctr, Jerusalem, Israel Norwegian Univ Sci & Technol, Trondheim, Norway Univ Melbourne, Melbourne, Vic, Australia Sports Univ Tirana, Tirana, Albania Univ Hosp Ctr Zagreb, Zagreb, Croatia Univ Zagreb, Sch Med, Zagreb, Croatia Heart Fdn, Melbourne, Vic, Australia Guangzhou 12th Hosp, Guangzhou, Peoples R China Univ Eugenio Maria Hostos, Santo Domingo, Dominican Rep Simon Fraser Univ, Burnaby, BC, Canada Inst Mol & Clin Ophthalmol Basel, Basel, Switzerland Univ New South Wales, Sydney, NSW, Australia World Hlth Org Country Off, Delhi, India Guilan Univ Med Sci, Rasht, Iran Inst Publ Hlth, Belgrade, Serbia Univ Opole, Opole, Poland Finnish Inst Hlth & Welf, Helsinki, Finland Gulu Univ, Gulu, Uganda Univ Crete, Iraklion, Greece Sri Venkateswara Univ, Tirupati, Andhra Pradesh, India Sree Chitra Tirunal Inst Med Sci & Technol, Trivandrum, Kerala, India Hellen Med Assoc Obes, Athens, Greece Natl & Kapodistrian Univ Athens, Athens, Greece Maharajgunj Med Campus, Kathmandu, Nepal Aarhus Univ, Aarhus, Denmark Johns Hopkins Bloomberg Sch Publ Hlth, Baltimore, MD USA Pennington Biomed Res Ctr, Baton Rouge, LA USA Natl Inst Epidemiol, Chennai, Tamil Nadu, India Univ Munster, Munster, Germany Israel Ctr Dis Control, Ramat Gan, Israel Res Inst Primordial Prevent Noncommunicable Dis, Esfahan, Iran Amsterdam UMC Publ Hlth Res Inst, Amsterdam, Netherlands South African Med Res Council, Cape Town, South Africa Kyrgyz State Med Acad, Bishkek, Kyrgyzstan Res Inst Child Nutr, Dortmund, Germany Shahid Beheshti Univ Med Sci, Tehran, Iran Univ Cambridge, Cambridge, England Mazandaran Univ Med Sci, Sari, Iran Hypertens Res Ctr, Esfahan, Iran Med Univ Innsbruck, Innsbruck, Austria Muhimbili Univ Hlth & Allied Sci, Dar Es Salaam, Tanzania Yonsei Univ, Coll Med, Seoul, South Korea Natl Canc Ctr, Goyang Si, South Korea Univ Coll South Denmark, Haderslev, Denmark Stat Austria, Vienna, Austria BP Koirala Inst Hlth Sci, Dharan, Nepal Univ Vienna, Vienna, Austria Tartu Univ Clin, Tartu, Estonia Kansai Med Univ, Hirakata, Osaka, Japan Hungarian Sch Sport Federat, Budapest, Hungary Minist Hlth & Qual Life, Port Louis, Mauritius Univ Hosp Ulm, Ulm, Germany North West Univ, Potchefstroom, South Africa Univ Jyvaskyla, Jyvaskyla, Finland Inst Publ Hlth, Podgorica, Montenegro Amrita Inst Med Sci, Cochin, Kerala, India Inst Endocrinol, Prague, Czech Republic All India Inst Med Sci, New Delhi, India African Populat & Hlth Res Ctr, Nairobi, Kenya Hanoi Univ Publ Hlth, Hanoi, Vietnam Hassan First Univ Settat, Settat, Morocco Minist Hlth, Algiers, Algeria Harokopio Univ, Athens, Greece Sahlgrens Acad, Gothenburg, Sweden Endocrinol & Metab Res Ctr, Tehran, Iran Univ Publ Hlth, Yangon, Myanmar Int Food Policy Res Inst, Dakar, Senegal Natl Univ Singapore, Singapore, Singapore Hong Kong Polytech Univ, Hong Kong, Peoples R China Tampere Univ Hosp, Tampere, Finland Univ Douala, Douala, Cameroon Univ Cape Town, Cape Town, South Africa Natl Inst Hlth Dev, Tallinn, Estonia West Virginia Univ, Morgantown, WV 26506 USA Oswaldo Cruz Fdn Rene Rachou Res Inst, Belo Horizonte, MG, Brazil Natl Taiwan Univ, Taipei, Taiwan Univ Chinese Acad Sci, Shanghai, Peoples R China Uppsala Univ, Uppsala, Sweden Taipei Med Univ, Taipei, Taiwan Sports Med Ctr Minho, Braga, Portugal Univ San Martin Porres, Lima, Peru Consejeria Sanidad Junta Castilla & Leon, Valladolid, Spain Univ Fed Ciencias Saude Porto Alegre, Porto Alegre, RS, Brazil Norrbotten Cty Council, Lulea, Sweden Ilembula Lutheran Hosp, Ilembula, Iran Univ Fed Ouro Preto, Ouro Preto, Brazil Univ Coimbra, Coimbra, Portugal Coimbra Univ Hosp Ctr, Coimbra, Portugal Inst Neurosci Natl Res Council, Padua, Italy Baker Heart & Diabet Inst, Melbourne, Vic, Australia Agr Univ Athens, Athens, Greece Hosp Israelita Albert Einstein, Sao Paulo, Brazil SB RAS Fed Res Ctr Inst Cytol & Genet, Novosibirsk, Russia Univ Otago, Dunedin, New Zealand Univ Padua, Padua, Italy Hellen Mediterranean Univ, Siteia, Greece Loughborough Univ, Loughborough, Leics, England Minist Hlth, Nicosia, Cyprus Lausanne Univ Hosp, Lausanne, Switzerland Escola Nacl Saude Publ Sergio Arouca, Rio De Janeiro, Brazil CIBERCV, Madrid, Spain Mary Immaculate Coll, Limerick, Ireland Emory Univ, Atlanta, GA 30322 USA Hungarian Soc Sports Med, Budapest, Hungary Paracelsus Med Univ, Salzburg, Austria Univ Estadual Centro Oeste, Guarapuava, Brazil Sherikashmir Inst Med Sci, Srinagar, India UiT Arctic Univ Norway, Tromso, Norway ICMR Natl Ctr Dis Informat & Res, Bengaluru, India Cape Peninsula Univ Technol, Cape Town, South Africa Brown Univ, Providence, RI 02912 USA London Sch Hyg & Trop Med, London, England Univ Edinburgh, Edinburgh, Midlothian, Scotland Shahid Sadoughi Univ Med Sci, Tehran, Iran Inst Natl Sante & Rech Med, Lille, France Robert Koch Inst, Berlin, Germany Univ Lisbon, Lisbon, Portugal Womens Social & Hlth Studies Fdn, Trivandrum, Kerala, India Democritus Univ, Alexandroupolis, Greece Grigore T Popa Univ Med & Pharm, Iasi, Romania Univ Firenze, Florence, Italy Ain Shams Univ, Cairo, Egypt Isfahan Cardiovasc Res Ctr, Esfahan, Iran Univ Strasbourg, Strasbourg, France Mulago Hosp, Kampala, Uganda Univ San Carlos, Guatemala City, Guatemala Univ Limpopo, Sovenga, South Africa Univ Med Sci Cienfuegos, Cienfuegos, Cuba Royal Coll Surgeons Ireland, Dublin, Ireland Trobe Univ, Melbourne, Vic, Australia Int Inst Mol & Cell Biol, Warsaw, Poland Inst Conmemorat Gorgas Estudios Salud, Panama City, Panama World Hlth Org Country Off, Lilongwe, Malawi Dept Publ Hlth, Nay Pyi Taw, Myanmar Univ Brescia, Brescia, Italy Minist Hlth & Social Protect, Dushanbe, Tajikistan Univ Limerick, Limerick, Ireland Croatian Inst Publ Hlth, Zagreb, Croatia Univ Kebangsaan Malaysia, Kuala Lumpur, Malaysia Bushehr Univ Med Sci, Bushehr, Iran Ulm Univ, Ulm, Germany Dept Stat, Kuala Lumpur, Malaysia Kobe Univ, Kobe, Hyogo, Japan Suraj Eye Inst, Nagpur, Maharashtra, India UNICEF, Yaounde, Cameroon Univ Med Greifswald, Greifswald, Germany Karolinska Inst, Stockholm, Sweden Natl Inst Hyg & Epidemiol, Hanoi, Vietnam Univ Med & Pharm Ho Chi Minh City, Ho Chi Minh City, Vietnam Hanoi Med Univ, Hanoi, Vietnam LifeDoc Hlth, Memphis, TN USA Heartfile, Islamabad, Pakistan Eastern Mediterranean Publ Hlth Network, Amman, Jordan Univ Manchester, Manchester, Lancs, England State Univ Med & Pharm, Kishinev, Moldova Tachikawa Gen Hosp, Nagaoka, Niigata, Japan Korea Ctr Dis Control & Prevent, Cheongju, South Korea Japan Wildlife Res Ctr, Tokyo, Japan Istanbul Univ, Istanbul, Turkey Minist Hlth, Bandar Seri Begawan, Brunei Univ Fed Parana, Curitiba, Parana, Brazil Univ Madeira, Funchal, Portugal Univ Puerto Rico, San Juan, PR 00936 USA Ctr Clin Res & Prevent, Glostrup, Denmark MRC Lifecourse Epidemiol Unit, Southampton, Hants, England Kwame Nkrumah Univ Sci & Technol, Kumasi, Ghana UniSante, Lausanne, Switzerland Inst Canc Res, Prevent & Clin Network, Florence, Italy Univ Wisconsin, Madison, WI USA Heidelberg Univ, Heidelberg, Germany IRCCS Ente Osped Specializzato Gastroenterol S de, Bari, Italy Zayed Univ, Abu Dhabi, U Arab Emirates Catholic Univ Daegu, Daegu, South Korea Univ Med Pharm Sci & Technol Targu Mures, Targu Mures, Romania Jivandeep Hosp, Anand, Gujarat, India South African Med Res Council, Durban, South Africa Natl Dent Care Ctr Singapore, Singapore, Singapore Univ Malaga, Malaga, Spain Univ Hosp Varese, Varese, Italy Vietnam Natl Heart Inst, Hanoi, Vietnam Clin Med Avanzada Dr Abel Gonzalez, Santo Domingo, Dominican Rep Leibniz Inst Prevent Res & Epidemiol BIPS, Bremen, Germany Univ Sarajevo, Sarajevo, Bosnia & Herceg Cardiovasc Prevent Ctr Udine, Udine, Italy Pisa Univ Hosp, Pisa, Italy Minist Hlth & Med Serv, Honiara, Solomon Islands Publ Hlth Agcy Catalonia, Barcelona, Spain Inst Hosp del Mar Invest Med, Barcelona, Spain Ardabil Univ Med Sci, Ardebil, Iran Ctr Dis Prevent & Control, Riga, Latvia Alborz Univ Med Sci, Karaj, Iran Minist Hlth, Hanoi, Vietnam Pure Earth, Dhaka, Bangladesh Inst Epidemiol Dis Control & Res, Dhaka, Bangladesh Univ Turku, Turku, Finland Inst Univ Invest Atenc Primaria Jordi Gol, Girona, Spain Univ Putra Malaysia, Serdang, Malaysia Univ Malaya, Kuala Lumpur, Malaysia Sotiria Hosp, Athens, Greece Univ Valencia, Valencia, Spain Univ Philippines, Manila, Philippines Slovak Acad Sci, Bratislava, Slovakia Nutr Res Fdn, Barcelona, Spain Minas Gerais State Secretariat Hlth, Belo Horizonte, MG, Brazil CS S Agustin Ibsalut, Palma De Mallorca, Spain Amsterdam Inst Global Hlth & Dev, Amsterdam, Netherlands Natl Inst Hlth Doutor Ricardo Jorge, Lisbon, Portugal Univ Nove Julho, Sao Paulo, Brazil Publ Hlth Agcy Canada, Ottawa, ON, Canada Canarian Hlth Serv, Tenerife, Spain Univ Ind Santander, Bucaramanga, Colombia Assoc Calabrese Epatol, Reggio Di Calabria, Italy Univ Minho, Braga, Portugal Fiji Natl Univ, Suva, Fiji Spanish Nutr Fdn, Madrid, Spain Publ Hlth Agcy Sweden, Stockholm, Sweden Inst Food Sci Natl Res Council, Avellino, Italy Sitaram Bhartia Inst Sci & Res, New Delhi, India Kindergarten Avlonari, Evia, Greece Natl Inst Hlth, Lima, Peru Minist Hlth, Jakarta, Indonesia Catalan Dept Hlth, Barcelona, Spain Biodonostia Hlth Res Inst, San Sebastian, Spain Inst Saude Ambiental, Lisbon, Portugal South Karelia Social & Hlth Care Dist, Lappeenranta, Finland McMaster Univ, Hamilton, ON, Canada Natl Canc Ctr, Tokyo, Japan Univ Sao Paulo Clin Hosp, Sao Paulo, Brazil Hosp Italiano Buenos Aires, Buenos Aires, DF, Argentina Rigshosp, Copenhagen, Denmark Acad Med Ctr Univ Amsterdam, Amsterdam, Netherlands Ctr Oral Hlth Serv & Res Midnorway, Trondheim, Norway Lagos State Univ, Coll Med, Lagos, Nigeria Univ Las Palmas Gran Canaria, Las Palmas Gran Canaria, Spain Comenius Univ, Bratislava, Slovakia Natl Ctr Dis Control & Publ Hlth, Tbilisi, Georgia Nippon Med Sch, Tokyo, Japan Sungkyunkwan Univ, Seoul, South Korea Finnish Inst Occupat Hlth, Helsinki, Finland Publ Hlth Promot & Dev Org, Kathmandu, Nepal St Vincents Hosp, Sydney, NSW, Australia Nes Municipal, Aarnes, Norway Hlth Polytech Jakarta II Inst, Jakarta, Indonesia Diponegoro Univ, Semarang, Indonesia Univ Bari, Bari, Italy Inst Reg Sante Publ, Ouidah, Benin Univ Bordeaux, Bordeaux, France Oslo Metropolitan Univ, Oslo, Norway Inst Publ Hlth, Skopje, North Macedonia Univ Leuven, Leuven, Belgium Lamprecht & Stamm Sozialforsch & Beratung AG, Zurich, Switzerland Inst Natl Sante & Rech Med, Nancy, France Univ Bonn, Bonn, Germany Sotiria Hosp, Sotiria, Greece Kalina Malina Kindergarten, Pazardjik, Bulgaria Jikei Univ, Sch Med, Tokyo, Japan Fu Jen Catholic Univ, Taipei, Taiwan Natl Stat Off, Praia, Cape Verde Natl Inst Publ Hlth Natl Inst Hyg, Warsaw, Poland Deakin Univ, Sydney, NSW, Australia Sci Res Inst Maternal & Child Hlth, Ashkhabad, Turkmenistan Univ Lincoln, Lincoln, England Minist Hlth, Amman, Jordan UNICEF, Niamey, Niger Cent Univ Kerala, Kasaragod, India Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands Hlth Serv Murcia, Murcia, Spain Inst Invest Sanitaria Illes Balears, Menorca, Spain Univ Bologna, Bologna, Italy Hellen Hlth Fdn, Athens, Greece Govt Med Coll, Bhavnagar, Gujarat, India Sefako Makgatho Hlth Sci Univ, Ga Rankuwa, South Africa Addis Ababa Univ, Addis Ababa, Ethiopia Minist Hlth, Wellington, New Zealand Univ Ctr Occidental Lisandro Alvarado, Barquisimeto, Venezuela Meharry Med Coll, Nashville, TN 37208 USA Dokuz Eylul Univ, Izmir, Turkey Univ Tampere, Tays Eye Ctr, Tampere, Finland Sabiha Gokcen Ilkokulu, Ankara, Turkey Polytech Inst Porto, Porto, Portugal Icahn Sch Med Mt Sinai, New York, NY 10029 USA Univ CEU San Pablo, Madrid, Spain CNR, Pisa, Italy Univ Miguel Hernandez, Alicante, Spain Vrije Univ Amsterdam, Amsterdam, Netherlands Sunflower Nursery Sch, Craiova, Romania North Karelia Ctr Publ Hlth, Joensuu, Finland Univ Witwatersrand, Johannesburg, South Africa Med Univ Vienna, Vienna, Austria Cork Inst Technol, Cork, Ireland Inst Med Res, Kuala Lumpur, Malaysia Xinjiang Med Univ, Urumqi, Peoples R China Shanghai Educ Dev Co Ltd, Shanghai, Peoples R China Minist Hlth, Auckland, New Zealand Rebro Univ, Rebro, Sweden St Georges Univ London, London, England Univ Indonesia, Jakarta, Indonesia Minist Agr & Rural Affairs, Inst Food & Nutr Dev, Beijing, Peoples R China Fudan Univ, Childrens Hosp, Shanghai, Peoples R China Univ Cyprus, Nicosia, Cyprus Niigata Univ, Niigata, Japan Int Med Univ, Shah Alam, Selangor, Malaysia Hellen Mediterranean Univ, Iraklion, Greece Iran Univ Med Sci, Tehran, Iran Ctr Diabet & Endocrine Care, Srinagar, India Peking Univ First Hosp, Beijing, Peoples R China Jiangsu Prov Ctr Dis Control & Prevent, Nanjing, Peoples R China Sun Yat Sen Univ, Guangzhou, Peoples R China West Kazakhstan Med Univ, Aktobe, Kazakhstan Inner Mongolia Med Univ, Hohhot, Peoples R China Przedszkole 81, Warsaw, Poland Univ Estadual Paulista, Presidente Prudente, Brazil
Published: 2021

5. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

Author: Igor Rudan, Daniel I. Chasman, Helena Schmidt, Stefan Herms, Sharon L.R. Kardia, Oliver Stegle, Alison Pattie, Jenna Price, Gerardo Heiss, Karen A. Mather, L. J. Launer, Johan G. Eriksson, Christopher Oldmeadow, Ian Ford, Saira Saeed Mirza, Alan F. Wright, Ozren Polasek, Joshua M. Shulman, Maria K. Jonsdottir, André G. Uitterlinden, Rodney J. Scott, Kurt Lohman, Anita L. DeStefano, Peter W. Schofield, Perminder S. Sachdev, Stefania Bandinelli, Johan Wouter Jukema, John M. Starr, Rudolf S N Fehrmann, Y. C. Hsieh, William M. Meeks, Paul M. Ridker, R.G.J. Westendorp, Le Yu, J. C. van Swieten, Vilmundur Gudnason, Myriam Fornage, Melissa Garcia, Carla A. Ibrahim-Verbaas, James F. Wilson, Jean-Charles Lambert, Qiong Yang, Laura H. Coker, Stella Trompet, Lina Zgaga, Jennifer A. Smith, David J. Llewellyn, Nicole A. Kochan, Ben A. Oostra, Katja Petrovic, Peter Hoffmann, Qi Sun, James T. Becker, Najaf Amin, Vincent Chouraki, Brendan M. Buckley, D C Liewald, Jun Ding, Christiane Wolf, P. L. DeJager, Reinhold Schmidt, Chloe Fawns-Ritchie, Stéphanie Debette, Jing Wang, J. C. Bis, Nicola J. Armstrong, David J. Stott, Albert Hofman, Nazanin Karbalai, G. Eiriksdottir, Luke C. Pilling, D. S. Knopman, Maaike Schuur, Alexa S. Beiser, Annette L. Fitzpatrick, David A. Bennett, Aarno Palotie, Lude Franke, Sven Cichon, Mirna Kirin, Markus M. Nöthen, Thomas H. Mosley, Lynda M. Rose, Alan J. Gow, Caroline Hayward, Lori B. Chibnik, Ian J. Deary, Albert V. Smith, Jan Bressler, T.B. Harris, Stephen T. Turner, David J. Porteous, C M van Duijn, M. A. Ikram, Elizabeth G. Holliday, Mike A. Nalls, Luigi Ferrucci, Sudha Seshadri, Francine Grodstein, Marlene C. W. Stewart, Philip A. Wolf, Alexander Teumer, P.E. Slagboom, Jerome I. Rotter, Blair H. Smith, Juha Karjalainen, Susan M. Resnick, A.J.M. de Craen, Toshiko Tanaka, Alan D. Penman, Hans-Jörgen Grabe, Gary Davies, Oscar L. Lopez, Yongmei Liu, Kristine Yaffe, Veronique Vitart, Stela McLachlan, Katri Räikkönen, Rebecca F. Gottesman, Rhoda Au, Lynne J. Hocking, Carsten Oliver Schmidt, John Attia, Bruce M. Psaty, Wei Zhao, Jari Lahti, Epidemiology, Neurology, Clinical Genetics, Internal Medicine, [ 1 ] Erasmus Univ, Med Ctr, Dept Epidemiol, Genet Epidemiol Unit, Rotterdam, Netherlands [ 2 ] Erasmus Univ, Med Ctr, Dept Neurol, Rotterdam, Netherlands [ 3 ] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Human Genet Ctr, Houston, TX 77030 USA [ 4 ] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA [ 5 ] Univ Bordeaux, Epidemiol & Biostat, U897, INSERM, Bordeaux, France [ 6 ] Bordeaux Univ Hosp, Dept Neurol, Bordeaux, France [ 7 ] Iceland Heart Assoc, Kopavogur, Iceland [ 8 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 9 ] Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA [ 10 ] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland [ 11 ] Leiden Univ, Med Ctr, Dept Cardiol, Leiden, Netherlands [ 12 ] Leiden Univ, Med Ctr, Dept Gerontol & Geriatr, Leiden, Netherlands [ 13 ] Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA [ 14 ] Max Planck Inst Psychiat, RG Stat Genet, Munich, Germany [ 15 ] Brigham & Womens Hosp, Div Neurol, Program Translat Neuropsychiat Gen, Boston, MA 02115 USA [ 16 ] Wake Forest Sch Med, Dept Epidemiol, Winston Salem, NC USA [ 17 ] Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland [ 18 ] Univ Edinburgh, Ctr Populat Hlth Sci, Edinburgh, Midlothian, Scotland [ 19 ] Med Univ & Gen Hosp Graz, Dept Neurol, Graz, Austria [ 20 ] Univ Split, Dept Publ Hlth, Split, Croatia [ 21 ] Trintiy Coll Dublin, Dept Publ Hlth & Primary Care, Dublin, Ireland [ 22 ] Res Ctr Juelich, Inst Neurosci & Med INM1, Julich, Germany [ 23 ] Univ Basel, Dept Biomed, Div Med Genet, Basel, Switzerland [ 24 ] Univ Bonn, Inst Human Genet, Life & Brain Res Ctr, Dept Genom, Bonn, Germany [ 25 ] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands [ 26 ] Univ Helsinki, Inst Behav Sci, Helsinki, Finland [ 27 ] Folkhalsan Res Ctr, Helsinki, Finland [ 28 ] Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter, Devon, England [ 29 ] Univ Med Greifswald, Inst Community Med, Greifswald, Germany [ 30 ] Univ New S Wales, UNSW Med, Sch Psychiat, Ctr Hlth Brain Ageing, Sydney, NSW, Australia [ 31 ] Univ Lille Nord France, Inst Pasteur Lille, U1167, INSERM, Lille, France [ 32 ] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA [ 33 ] Harvard Univ, Sch Med, Boston, MA USA [ 34 ] NIA, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA [ 35 ] Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA [ 36 ] Univ Newcastle, Hunter Med Res Inst, Newcastle, NSW 2300, Australia [ 37 ] Univ Newcastle, Fac Hlth, Newcastle, NSW 2300, Australia [ 38 ] Univ Dundee, Med Res Inst, Dundee, Scotland [ 39 ] NHLBI, Framingham Heart Study, Framingham, MA USA [ 40 ] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA [ 41 ] Erasmus Univ, Med Ctr, Dept Epidemiol, Rotterdam, Netherlands [ 42 ] Netherlands Consortium Hlth Ageing, Leiden, Netherlands [ 43 ] NIA, Lab Epidemiol & Populat Sci, Bethesda, MD 20892 USA [ 44 ] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland [ 45 ] Wake Forest Sch Med, Div Publ Hlth Sci & Neurol, Winston Salem, NC USA [ 46 ] Max Planck Inst Intelligent Syst, Max Planck Inst Dev Biol, Tubingen, Germany [ 47 ] Univ Pittsburgh, Dept Neurol, Pittsburgh, PA 15260 USA [ 48 ] Univ Med Greifswald, Interfaculty Inst Genet & Funct Genom, Greifswald, Germany [ 49 ] Univ Glasgow, Robertson Ctr Biostat, Glasgow, Lanark, Scotland [ 50 ] Univ Pittsburgh, Dept Psychiat, Pittsburgh, PA USA [ 51 ] Univ Pittsburgh, Dept Psychol, Pittsburgh, PA 15260 USA [ 52 ] Landspitali Hosp, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital [ 53 ] NIA, Lab Neurogenet, Bethesda, MD 20892 USA [ 54 ] Mayo Clin, Dept Internal Med, Div Nephrol & Hypertens, Rochester, MN USA [ 55 ] Univ Calif San Francisco, Dept Psychiat, San Francisco, CA USA [ 56 ] Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA [ 57 ] Univ Calif San Francisco, Dept Epidemiol, San Francisco, CA USA [ 58 ] San Francisco VA Med Ctr, San Francisco, CA USA [ 59 ] Mayo Clin, Dept Neurol, Rochester, MN USA [ 60 ] Univ Mississippi, Med Ctr, Dept Med, Div Geriatr, Jackson, MS 39216 USA [ 61 ] Univ N Carolina, Dept Epidemiol, Gillings Sch Global Publ Hlth, Chapel Hill, NC USA [ 62 ] Univ Newcastle, Fac Hlth, Sch Med & Publ Hlth, Newcastle, NSW 2300, Australia [ 63 ] NIA, Translat Gerontol Branch, Baltimore, MD 21224 USA [ 64 ] Univ Glasgow, Dept Cardiovasc & Med Sci, Glasgow, Lanark, Scotland [ 65 ] Alzheimer Scotland Res Ctr, Edinburgh, Midlothian, Scotland [ 66 ] Univ Aberdeen, Div Appl Med, Aberdeen, Scotland [ 67 ] Garvan Inst Med Res, Canc Res Program, Sydney, NSW, Australia [ 68 ] Univ New S Wales, Sch Math & Stat, Sydney, NSW, Australia [ 69 ] Univ New S Wales, Prince Wales Clin Sch, Sydney, NSW, Australia [ 70 ] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA [ 71 ] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Dept Mol & Human Genet, Houston, TX 77030 USA [ 72 ] Univ Exeter, Sch Med, Epidemiol & Publ Hlth Grp, Exeter, Devon, England [ 73 ] Prince Wales Hosp, Neuropsychiat Inst, Sydney, NSW, Australia [ 74 ] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Cambridge, England [ 75 ] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland [ 76 ] Univ Helsinki, Dept Med Genet, Helsinki, Finland [ 77 ] Univ Cent Hosp, Helsinki, Finland [ 78 ] Taipei Med Univ, Sch Publ Hlth, Taipei, Taiwan [ 79 ] Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland [ 80 ] Natl Inst Hlth & Welf, Helsinki, Finland [ 81 ] Univ Helsinki, Cent Hosp, Unit Gen Practice, Helsinki, Finland [ 82 ] Vasa Cent Hosp, Vaasa, Finland [ 83 ] Univ Mississippi, Med Ctr, Ctr Biostat & Bioinformat, Jackson, MS 39216 USA [ 84 ] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA [ 85 ] Rush Univ, Med Ctr, 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Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh, Midlothian, Scotland [ 100 ] Wake Forest Univ, Bowman Gray Sch Med, Dept Internal Med, Winston Salem, NC 27103 USA [ 101 ] Univ Texas Hlth Sci Ctr Houston, Inst Mol Med, Houston, TX 77030 USA [ 102 ] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA [ 103 ] Erasmus Univ, Med Ctr, Dept Radiol, Rotterdam, Netherlands [ 104 ] Univ Mississippi, Med Ctr, Dept Med & Neurol, Jackson, MS 39216 USA, Human genetics, Amsterdam Neuroscience - Neurodegeneration, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), and Stem Cell Aging Leukemia and Lymphoma (SALL)
Subjects: 0301 basic medicine, Male, DISORDER, Trail Making Test, LOCI, Genome-wide association study, INTELLIGENCE, Neuropsychological Tests, Cohort Studies, Exon, Executive Function, 0302 clinical medicine, Cognition, SCHIZOPHRENIA, ONSET ALZHEIMERS-DISEASE, CADM2 protein, human, genetics [Cell Adhesion Molecules], gamma-Aminobutyric Acid, Genetics, Aged, 80 and over, PSC12, physiology [Cognition], COMMON VARIANTS, Genomics, Middle Aged, genetics [Genetic Variation], 3. Good health, physiology [Executive Function], Psychiatry and Mental health, genetics [European Continental Ancestry Group], Schizophrenia, Female, Psychology, EXPRESSION, genetics [White People], physiology [Cell Adhesion Molecules], Polymorphism, Single Nucleotide, White People, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Genetic variation, medicine, SNP, Humans, ddc:610, GENOME-WIDE ASSOCIATION, Molecular Biology, Gene, Genetic Association Studies, Aged, LINKAGE ANALYSIS, 9. Industry and infrastructure, Genetic Variation, medicine.disease, COGNITIVE FUNCTION, Introns, 030104 developmental biology, Cell Adhesion Molecules, 030217 neurology & neurosurgery, Stroop effect, Genome-Wide Association Study
Abstract: To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium. Neuropsychological testing was available for 5429-32 070 subjects of European ancestry aged 45 years or older, free of dementia and clinical stroke at the time of cognitive testing from 20 cohorts in the discovery phase. We analyzed performance on the Trail Making Test parts A and B, the Letter Digit Substitution Test (LDST), the Digit Symbol Substitution Task (DSST), semantic and phonemic fluency tests, and the Stroop Color and Word Test. Replication was sought in 1311-21860 subjects from 20 independent cohorts. A significant association was observed in the discovery cohorts for the single-nucleotide polymorphism (SNP) rs17518584 (discovery P-value=3.12 × 10(-8)) and in the joint discovery and replication meta-analysis (P-value=3.28 × 10(-9) after adjustment for age, gender and education) in an intron of the gene cell adhesion molecule 2 (CADM2) for performance on the LDST/DSST. Rs17518584 is located about 170 kb upstream of the transcription start site of the major transcript for the CADM2 gene, but is within an intron of a variant transcript that includes an alternative first exon. The variant is associated with expression of CADM2 in the cingulate cortex (P-value=4 × 10(-4)). The protein encoded by CADM2 is involved in glutamate signaling (P-value=7.22 × 10(-15)), gamma-aminobutyric acid (GABA) transport (P-value=1.36 × 10(-11)) and neuron cell-cell adhesion (P-value=1.48 × 10(-13)). Our findings suggest that genetic variation in the CADM2 gene is associated with individual differences in information processing speed. National Foundation for Alzheimer's disease and related disorders Institut Pasteur de Lille Centre National de Genotypage Inserm FRC (fondation pour la recherche sur le cerveau) Rotary LABEX (laboratory of excellence program investment for the future) DISTALZ grant (Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease) MEDIALZ Project - ERDF (European Regional Development Fund) 11001003 Conseil Regional Nord Pas de Calais Fondation pour la Recherche Medicale Caisse Nationale Maladie des Travailleurs Salaries Direction Generale de la Sante MGEN Institut de la Longevite Agence Francaise de Securite Sanitaire des Produits de Sante Aquitaine and Bourgogne Regional Councils Fondation de France joint French Ministry of Research/INSERM 'Cohortes et collections de donnees biologiques' program Eisai Wellcome Trust British Heart Foundation Chief Scientist Office of the Scottish Executive NIA N01-AG-12100 National Heart, Lung and Blood Institute Contracts HHSN268201100005C HHSN268201100006C HHSN268201100007C HHSN268201100008C HHSN268201100009C HHSN268201100010C HHSN268201100011C HHSN268201100012C R01HL70825 R01HL087641 R01HL59367 R01HL086694 National Human Genome Research Institute U01HG004402 NIH Roadmap for Medical Research Austrian Science Fond (FWF) P20545-P05 P13180 Intramural Research Program of the NIH, National Institute on Aging NHLBI HHSN268201200036C HHSN268200800007C N01HC55222 N01HC85079 N01HC85080 N01HC85081 N01HC85082 N01HC85083 N01HC850863 U01HL080295 R01HL087652 R01HL105756 R01HL103612 R01HL120393 National Institute of Neurological Disorders and Stroke (NINDS) National Institute on Aging (NIA) R01AG023629 R01AG15928 R01AG20098 R01AG027058 National Center for Advancing Translational Sciences CTSI UL1TR000124 National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) DK063491 Medical Research Council (UK) European Commission Framework 6 project EUROSPAN LSHG-CT-2006-018947 Republic of Croatia Ministry of Science, Education and Sports 108-1080315-0302 Netherlands Organization for Scientific Research (NWO) Internationale Stichting Alzheimer Onderzoek (ISAO) Hersenstichting Nederland (HSN) Centre for Medical Systems Biology (CMSB) in the framework of the Netherlands Genomics Initiative (NGI) Russian Foundation for Basic Research (RFBR) National Heart, Lung and Blood Institute's Framingham Heart Study N01-HC-25195 Affymetrix, Inc N02-HL-6-4278 U01 HL096917 R01 HL093029 Robert Dawson Evans Endowment of the Department of Medicine at Boston University School of Medicine Boston Medical Center National Institute of Neurological Disorders and Stroke NS17950 National Institute of Aging U01 AG049505 AG033193 AG008122 AG16495 Agence National de la Recherche Leducq Foundation National Heart, Lung and Blood Institute HL054464 HL054457 HL054481 HL071917 HL87660 HL043851 HL080467 National Institute of Neurological Disorders and Stroke of the National Institutes of Health NS041558 Chief Scientist Office of the Scottish Government Health Directorates CZD/16/6 Scottish Funding Council HR03006 Academy of Finland Finnish Diabetes Research Society Folkhalsan Research Foundation Novo Nordisk Foundation Finska Lakaresallskapet Signe and Ane Gyllenberg Foundation University of Helsinki Ministry of Education Ahokas Foundation Emil Aaltonen Foundation Juho Vainio Foundation Wellcome Trust WT089062 University of Newcastle's Strategic Initiative Fund Vincent Fairfax Family Foundation Hunter Medical Research Institute Italian Ministry of Health ICS 110.1RS97.71 US National Institute on Aging N01[AG]916413 N01[AG]821336 263 MD 9164 13 263 MD 821336 Intramural Research Program, National Institute on Aging, National Institutes of Health BBSRC Royal Society Chief Scientist Office of the Scottish Government Research Into Ageing UK Biotechnology and Biological Sciences Research Council (BBSRC) Engineering and Physical Sciences Research Council (EPSRC) Economic and Social Research Council (ESRC) MRC NHMRC 401184 Australian National Health & Medical Research Council 350833 568969 Capacity Building Grant 568940 NHMRC Project 525453 National Institutes of Health CA87969 CA49449 HL34594 U01HG004399 DK058845 CA65725 CA67262 CA50385 5UO1CA098233 EY09611 EY015473 HG004728 HL35464 CA55075 CA134958 DK070756 MRC Human Genetics Unit Arthritis Research UK European Union LSHG-CT-2006-018947 Bristol-Myers Squibb Netherlands Heart Foundation 2001 D 032 European commission 223004 Netherlands Genomics Initiative (Netherlands Consortium for Healthy Aging) 050-060-810 Netherlands Organisation of Scientific Research NWO Investments 175.010.2005.011 911-03-012 Research Institute for Diseases in the Elderly 014-93-015 Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO) project 050-060-810 Erasmus Medical Center Erasmus University, Rotterdam Netherlands Organization for the Health Research and Development (ZonMw) Research Institute for Diseases in the Elderly (RIDE) Ministry of Education, Culture and Science Ministry for Health, Welfare and Sports European Commission 49 (DG XII) Municipality of Rotterdam ZonMW Veni Grant 916.13.054 NIA Grants P30AG10161 R01AG15819 R01AG17917 R01AG30146 K08AG34290 K25AG41906 Federal Ministry of Education and Research 01ZZ9603 01ZZ0103 01ZZ0403 Ministry of Cultural Affairs Social Ministry of the Federal State of Mecklenburg-West Pomerania National Cancer Institute CA047988 Donald W Reynolds Foundation Fondation Leducq Amgen info:eu-repo/grantAgreement/EC/FP7/223004
Published: 2016
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6. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author: Javier Benitez, Marie Stenmark-Askmalm, Susan L. Neuhausen, Pascal Guénel, Jane Carpenter, Christine B. Ambrosone, Dominique Stoppa-Lyonnet, Nadine Tung, Gad Rennert, Stephen J. Chanock, Andrew K. Godwin, Regina M. Santella, Brita Arver, Karoline Kuchenbaecker, Kamila Czene, Vessela N. Kristensen, Natalia Bogdanova, Nazneen Rahman, Jianjun Liu, Federico Canzian, Hoda Anton-Culver, Maya Ghoussaini, Mark E. Robson, Sue K. Park, Manjeet K. Bolla, Roger L. Milne, Veli-Matti Kosma, Siranoush Manoukian, Angela Cox, Daniel F. Schmidt, Kay-Tee Khaw, Rosario Tumino, Melissa C. Southey, Ramunas Janavicius, Irene Konstantopoulou, Carl Blomqvist, John L. Hopper, Sue Healey, Christine Rappaport, Marco Montagna, SA Gayther, Heather Eliassen, Carolien H.M. van Deurzen, Jacques Simard, Emiel J. Rutgers, Jonine Figueroa, Maria A. Caligo, Volker Arndt, Sylvie Mazoyer, Diana Eccles, M.J. Hooning, Antoinette Hollestelle, Mary B. Daly, Robert Winqvist, Antonis C. Antoniou, Patricia A. Ganz, Orland Diez, Priyanka Sharma, Ana Osorio, Daniel Barrowdale, Loic Le Marchand, Drakoulis Yannoukakos, Elinor J. Sawyer, Conxi Lázaro, Soo-Hwang Teo, Penny Soucy, Paolo Radice, John W. M. Martens, Steve Ellis, David E. Goldgar, Anna Jakubowska, Maria Kabisch, Raymonda Varon-Mateeva, Diether Lambrechts, Paul D.P. Pharoah, Leigha Senter, Anna González-Neira, Cecilia M. Dorfling, Brian E. Henderson, Rulla M. Tamimi, Sara Margolin, Susan M. Gapstur, Ian Tomlinson, Thérèse Truong, Robert A.E.M. Tollenaar, Amanda E. Toland, Anna Marie Mulligan, Irene L. Andrulis, Isabelle Romieu, Monica Barile, Florentia Fostira, Johanna Rantala, Enes Makalic, Eitan Friedman, Zhaoming Wang, Mark H. Greene, Noralane M. Lindor, Julie M. Cunningham, Riccardo Dolcetti, Steven N. Hart, Mary Beth Terry, Jenny Chang-Claude, Austin Miller, Georgia Chenevix-Trench, Asta Försti, Kathleen E. Malone, Paolo Peterlongo, Lothar Haeberle, Celine M. Vachon, Elizabeth J. van Rensburg, Michael Jones, Laima Tihomirova, Penelope Miron, Eunjung Lee, María José Sánchez, Hatef Darabi, Frans B. L. Hogervorst, Matthias W. Beckmann, Edith Olah, Annika Lindblom, Phuong L. Mai, Emily Hallberg, Alison M. Dunning, Kathleen Claes, Esther M. John, Sofia Khan, David J. Hunter, Kristiina Aittomäki, Katherine L. Nathanson, Lars Beckmann, Stephanie V. Blank, Wei Zheng, Olufunmilayo I. Olopade, Heli Nevanlinna, Miguel de la Hoya, Olga M. Sinilnikova, Bruce Poppe, Catherine M. Phelan, S. Lindstrom, Stig E. Bojesen, Curtis Olswold, Fredrick R. Schumacher, Janet E. Olson, Tuomas Heikkinen, Judy Garber, Fergus J. Couch, Tara M. Friebel, Isabel dos-Santos-Silva, Douglas F. Easton, Song Yao, Dieter Flesch-Janys, Hans Ehrencrona, Simon S. Cross, Rodney J. Scott, Kenneth Offit, Petra H.M. Peeters, Clare Turnbull, Taru A. Muranen, William J. Tapper, Trinidad Caldés, Jenny Lester, Robert L. Nussbaum, Paul A. James, Marike Gabrielson, Susan M. Domchek, Mads Thomassen, Marilie D. Gammon, Susan L. Slager, Graham G. Giles, Silje Nord, Hans Wildiers, Hiltrud Brauch, Gustavo Mendoza-Fandiño, Christopher A. Haiman, Martine Dumont, Mark S. Goldberg, Bernardo Bonanni, Jirong Long, Kyriaki Michailidou, Ute Hamann, Wendy K. Chung, Marc J. Gunter, Mia M. Gaudet, Keith Humphreys, Per Hall, Yuan C. Ding, Simona Agata, Julia A. Knight, Robert Pilarski, Claudine Isaacs, Alvaro A.N. Monteiro, Montserrat Garcia-Closas, Rosa B. Barkardottir, Beth Y. Karlan, Uffe Birk Jensen, Arif B. Ekici, Evgeny N. Imyanitov, Alex Teulé, Anne-Marie Gerdes, Frederik Marme, Debra Frost, Anthony J. Swerdlow, Yon Ko, Xiaohong R. Yang, Jan Lubinski, Peter A. Fasching, Lesley McGuffog, Jacek Gronwald, Katri Pylkäs, Banu Arun, Josef Herzog, Gord Glendon, Doris Steinemann, Tomasz Huzarski, Peter Kraft, Anja Rudolph, Arto Mannermaa, Habibul Ahsan, Christian F. Singer, Rita K. Schmutzler, Julian Peto, Giski Ursin, Shan Wang-Gohrke, Andrea L. Richardson, Jeffrey N. Weitzel, Børge G. Nordestgaard, Marjanka K. Schmidt, Alice S. Whittemore, Hermann Brenner, Barbara Burwinkel, D Thompson, Csilla I. Szabo, M. Pilar Zamora, Janna Lilyquist, Muhammad G. Kibriya, Yael Laitman, Helen Tsimiklis, W. D. Foulkes, Thomas Hansen, Francesca Damiola, Robert N. Hoover, Ava Kwong, Alfons Meindl, Siddhartha Kar, Manuel R. Teixeira, Elisabete Weiderpass, Bernard Peissel, Saundra S. Buys, Peter Devilee, Unión Europea. Comisión Europea. 7 Programa Marco, Cancer Research UK (Reino Unido), National Institutes of Health (Estados Unidos), Canadian Institutes of Health Research, Florida Breast Cancer Foundation (Estados Unidos), Dunning, Alison [0000-0001-6651-7166], Ghoussaini, Maya [0000-0002-2415-2143], Khaw, Kay-Tee [0000-0002-8802-2903], Thompson, Deborah [0000-0003-1465-5799], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Medical Oncology, Obstetrics & Gynecology, Pathology, Cell biology, Medicum, Kristiina Aittomäki / Principal Investigator, Department of Medical and Clinical Genetics, Clinicum, Department of Oncology, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, and [ 1 ] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA [ 2 ] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA [ 3 ] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England [ 4 ] Univ S Florida, Coll Med, H Lee Moffitt Canc Ctr & Res Inst, Canc Epidemiol Program, Tampa, FL 33612 USA [ 5 ] Radiumhosp, Oslo Univ Hosp, Inst Canc Res, Dept Genet, N-0310 Oslo, Norway [ 6 ] IRCCS, IOV, Immunol & Mol Oncol Unit, I-20133 Padua, Italy [ 7 ] Univ Chicago, Dept Hlth Studies, Chicago, IL 60637 USA [ 8 ] Univ Chicago, Ctr Comprehens Canc, Chicago, IL 60637 USA [ 9 ] Univ Chicago, Dept Med & Human Genet, Chicago, IL 60637 USA [ 10 ] Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki 00029, Finland [ 11 ] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA [ 12 ] Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada [ 13 ] Univ Toronto, Dept Mol Genet, Toronto, ON M5B 1W8, Canada [ 14 ] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5B 1W8, Canada [ 15 ] Univ Calif Irvine, Dept Epidemiol, Irvine, CA 92697 USA [ 16 ] German Canc Res Ctr, Div Clin Epidemiol & Aging Res, D-69120 Heidelberg, Germany [ 17 ] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA [ 18 ] Karolinska Univ Hosp, Dept Oncol, SE-17176 Stockholm, Sweden [ 19 ] Ist Europeo Oncol, Div Canc Prevent & Genet, I-20141 Milan, Italy [ 20 ] Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital [ 21 ] Univ Iceland, Sch Med, IS-101 Reykjavik, Iceland [ 22 ] Inst Qual & Efficiency Hlth Care IQWiG, D-50670 Cologne, Germany [ 23 ] Univ Erlangen Nurnberg, Comprehens Canc Ctr Erlangen EMN, Univ Breast Ctr Franconia, Dept Gynecol & Obstet,Univ Hosp Erlangen, D-91054 Erlangen, Germany [ 24 ] Spanish Natl Canc Ctr CNIO, Human Genet Grp, Human Canc Genet Program, Madrid 28029, Spain [ 25 ] Spanish Natl Canc Ctr CNIO, Human Canc Genet Program, Genotyping Unit CeGen, Madrid 28029, Spain [ 26 ] Biomed Network Rare Dis CIBERER, Madrid 28029, Spain [ 27 ] NYU, Sch Med, NYU Womens Canc Program, New York, NY 10016 USA [ 28 ] Univ Helsinki, Dept Oncol, FI-00029 Helsinki, Finland [ 29 ] Univ Helsinki, Cent Hosp, FI-00029 Helsinki, Finland [ 30 ] Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany [ 31 ] Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, DK-2730 Herlev, Denmark [ 32 ] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany [ 33 ] Univ Tubingen, D-72074 Tubingen, Germany [ 34 ] German Canc Res Ctr, Div Prevent Oncol, D-69120 Heidelberg, Germany [ 35 ] Natl Ctr Tumor Dis NCT, D-69120 Heidelberg, Germany [ 36 ] Heidelberg Univ, Dept Obstet & Gynecol, D-69120 Heidelberg, Germany [ 37 ] Univ Utah, Sch Med, Dept Med, Huntsman Canc Inst, Salt Lake City, UT 84112 USA [ 38 ] IdISSC, Hosp Clin San Carlos, Mol Oncol Lab, Madrid 28040, Spain [ 39 ] Univ Pisa, Dept Lab Med, Sect Genet Oncol, I-56126 Pisa, Italy [ 40 ] Univ Hosp Pisa, I-56126 Pisa, Italy [ 41 ] German Canc Res Ctr, Genom Epidemiol Grp, D-69120 Heidelberg, Germany [ 42 ] Univ Sydney, Westmead 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Subjects: 0301 basic medicine, Oncology, General Physics and Astronomy, Genome-wide association study, Cyclophilins, Breast cancer, 3123 Gynaecology and paediatrics, Risk Factors, Brjóstakrabbamein, Genotype, BRCA2 MUTATION CARRIERS, Medicine and Health Sciences, CONFER SUSCEPTIBILITY, skin and connective tissue diseases, Cancer, GENE-EXPRESSION, Genetics, RISK, tRNA Methyltransferases, Multidisciplinary, Genome, VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin, sosialmedisin: 801, Loci, BRCA1 Protein, Chromosome Mapping, COMMON VARIANTS, IDENTIFY, PANCREATIC-CANCER, 3. Good health, Multidisciplinary Sciences, Biological sciences, Receptors, Estrogen, Chromosomes, Human, Pair 2, Science & Technology - Other Topics, Female, NAF12, medicine.medical_specialty, Heterozygote, Science, 3122 Cancers, Locus (genetics), Breast Neoplasms, Biology, Breast Neoplasms/genetics, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Càncer de mama, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, Pancreatic cancer, MD Multidisciplinary, medicine, Genetic predisposition, Journal Article, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, METAANALYSIS, Cancer och onkologi, Science & Technology, VDP::Medical disciplines: 700::Clinical medical disciplines: 750::Oncology: 762, General Chemistry, Arfgengi, medicine.disease, TRNA Methyltransferases, VDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Onkologi: 762, 030104 developmental biology, Cancer and Oncology, Expression quantitative trait loci, Mutation, TELOMERE LENGTH, 3111 Biomedicine, Gene expression, VDP::Medical disciplines: 700::Health sciences: 800::Community medicine, Social medicine: 801, Genome-Wide Association Study
Abstract: Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P, B.C.A.C. was funded through a European Community Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175; COGS); Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692); the National Institutes of Health Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), R01 grants (CA128978, CA176785, CA192393), and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative); the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Breast Cancer Res. Foundation, and the Ovarian Cancer Research Fund. CIMBA genotyping was supported by National Institutes of Health grant (CA128978); the Department of Defence (W81XWH-10-1-0341); and the Breast Cancer Res. Foundation. CIMBA data management and data analysis were supported by Cancer Research UK grants C12292/A11174 and C1287/A10118. This study made use of data generated by the Wellcome Trust Case Control consortium. Functional studies were supported by the Florida Breast Cancer Foundation. A full description of funding and acknowledgments is provided in Supplementary Note 1.
Published: 2018
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7. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

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Hanis, Thomas WMühleisen, Congrong Wang, Sonia Shah, Kyle J. Gaulton, Jaspal S. Kooner, Jiro Nakamura, Mustafa Atalay, Linda S. Adair, S Wiltshire, Tõnu Esko, Anna Jonsson, Antigone S. Dimas, Karin Leander, Li Ching Chang, George B. Grant, Bo Isomaa, Anne U. Jackson, Claudia Langenberg, Kristian Hveem, Yoon Shin Cho, Astradur B. Hreidarsson, Xu Wang, Keizo Ohnaka, Alexandra C. Nica, Simon D. Rees, Pau Navarro, Sekar Kathiresan, Rob M. van Dam, Zafar I. Hydrie, Bok Ghee Han, Francis S. Collins, Fuu Jen Tsai, Unnur Thorsteinsdottir, Ross M. Fraser, Caroline Hayward, Cornelia M. van Duijn, Samuli Ripatti, Mieke D. Trip, Hyung Lae Kim, Rafn Benediktsson, Candace Guiducci, Bruna Gigante, Kyong Soo Park, Wen Hong L. Kao, Tom Wilsgaard, Leena Kinnunen, John Danesh, Alan James, Alan R. Shuldiner, Mitsuhiro Yokota, Jen Mai Lee, Kari Stefansson, Erik Ingelsson, Colin N. A. Palmer, David J. Hunter, Paul Zimmet, Manickam Chidambaram, Sirkka Keinänen-Kiukaanniemi, Laura J. Scott, Susanne Moebus, Benjamin F. Voight, Wolfgang Rathmann, Hassan Khan, Thomas Illig, Prasad Katulanda, Christian Gieger, Andrew D. Morris, Yik Ying Teo, Andrew P. Morris, Venkatesan Radha, N. William Rayner, Johan G. Eriksson, Christian Dina, Igor Rudan, Sailaja Vedantam, Cheng Hu, James S. Pankow, Ann-Christine Syvänen, Karl Gertow, Valeriya Lyssenko, Guillaume Charpentier, Albert Hofman, Chiea Chuen Khor, Joseph Trakalo, Peter Kraft, Takashi Kadowaki, Qiuyin Cai, John C. Chambers, André G. Uitterlinden, Simon C. Potter, Nicholas J. Wareham, Soumya Raychaudhuri, Jian'an Luan, Tiinamaija Tuomi, Anthony H. Barnett, Juha Saltevo, Robert A. Scott, Valgerdur Steinthorsdottir, Peng Keat Ng, Mark I. McCarthy, Åsa K. Hedman, Kerrin S. Small, Julia Meyer, Frank B. Hu, Cecilia M. Lindgren, Jennifer E. Below, Nancy J. Cox, Jennie Hui, Andrew Crenshaw, Latonya F. Been, Nam H. Cho, Janani Pinidiyapathirage, A. 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Diabet Res Ctr, Diabet Unit, Boston, MA 02114 USA [ 95 ] Addenbrookes Hosp, Inst Metab Sci, MRC, Epidemiol Unit, Cambridge, England [ 96 ] Vaasa Hlth Care Ctr, Vaasa, Finland [ 97 ] Brigham & Womens Hosp, Div Endocrinol & Metab, Boston, MA 02115 USA [ 98 ] Harvard Univ, Sch Med, Boston, MA USA [ 99 ] Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter, Devon, England [ 100 ] Shanghai Canc Inst, Dept Epidemiol, Shanghai, Peoples R China [ 101 ] Karolinska Inst, Dept Med Solna, Atherosclerosis Res Unit, Stockholm, Sweden [ 102 ] Karolinska Univ, Hosp Solna, Ctr Mol Med, Stockholm, Sweden [ 103 ] Helmholtz Zentrum Muenchen, Inst Genet Epidemiol, Neuherberg, Germany [ 104 ] Helmholtz Zentrum Muenchen, Res Unit Mol Epidemiol, Neuherberg, Germany [ 105 ] Univ Munich, Clin Cooperat Grp Diabet, Munich, Germany [ 106 ] Helmholtz Zentrum Muenchen, Munich, Germany [ 107 ] Tech Univ Munich, Clin Cooperat Grp Nutrigen & Type Diabet 2, Munich, Germany [ 108 ] German Ctr Diabet Res DZD, Neuherberg, Germany [ 109 ] Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England [ 110 ] Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Tokyo, Japan [ 111 ] Univ Exeter, Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter, Devon, England [ 112 ] Univ Dusseldorf, Leibniz Ctr Diabet Res, German Diabet Ctr, Inst Clin Diabetol, Dusseldorf, Germany [ 113 ] Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Levanger, Norway [ 114 ] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands [ 115 ] Brigham & Womens Hosp, Dept Med, Channing Lab, Boston, MA USA [ 116 ] Univ Western Australia, Sch Populat Hlth, Nedlands, WA 6009, Australia [ 117 ] UCL, Inst Cardiovasc Sci, London, England [ 118 ] Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA 02115 USA [ 119 ] Kinki Univ, Sch Med, Dept Diabet Endocrinol & Metab, Osaka 589, Japan [ 120 ] Hannover Med Sch, Hannover Unified Biobank, Hannover, Germany [ 121 ] Univ Uppsala Hosp, Dept Mol Sci, Mol Epidemiol & Sci Life Lab, Uppsala, Sweden [ 122 ] Aga Khan Univ, Dept Community Hlth Sci, Karachi, Pakistan [ 123 ] Dept Social Serv & Hlth Care, Pietarsaari, Finland [ 124 ] Aga Khan Univ, Dept Med, Karachi, Pakistan [ 125 ] Queen Elizabeth II Med Ctr, West Australian Sleep Disorders Res Inst, Dept Pulm Physiol & Sleep Med, Nedlands, WA, Australia [ 126 ] Univ Western Australia, Sch Med & Pharmacol, Nedlands, WA 6009, Australia [ 127 ] Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany [ 128 ] Heart & Diabet Inst, Baker Int Diabet Inst IDI, Melbourne, Australia [ 129 ] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA [ 130 ] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA [ 131 ] Natl Ctr Global Hlth & Med, Res Inst, Shinjuku Ku, Tokyo, Japan [ 132 ] Univ Colombo, Dept Clin Med, Diabet Res Unit, Colombo, Sri Lanka [ 133 ] Univ Oulu, Inst Hlth Sci, Fac Med, Oulu, Finland [ 134 ] Oulu Univ Hosp, Unit Gen Practice, Oulu, Finland [ 135 ] Agcy Sci Technol & Res, Genome Inst Singapore, Singapore, Singapore [ 136 ] Ewha Womans Univ, Sch Med, Dept Biochem, Seoul, South Korea [ 137 ] Soongsil Univ, Sch Syst Biomed Sci, Seoul, South Korea [ 138 ] Natl Inst Hlth & Welf, Diabet Prevent Unit, Helsinki, Finland [ 139 ] deCODE Genet, Reykjavik, Iceland [ 140 ] South Ostrobothnia Cent Hosp, Seinajoki, Finland [ 141 ] Minist Hlth, Port Louis, Mauritius [ 142 ] Univ Toronto, Dept Anthropol, Mississauga, ON L5L 1C6, Canada [ 143 ] Fdn IMSS, Mexico City, DF, Mexico [ 144 ] Univ Eastern Finland, Dept Med, Kuopio, Finland [ 145 ] Kuopio Univ Hosp, SF-70210 Kuopio, Finland [ 146 ] Kuopio Res Inst Exercise Med, Kuopio, Finland [ 147 ] Univ Western Australia, Ctr Genet Epidemiol & Biostat, Nedlands, WA 6009, Australia [ 148 ] Univ San Carlos, Off Populat Studies Fdn Inc, Cebu, Philippines [ 149 ] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Natl Heart & Lung Inst, London, England [ 150 ] Univ N Carolina, Dept Genet, Chapel Hill, NC USA [ 151 ] Univ N Carolina, Dept Biostat, Chapel Hill, NC USA [ 152 ] Beijing Genom Inst, Shenzhen, Peoples R China [ 153 ] Uppsala Univ, Akad Sjukhuset, Dept Med Sci, Uppsala, Sweden [ 154 ] Mt Sinai Sch Med, Charles R Bronfman Inst Personalized Med, New York, NY USA [ 155 ] Mt Sinai Sch Med, Child Hlth & Dev Inst, New York, NY USA [ 156 ] Mt Sinai Sch Med, Dept Prevent Med, New York, NY USA [ 157 ] Shanghai Inst Prevent Med, Shanghai, Peoples R China [ 158 ] Massachusetts Gen Hosp, Div Gen Med, Boston, MA 02114 USA [ 159 ] Dr Mohans Diabet Specialties Ctr, Madras, Tamil Nadu, India [ 160 ] Univ Bonn, Inst Human Genet, Bonn, Germany [ 161 ] Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany [ 162 ] Univ Munich, Chair Genet Epidemiol, Inst Med Informat Biometry & Epidemiol, Munich, Germany [ 163 ] Univ Munich, Univ Hosp Grosshadern, Dept Med 1, Munich, Germany [ 164 ] Sir Charles Gairdner Hosp, Nedlands, WA 6009, Australia [ 165 ] Nagoya Univ, Grad Sch Med, Div Endocrinol & Diabet, Dept Internal Med, Nagoya, Aichi 4648601, Japan [ 166 ] Chubu Rosai Hosp, Dept Endocrinol & Diabet, Nagoya, Aichi, Japan [ 167 ] Univ Tromso, Fac Hlth Sci, Dept Community Med, Tromso, Norway [ 168 ] Kyushu Univ, Grad Sch Med Sci, Dept Geriatr Med, Higashi Ku, Fukuoka 812, Japan [ 169 ] Churchill Hosp, Hlth Res Biomed Res Ctr, Oxford Natl Inst, Oxford OX3 7LJ, England [ 170 ] Univ Minnesota, Div Epidemiol & Community Hlth, Minneapolis, MN USA [ 171 ] Seoul Natl Univ, Grad Sch Convergence Sci & Technol, Dept Mol Med & Biopharmaceut Sci, World Class Univ Program, Seoul, South Korea [ 172 ] Seoul Natl Univ, Coll Med, Seoul, South Korea [ 173 ] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden [ 174 ] Inst Mol Med Finland FIMM, Helsinki, Finland [ 175 ] Helmholtz Zentrum Muenchen, Inst Epidemiol 2, Neuherberg, Germany [ 176 ] Univ Kelaniya, Fac Med, Dept Publ Hlth, Ragama, Sri Lanka [ 177 ] Nord Trondelag Hlth Trust, Levanger Hosp, Dept Internal Med, Levanger, Norway [ 178 ] Univ Gen Hosp Attikon, Athens, Greece [ 179 ] Univ Dusseldorf, Leibniz Ctr Diabet Res, German Diabet Ctr, Inst Biometr & Epidemiol, Dusseldorf, Germany [ 180 ] Kuopio Univ Hosp, Dept Clin Physiol & Nucl Med, SF-70210 Kuopio, Finland [ 181 ] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Rheumatol Immunol & Allergy, Boston, MA 02115 USA [ 182 ] Partners Ctr Personalized Genom Med, Boston, MA USA [ 183 ] Univ Dusseldorf, Dept Endocrinol & Diabetol, Dusseldorf, Germany [ 184 ] Univ Dusseldorf, Dept Metab Dis, Dusseldorf, Germany [ 185 ] Harvard Univ, Hlth Sci & Technol MD Program, Boston, MA 02115 USA [ 186 ] MIT, Boston, MA USA [ 187 ] Harvard Univ, Harvard Biol & Biomed Sci Program, Boston, MA 02115 USA [ 188 ] Boston Univ, Data Coordinating Ctr, Boston, MA 02215 USA [ 189 ] Finnish Diabet Assoc, Tampere, Finland [ 190 ] Pirkanmaa Hosp Dist, Tampere, Finland [ 191 ] Cent Finland Cent Hosp, Dept Med, Jyvaskyla, Finland [ 192 ] South Karelia Cent Hosp, Lappeenranta, Finland [ 193 ] UCL, Dept Genet Evolut & Environm, Genet Inst, London, England [ 194 ] Diabet Assoc Pakistan, Karachi, Pakistan [ 195 ] Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA [ 196 ] Baltimore Vet Adm Med Ctr, Geriatr Res Educ & Clin Ctr, Baltimore, MD USA [ 197 ] Univ Maryland, Sch Med, Program Personalised & Genom Med, Baltimore, MD 21201 USA [ 198 ] Erasmus Univ, Med Ctr, Dept Internal Med, Rotterdam, Netherlands [ 199 ] Univ Ulm, Dept Clin Chem, D-89069 Ulm, Germany [ 200 ] Univ Ulm, Cent Lab, D-89069 Ulm, Germany [ 201 ] Uppsala Univ, Dept Med Sci, Uppsala, Sweden [ 202 ] Kyushu Univ, Grad Sch Med Sci, Dept Internal Med & Bioregulatory Sci, Higashi Ku, Fukuoka 812, Japan [ 203 ] Univ Helsinki, Helsinki Univ Hosp, Dept Med, Helsinki, Finland [ 204 ] Hosp Univ LaPaz IdiPAZ, Inst Invest Sanitaria, Madrid, Spain [ 205 ] Danube Univ Krems, Ctr Vasc Prevent, Krems, Austria [ 206 ] King Abdulaziz Univ, Diabet Res Grp, Jeddah 21413, Saudi Arabia [ 207 ] IMSS, Ctr Med Nacl Siglo 21, Hosp Especialidades, Unidad Invest Med Bioquim, Mexico City, DF, Mexico [ 208 ] Univ Penn, Perelman Sch Med, Dept Pharmacol, Philadelphia, PA 19104 USA [ 209 ] Univ Melbourne, Ctr Eye Res Australia, East Melbourne, Vic, Australia [ 210 ] Kyushu Univ, Med Inst Bioregulat, Res Ctr Genet Informat, Div Genome Anal,Higashi Ku, Fukuoka 812, Japan [ 211 ] Univ Lille 1, Math Lab, CNRS UMR 8524, MODAL Team,INRIA Lille Nord Europe, F-59655 Villeneuve Dascq, France [ 212 ] Aichi Gakuin Univ, Sch Dent, Dept Genome Sci, Nagoya, Aichi 464, Japan [ 213 ] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA [ 214 ] Harvard Univ, Sch Med, Dept Mol Biol, Boston, MA USA [ 215 ] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA [ 216 ] Wake Forest Sch Med, Dept Biochem, Winston Salem, NC USA [ 217 ] Wake Forest Sch Med, Dept Internal Med, Winston Salem, NC USA [ 218 ] Hallym Univ, Dept Biomed Sci, Chunchon, Gangwon Do, South Korea [ 219 ] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA [ 220 ] Imperial Coll Healthcare NHS Trust, London, England [ 221 ] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA [ 222 ] Blood Syst Res Inst, San Francisco, CA USA [ 223 ] Natl Univ Singapore, Grad Sch Integrat Sci & Engn, Singapore 117548, Singapore [ 224 ] Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore 117548, Singapore [ 225 ] Natl Univ Singapore, Dept Med, Singapore 117548, Singapore [ 226 ] Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore [ 227 ] Univ Liverpool, Dept Biostat, Liverpool L69 3BX, Merseyside, England, Obstetrics & Gynecology, Radiology & Nuclear Medicine, Surgery, Epidemiology, Dermatology, Internal Medicine, Medical Microbiology & Infectious Diseases, Medical Research Council (MRC), National Institute for Health Research, ACS - Amsterdam Cardiovascular Sciences, Vascular Medicine, and Cardiology
Subjects: CHROMATIN, endocrine system diseases, South Asian Type 2 Diabetes (SAT2D) Consortium, SCALE ASSOCIATION ANALYSIS, Medizin, LOCI, Genome-wide association study, VARIANTS, 0302 clinical medicine, Risk Factors, IMPUTATION, Glucose homeostasis, 11 Medical and Health Sciences, Genetics & Heredity, Genetics, 0303 health sciences, IDENTIFY, Hispanic or Latino, 3. Good health, MAP, POPULATIONS, Medical genetics, Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium, Hispanic Americans, Life Sciences & Biomedicine, Asian Continental Ancestry Group, medicine.medical_specialty, European Continental Ancestry Group, TRANSETHNIC METAANALYSIS, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, White People, Sykursýki, 03 medical and health sciences, Asian People, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, Allele, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, Alleles, 030304 developmental biology, Genetic association, Science & Technology, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium, 06 Biological Sciences, Arfgengi, Genetic architecture, INDIVIDUALS, Diabetes Mellitus, Type 2, Case-Control Studies, GLUCOSE-HOMEOSTASIS, ASSOCIATION ANALYSES, Imputation (genetics), Developmental Biology, Genome-Wide Association Study
Abstract: To access publisher's full text version of this article click on the hyperlink at the bottom of the page To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant excess in the directional consistency of T2D risk alleles across ancestry groups, even at SNPs demonstrating only weak evidence of association. By following up the strongest signals of association from the trans-ethnic meta-analysis in an additional 21,491 cases and 55,647 controls of European ancestry, we identified seven new T2D susceptibility loci. Furthermore, we observed considerable improvements in the fine-mapping resolution of common variant association signals at several T2D susceptibility loci. These observations highlight the benefits of trans-ethnic GWAS for the discovery and characterization of complex trait loci and emphasize an exciting opportunity to extend insight into the genetic architecture and pathogenesis of human diseases across populations of diverse ancestry. Canadian Institutes of Health Research Medical Research Council UK G0601261 Mexico Convocatoria SSA/IMMS/ISSSTE-CONACYT 2012-2 clave 150352 IMSS R-2011-785-018 CONACYT Salud-2007-C01-71068 US National Institutes of Health DK062370 HG000376 DK085584 DK085545 DK073541 DK085501 Wellcome Trust WT098017 WT090532 WT090367 WT098381 WT081682 WT085475 info:eu-repo/grantAgreement/EC/FP7/201413
Published: 2014
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8. HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

Author: Ari Karason, Jeffrey C. Barrett, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Adalbjorg Jonasdottir, Kai Blöndal, Olafur Th Magnusson, Aslaug Jonasdottir, Hafdis T. Helgadottir, Larus J. Gudmundsson, Helgi Kristjansson, Yang Luo, Kari Stefansson, Gardar Sveinbjornsson, Gisli Masson, Mar Kristjansson, Arnaldur Gylfason, Augustine Kong, Ljiljana Bulat Kardum, Sigurjon A. Gudjonsson, Ingileif Jonsdottir, Arthur Löve, Jelena Knežević, Magnus Gottfredsson, Bjarni V. Halldorsson, Thorsteinn Blondal, Zlatko Dembic, Sergey Nejentsev, Karl G. Kristinsson, Patrick Sulem, and [ 1 ] Amgen Inc, deCODE Genet, Reykjavik, Iceland [ 2 ] Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland [ 3 ] Reykjavik Univ, Sch Sci & Engn, Reykjavik, Iceland [ 4 ] Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland [ 5 ] Natl Univ Hosp Iceland, Dept Clin Microbiol, Landspitali, Reykjavik, Iceland [ 6 ] Natl Univ Hosp Iceland, Dept Infect Dis, Landspitali, Reykjavik, Iceland [ 7 ] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England [ 8 ] Primary Hlth Care Capital Area, Div Communicable Dis Prevent & Control, Reykjavik, Iceland [ 9 ] Univ Rijeka, Dept Pulmonol, Clin Internal Med, Clin Hosp Ctr, Rijeka, Croatia [ 10 ] Univ Oslo, Fac Dent, Dept Oral Biol, Mol Genet Lab, Oslo, Norway [ 11 ] Rudjer Boskovic Inst, Div Mol Med, Zagreb, Croatia [ 12 ] Natl Univ Hosp Iceland, Landspitali, Dept Virol, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital [ 13 ] Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England [ 14 ] Natl Univ Hosp Iceland, Landspitali, Dept Immunol, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital
Subjects: 0301 basic medicine, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, T-Lymphocytes, Iceland, Genome-wide association study, TMD12, 0302 clinical medicine, Gene Frequency, Risk Factors, Genetics, variants, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Berklar, 3. Good health, Europe, BAC12, tuberculosis, 030220 oncology & carcinogenesis, NAF12, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti, Tuberculosis, Human leukocyte antigen, Biology, Article, HLA-DQ alpha-Chains, White People, 03 medical and health sciences, Antigen, medicine, Humans, Genetic Predisposition to Disease, HLA class II, Allele, Tuberculosis, Pulmonary, Allele frequency, Alleles, PAD12, Genome, Human, HLA-DR Antigens/genetics, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences, Genetic Variation, Mycobacterium tuberculosis, Odds ratio, Arfgengi, medicine.disease, Virology, Tuberculosis, Pulmonary/genetics, Minor allele frequency, 030104 developmental biology, Genome-Wide Association Study, HLA-DRB1 Chains
Abstract: To access publisher's full text version of this article click on the hyperlink at the bottom of the page Mycobacterium tuberculosis infections cause 9 million new tuberculosis cases and 1.5 million deaths annually. To identify variants conferring risk of tuberculosis, we tested 28.3 million variants identified through whole-genome sequencing of 2,636 Icelanders for association with tuberculosis (8,162 cases and 277,643 controls), pulmonary tuberculosis (PTB) and M. tuberculosis infection. We found association of three variants in the region harboring genes encoding the class II human leukocyte antigens (HLAs): rs557011[T] (minor allele frequency (MAF) = 40.2%), associated with M. tuberculosis infection (odds ratio (OR) = 1.14, P = 3.1 × 10(-13)) and PTB (OR = 1.25, P = 5.8 × 10(-12)), and rs9271378[G] (MAF = 32.5%), associated with PTB (OR = 0.78, P = 2.5 × 10(-12))-both located between HLA-DQA1 and HLA-DRB1-and a missense variant encoding p.Ala210Thr in HLA-DQA1 (MAF = 19.1%, rs9272785), associated with M. tuberculosis infection (P = 9.3 × 10(-9), OR = 1.14). We replicated association of these variants with PTB in samples of European ancestry from Russia and Croatia (P < 5.9 × 10(-4)). These findings show that the HLA class II region contributes to genetic risk of tuberculosis, possibly through reduced presentation of protective M. tuberculosis antigens to T cells. US National Institute of Allergy and Infectious Diseases HHSN266200400064C UK Wellcome Trust 088838/Z/09/Z 095198/Z/10/Z info:eu-repo/grantAgreement/EC/FP7/201483 European Research Council Starting 260477 Royal Society UF0763346 RG090638 Wellcome Trust Senior Research fellowship National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre
Published: 2016

9. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Author: Laura J. Scott, Neil Robertson, Anders Hamsten, Domenico Palli, Susanne Moebus, Bernhard O. Boehm, Gunnar Sigurðsson, Paul W. Franks, C. N. A. Palmer, Sonali Pechlivanis, Katharine R. Owen, Michael E. Reschen, Sarah Edkins, Jason Carey, Christopher A. O’Callaghan, Norman Klopp, Caroline S. Fox, Petter Storm, N. William Rayner, Johan G. Eriksson, Thomas Illig, Anubha Mahajan, Erik Ingelsson, Allan Linneberg, Andrew R. Wood, Oddgeir L. Holmen, Nicola L. Beer, Mark I. McCarthy, Frank B. Hu, Peter Almgren, Heiner Boeing, Peter Donnelly, Carl Platou, Veikko Salomaa, Karl-Heinz Jöcke, Wen-Hong L. Kao, Lori L. Bonnycastle, Denis Rybin, Benjamin F. Voight, Peter Kraft, Inês Barroso, Claudia Langenberg, Teresa Ferreira, Peter Kovacs, Anne Raimondo, Christian Theil Have, Ulf de Faire, Torben Hansen, Han Chen, James B. Meigs, Timothy M. Frayling, Noël P. Burtt, Gerald Steinbach, Eric Boerwinkle, Michael Stumvoll, Stefan Gustafsson, Lars Lind, Andrew D. Morris, Alena Stančáková, Panagiotis Deloukas, Kari Stefansson, Augustine Kong, Hans A. Kestler, Andrew T. Hattersley, Beverley Balkau, Lorenzo Pasquali, Yingchang Lu, Nicola D. Kerrison, George B. Grant, Eeva Korpi-Hyövälti, Steven Wiltshire, Karl Gertow, Jorge Ferrer, Barbara Thorand, Inga Prokopenko, Matthias Blüher, Yvonne T. van der Schouw, Olga McLeod, Oluf Pedersen, Leena Peltonen, Anil Chalisey, Eleftheria Zeggini, Joseph Trakalo, Eric J.G. Sijbrands, Rainer Rauramaa, Guillaume Charpentier, Satu Männistö, Cordelia Langford, Lewin Eisele, Damiano Baldassarre, Lennart C. Karssen, Rona J. Strawbridge, Ghazala Mirza, Peter S. Chines, Roman Wennauer, Sara M. Willems, Erwin P. Bottinger, Timo Saaristo, Stéphane Cauchi, Ching-Ti Liu, Martijn van de Bunt, Valgerdur Steinthorsdottir, David Altshuler, Hyun Min Kang, Michael Boehnke, Jaakko Tuomilehto, Peter M. Nilsson, Kyle J. Gaulton, Jian'an Luan, Loic Yengo, David Couper, Reedik Mägi, Harald Grallert, Simone Wahl, Juha Saltevo, Phoenix Kwan, Cecilia M. Lindgren, Peter Lichtner, Richard N. Bergman, Andrew Crenshaw, João Fadista, Michael Roden, Annette Peters, Robert A. Scott, Unnur Thorsteinsdottir, James S. Pankow, Yeji Lee, Cornelia M. van Duijn, Samuli Ripatti, Francis S. Collins, Stéphane Lobbens, Niels Grarup, Ruth J. F. Loos, Julia Meyer, Marit E. Jørgensen, Christian Herder, Inger Njølstad, John R. B. Perry, Markus M. Nöthen, Man Li, Martina Müller-Nurasyid, Valeriya Lyssenko, Pierre Fontanillas, Michael D. Linderman, Leena Kinnunen, Jana K. Rundle, Elena Tremoli, Marilyn C. Cornelis, Tanya M. Teslovich, Todd Green, Raimund Erbel, Elisabeth M. van Leeuwen, Bengt Sennblad, Olle Melander, Sirkka Keinänen-Kiukaanniemi, Markku Laakso, Eero Lindholm, Alex S. F. Doney, Anke Tönjes, Maija Hassinen, Thomas W. Mühleisen, Gonçalo R. Abecasis, Nancy L. Pedersen, Thomas Sparsø, Johanna Kuusisto, Dorothée Thuillier, Qi Sun, Ian Dunham, Himanshu Chheda, Adam E. Locke, Philippe Froguel, Nicholas J. Wareham, Bruna Gigante, Jose C. Florez, Mozhgan Dorkhan, Omri Gottesman, Liming Liang, Anna Jonsson, Tiinamaija Tuomi, Leif Groop, Steve E. Humphries, Heikki A. Koistinen, Kristian Hveem, Astradur B. Hreidarsson, Jason Flannick, Torben Jørgensen, Clement Ma, Mattias Frånberg, Ewan Birney, Andrew P. Morris, Timo A. Lakka, Rob M. van Dam, Heather M. Stringham, Christian Gieger, Elodie Eury, Konstantin Strauch, Anna L. Gloyn, Rafn Benediktsson, Andres Metspalu, David J. Hunter, Karen L. Mohlke, Gudmar Thorleifsson, Josée Dupuis, Emmi Tikkanen, Christian Fuchsberger, Evelin Mihailov, Christopher J. Groves, Soren K. Thomsen, Tõnu Esko, Anne U. Jackson, Karin Leander, Douglas M. Ruderfer, Nikolay Oskolkov, Sekar Kathiresan, Robert Sladek, Lu Qi, Jasmina Kravic, Carmen Navarro, Epidemiology, Dermatology, Internal Medicine, ACS - Amsterdam Cardiovascular Sciences, Vascular Medicine, Cardiology, Wellcome Trust, Imperial College Healthcare NHS Trust- BRC Funding, Medical Research Council (MRC), [ 1 ] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England [ 2 ] Stanford Univ, Dept Genet, Stanford, CA 94305 USA [ 3 ] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA [ 4 ] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England [ 5 ] Univ Tartu, Estonian Genome Ctr, EE-50090 Tartu, Estonia [ 6 ] Univ Oxford, Nuffield Dept Med, Ctr Cellular & Mol Physiol, Oxford, England [ 7 ] Wellcome Trust Sanger Inst, Hinxton, England [ 8 ] Univ Cambridge, Sch Clin Med, Inst Metab Sci, Med Res Council MRC Epidemiol Unit, Cambridge, England [ 9 ] Univ London Imperial Coll Sci Technol & Med, Genom Common Dis, London, England [ 10 ] Broad Inst Harvard & MIT, Cambridge, MA USA [ 11 ] Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn Ctr Basic Metab Res, Copenhagen, Denmark [ 12 ] European Genom Inst Diabet, Lille Inst Biol, Lille, France [ 13 ] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, Neuherberg, Germany [ 14 ] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 2, Neuherberg, Germany [ 15 ] German Ctr Diabet Res, Neuherberg, Germany [ 16 ] Karolinska Inst, Dept Med Solna, Atherosclerosis Res Unit, Stockholm, Sweden [ 17 ] Sci Life Lab, Stockholm, Sweden [ 18 ] Stockholm Univ, Dept Numer Anal & Comp Sci, S-10691 Stockholm, Sweden [ 19 ] Fritz Lipmann Inst, Leibniz Inst Age Res, Jena, Germany [ 20 ] Univ Ulm, Med Syst Biol, D-89069 Ulm, Germany [ 21 ] Finnish Inst Mol Med, Helsinki, Finland [ 22 ] Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany [ 23 ] Uppsala Univ, Dept Med Sci, Mol Epidemiol & Sci Life Lab, Uppsala, Sweden [ 24 ] deCODE Genet Amgen Inc, Reykjavik, Iceland [ 25 ] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA [ 26 ] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA [ 27 ] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, Boston, MA 02115 USA [ 28 ] Harvard Univ, Sch Publ Hlth, Boston, MA 02115 USA [ 29 ] Tulane Univ, Sch Publ Hlth & Trop Med, Dept Epidemiol, New Orleans, LA USA [ 30 ] Erasmus Univ, Med Ctr, Dept Epidemiol, Rotterdam, Netherlands [ 31 ] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA [ 32 ] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA [ 33 ] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA [ 34 ] Icahn Sch Med Mt Sinai, Icahn Inst Genom & Multiscale Biol, New York, NY 10029 USA [ 35 ] Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA [ 36 ] Univ Penn, Perelman Sch Med, Dept Pharmacol, Philadelphia, PA 19104 USA [ 37 ] Lund Univ, Scania Univ Hosp, Dept Clin Sci Malmo, Ctr Diabet, Malmo, Sweden [ 38 ] IRCCS, Ctr Cardiol Monzino, Milan, Italy [ 39 ] Univ Milan, Dipartimento Sci Farmacol & Biomol, Milan, Italy [ 40 ] Ctr Rech Epidemiol & Sante Populat CESP, INSERM, U1018, Villejuif, France [ 41 ] Univ Paris 11, UMRS 1018, Villejuif, France [ 42 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 43 ] Landspitali Univ Hosp, Reykjavik, Iceland Organization-Enhanced Name(s) Landspitali National University Hospital [ 44 ] Univ Leipzig, Integrated Treatment & Res IFB Ctr Adipos Dis, D-04109 Leipzig, Germany [ 45 ] Univ Leipzig, Dept Med, D-04109 Leipzig, Germany [ 46 ] German Inst Human Nutr, Potsdam, Germany [ 47 ] NHGRI, US NIH, Bethesda, MD 20892 USA [ 48 ] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA [ 49 ] Corbeil Essonnes Hosp, Endocrinol Diabetol Unit, Corbeil Essonnes, France [ 50 ] Northwestern Univ, Feinberg Sch Med, Dept Prevent Med, Chicago, IL 60611 USA [ 51 ] Univ N Carolina, Dept Biostat, Collaborat Studies Coordinating Ctr, Chapel Hill, NC USA [ 52 ] Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore [ 53 ] Univ Dundee, Ninewells Hosp, Biomed Res Inst, Ctr Diabet Res, Dundee, Scotland [ 54 ] Univ Dundee, Ninewells Hosp, Biomed Res Inst, Pharmacogen Ctr, Dundee, Scotland [ 55 ] Lund Univ, Ctr Diabet, Dept Clin Sci Malmo, Novo Nordisk Scandinavia, Malmo, Sweden [ 56 ] Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland [ 57 ] Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland [ 58 ] Univ Helsinki, Cent Hosp, Unit Gen Practice, Helsinki, Finland [ 59 ] Folkhalsan Res Ctr, Helsinki, Finland [ 60 ] Childrens Hosp, Div Endocrinol, Boston, MA 02115 USA [ 61 ] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA [ 62 ] CNRS, UMR 8199, Inst Biol, Lille, France [ 63 ] Univ Lille 2, Inst Pasteur, Lille, France [ 64 ] NHLBI, Framingham Heart Study, Framingham, MA USA [ 65 ] Brigham & Womens Hosp, Div Endocrinol & Metab, Boston, MA 02115 USA [ 66 ] Harvard Univ, Sch Med, Boston, MA USA [ 67 ] Lund Univ, Dept Clin Sci, Malmo, Sweden [ 68 ] Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden [ 69 ] Karolinska Inst, Inst Environm Med, Div Cardiovasc Epidemiol, S-10401 Stockholm, Sweden [ 70 ] Kuopio Res Inst Exercise Med, Kuopio, Finland [ 71 ] Univ Dusseldorf, Leibniz Ctr Diabet Res, German Diabet Ctr, Inst Clin Diabetol, Dusseldorf, Germany [ 72 ] Partner Site Dusseldorf, German Ctr Diabet Res, Dusseldorf, Germany [ 73 ] Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, Nord Trondelag Hlth Study HUNT Res Ctr, Levanger, Norway [ 74 ] UCL, Inst Cardiovasc Sci, British Heart Fdn BHF Labs, Cardiovasc Genet, London, England [ 75 ] Harvard Univ, Sch Publ Hlth, Program Genet Epidemiol & Stat Genet, Boston, MA 02115 USA [ 76 ] Steno Diabet Ctr, DK-2820 Gentofte, Denmark [ 77 ] Capital Reg Denmark, Res Ctr Prevent & Hlth, Copenhagen, Denmark [ 78 ] Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark [ 79 ] Aalborg Univ, Fac Med, Aalborg, Denmark [ 80 ] Hannover Med Sch, Hannover Unified Biobank, Hannover, Germany [ 81 ] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany [ 82 ] Rigshosp, Copenhagen Univ Hosp, DK-2100 Copenhagen, Denmark [ 83 ] Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark [ 84 ] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Genet Epidemiol, Neuherberg, Germany [ 85 ] Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Guys & St Thomas Hosp, Genom Core Facil, Biomed Res Ctr, London, England [ 86 ] Univ Bonn, Inst Human Genet, Bonn, Germany [ 87 ] Univ Bonn, Life & Brain Ctr, Dept Genom, Bonn, Germany [ 88 ] Res Ctr Julich, Inst Neurosci & Med INM 1, Julich, Germany [ 89 ] Univ Munich, Univ Hosp Grosshadern, Dept Med 1, Munich, Germany [ 90 ] Univ Munich, Chair Genet Epidemiol, Inst Med Informat Biometry & Epidemiol, Neuherberg, Germany [ 91 ] Partner Site Munich Heart Alliance, DZHK German Ctr Cardiovasc Res, Munich, Germany [ 92 ] Inst Murciano Invest Biosanitaria Virgen de la Ar, Murcia Reg Hlth Council, Dept Epidemiol, Murcia, Spain [ 93 ] CIBERESP, Madrid, Spain [ 94 ] Univ Murcia, Dept Hlth & Social Sci, Murcia, Spain [ 95 ] Churchill Hosp, Biomed Res Ctr, Oxford Natl Inst Hlth Res, Oxford OX3 7LJ, England [ 96 ] Canc Res & Prevent Inst ISPO, Florence, Italy [ 97 ] Nord Trondelag Hlth Trust, Levanger Hosp, Dept Internal Med, Levanger, Norway [ 98 ] Univ Hosp Dusseldorf, Dept Endocrinol & Diabetol, Dusseldorf, Germany [ 99 ] Icahn Sch Med Mt Sinai, Dept Psychiat, Div Psychiat Genom, New York, NY 10029 USA [ 100 ] Boston Univ, Data Coordinating Ctr, Boston, MA 02215 USA [ 101 ] Univ Med Ctr Utrecht, Utrecht, Netherlands [ 102 ] Iceland Heart Assoc, Kopavogur, Iceland [ 103 ] Univ Eastern Finland, Dept Med, Kuopio, Finland [ 104 ] Kuopio Univ Hosp, SF-70210 Kuopio, Finland [ 105 ] Univ Ulm, Dept Clin Chem & Cent Lab, D-89069 Ulm, Germany [ 106 ] Univ Helsinki, Dept Publ Hlth, Hjelt Inst, Helsinki, Finland [ 107 ] Helsinki Univ Hosp, Abdominal Ctr, Dept Endocrinol, Helsinki, Finland [ 108 ] Univ Helsinki, Res Program Diabet & Obes, Helsinki, Finland [ 109 ] Erasmus Univ, Med Ctr, Dept Internal Med, Rotterdam, Netherlands [ 110 ] Univ Exeter, Sch Med, Genet Complex Traits, Exeter, Devon, England [ 111 ] European Mol Biol Lab, EBI, Hinxton, England [ 112 ] Germans Trias & Pujol Univ Hosp & Res Inst, Div Endocrinol, Badalona, Spain [ 113 ] Josep Carreras Leukaemia Res Inst, Badalona, Spain [ 114 ] CIBERDEM, Barcelona, Spain [ 115 ] Univ London Imperial Coll Sci Technol & Med, Dept Med, London, England [ 116 ] Inst Invest Biomed August Pi & Sunyer, Ctr Esther Koplowitz, Barcelona, Spain [ 117 ] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA [ 118 ] Harvard Univ, Sch Med, Dept Med, Boston, MA USA [ 119 ] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA [ 120 ] Massachusetts Gen Hosp, Diabet Res Ctr, Boston, MA 02114 USA [ 121 ] Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Houston, TX 77030 USA [ 122 ] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA [ 123 ] Univ Minnesota, Div Epidemiol & Community Hlth, Minneapolis, MN USA [ 124 ] Netherlands Consortium Hlth Ageing, Netherlands Genom Initiat, Rotterdam, Netherlands [ 125 ] Ctr Med Syst Biol, Rotterdam, Netherlands [ 126 ] Massachusetts Gen Hosp, Gen Med Div, Boston, MA 02114 USA [ 127 ] Univ Eastern Finland, Inst Biomed Physiol, Kuopio, Finland [ 128 ] Kuopio Univ Hosp, Dept Clin Physiol & Nucl Med, SF-70210 Kuopio, Finland [ 129 ] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden [ 130 ] Univ Uppsala Hosp, Dept Med Sci, Uppsala, Sweden [ 131 ] Univ Oulu, Inst Hlth Sci, Fac Med, Oulu, Finland [ 132 ] Oulu Univ Hosp, Unit Gen Practice, Oulu, Finland [ 133 ] South Ostrobothnia Cent Hosp, Seinajoki, Finland [ 134 ] Finnish Diabet Assoc, Tampere, Finland [ 135 ] Pirkanmaa Dist Hosp, Tampere, Finland [ 136 ] Cent Finland Cent Hosp, Dept Med, Jyvasklya, Finland [ 137 ] Univ Tartu, Inst Mol & Cell Biol, EE-50090 Tartu, Estonia [ 138 ] Univ Duisdurg Essen, Univ Hosp Essen, West German Heart Ctr, Clin Cardiol, Essen, Germany [ 139 ] Natl Inst Hlth & Welf, Publ Hlth Genom Unit, Helsinki, Finland [ 140 ] Univ Med Ctr Ulm, Dept Internal Med, Div Endocrinol & Diabet, Ulm, Germany [ 141 ] Univ London Imperial Coll Sci Technol & Med, Lee Kong Chian Sch Med, London SW7 2AZ, England [ 142 ] Nanyang Technol Univ, Singapore 639798, Singapore [ 143 ] Cedars Sinai Med Ctr, Diabet & Obes Res Inst, Los Angeles, CA 90048 USA [ 144 ] Univ N Carolina, Dept Genet, Chapel Hill, NC USA [ 145 ] Univ Helsinki, Cent Hosp, Dept Med, Div Endocrinol, Helsinki, Finland [ 146 ] Minerva Fdn, Helsinki, Finland [ 147 ] Hosp Univ La Paz, Inst Invest Sanitaria, Madrid, Spain [ 148 ] Danube Univ Krems, Ctr Vasc Prevent, Krems, Austria [ 149 ] King Abdulaziz Univ, Diabet Res Grp, Jeddah 21413, Saudi Arabia [ 150 ] Univ Tromso, Fac Hlth Sci, Dept Community Med, Tromso, Norway [ 151 ] Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England [ 152 ] Univ Oxford, Dept Stat, Oxford OX1 3TG, England [ 153 ] Univ Exeter, Sch Med, Inst Biomed & Clin Sci, Exeter, Devon, England [ 154 ] Ctr Hosp Univ Montreal, Ctr Rech, Montreal Diabet Res Ctr, Montreal, PQ, Canada [ 155 ] McGill Univ, Montreal, PQ, Canada [ 156 ] Genome Quebec Innovat Ctr, Montreal, PQ, Canada [ 157 ] Univ Southern Denmark, Fac Hlth Sci, Odense, Denmark [ 158 ] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland [ 159 ] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA [ 160 ] Univ Cambridge, Metab Res Labs, Wellcome Trust MRC Inst Metab Sci, Cambridge, England [ 161 ] Cambridge Biomed Res Ctr, Natl Inst Hlth Res, Cambridge, England [ 162 ] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA [ 163 ] Harvard Univ, Sch Med, Dept Mol Biol, Boston, MA USA [ 164 ] Univ Liverpool, Dept Biostat, Liverpool L69 3BX, Merseyside, England [ 165 ] Univ Liverpool, Dept Mol & Clin Pharmacol, Liverpool L69 3BX, Merseyside, England, Luan, Jian'an [0000-0003-3137-6337], Perry, John [0000-0001-6483-3771], Barroso, Ines [0000-0001-5800-4520], Langenberg, Claudia [0000-0002-5017-7344], Wareham, Nicholas [0000-0003-1422-2993], and Apollo - University of Cambridge Repository
Subjects: endocrine system diseases, Medizin, Genome-wide association study, Glucose homeostasis, WIDE ASSOCIATION, Association mapping, Non-U.S. Gov't, Genome-Wide Association Study, Regulation of gene expression, Genetics, Genetics & Heredity, LARGE-SCALE ASSOCIATION, Research Support, Non-U.S. Gov't, COMMON VARIANTS, Chromosome Mapping, 11 Medical And Health Sciences, Genomics, 3. Good health, TRANSCRIPTION FACTORS, Liver, Hepatocyte Nuclear Factor 3-beta, Medical Genetics, Life Sciences & Biomedicine, Chromatin Immunoprecipitation, endocrine system, European Continental Ancestry Group/genetics, Biology, GENOTYPE IMPUTATION, Research Support, INSULIN-SECRETION, Polymorphism, Single Nucleotide, Article, N.I.H, Sykursýki, Islets of Langerhans, SDG 3 - Good Health and Well-being, Research Support, N.I.H., Extramural, HUMAN PANCREATIC-ISLETS, GLYCEMIC TRAITS, Journal Article, SNP, Humans, Genetic Predisposition to Disease, Comparative Study, Enhancer, Medicinsk genetik, Science & Technology, Binding Sites, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Receptor, Melatonin, MT2, Extramural, Molecular Sequence Annotation, Arfgengi, 06 Biological Sciences, Genetic Predisposition to Disease/genetics, BETA-CELL, Diabetes Mellitus, Type 2/genetics, Diabetes Mellitus, Type 2, Gene Expression Regulation, Genetic Loci, Case-Control Studies, Gene-Environment Interaction, GLUCOSE-HOMEOSTASIS, Chromatin immunoprecipitation, Developmental Biology
Abstract: To access publisher's full text version of this article click on the hyperlink at the bottom of the page We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease. cademy of Finland 77299 102318 10493 118065 123885 124243 129293 129680 136895 139635 211119 213506 251217 263836 Agence National de la Recherche Association de Langue Francaise pour l'Etude du Diabete et des Maladies Metaboliques Association Diabeete Risque Vasculaire Association Francaise des Diabetiques Association of Danish Pharmacies Augustinus Foundation Becket Foundation British Diabetes Association (BDA) Research British Heart Foundation Central Norway Health Authority Central Finland Hospital District Center for Inherited Disease Research (CIDR) City of Kuopio City of Leutkirch Copenhagen County Danish Centre for Evaluation and Health Technology Assessment Danish Council for Independent Research Danish Heart Foundation Danish Research Councils Deutsche Forschungsgemeinschaft ER 155/6-2 Diabetes Research Foundation Diabetes UK Doris Duke Charitable Foundation Erasmus Medical Center Erasmus University Estonian government SF0180142s08 European Commission ENGAGE HEALTH-F4-2007-201413 FP7-201413 FP7-245536 EXGENESIS LSHM-CT-2004-005272 FP6 LSHM_CT_2006_037197 LSHM-CT-2007-037273 C-Public Health 2004310 European Regional Development Fund Federal Ministry of Education and Research, Germany FKZ 01GI1128 FKZ 01EO1001 Federal Ministry of Health, Germany Finnish Diabetes Association Finnish Diabetes Research Foundation Finnish Foundation for Cardiovascular Research Finnish Medical Society Folkhalsan Research Foundation Foundation for Life and Health in Finland Foundation for Old Servants Fredrick och Ingrid Thuring Foundation French region of Nord-Pas-de-Calais (Contrat de Projets Etat-Region) German Center for Diabetes Research German Research Council GRK1041 German National Genome Research Network Groupe d'Etude des Maladies Metaboliques et Systemiques Health Care Centers in Vasa, Narpes and Korsholm, Finland Health Foundation Heinz Nixdorf Foundation Helmholtz Zentrum Munchen Helsinki University Central Hospital Research Foundation Hospital District of Southwest Finland Ib Henriksens Foundation IngaBritt and Arne Lundberg's Research Foundation 359 Karolinska Institutet Knut and Alice Wallenberg Foundation KAW 2009.0243 Kuopio University Hospital Lundbeck Foundation Magnus Bergvall Foundation Medical Faculty of University Duisburg-Essen Medical Research Council, UK G0000649 G0601261 Ministry for Health, Welfare and Sports, the Netherlands Ministry of Education and Culture, Finland 722 627 Ministry of Education, Culture and Science, the Netherlands Ministry of Health and Prevention, Denmark Ministry of Social Affairs and Health, Finland Ministry of Innovation, Science, Research and Technology of North Rhine-Westphalia, Germany Munich Center of Health Sciences Municipal Health Care Center and Hospital in Jakobstad, Finland municipality of Rotterdam, the Netherlands Narpes Health Care Foundation National Health Screening Service of Norway National Heart, Lung, and Blood Institute, USA HHSN268201100005C HHSN268201100006C HHSN268201100007C HHSN268201100008C HHSN268201100009C HHSN268201100010C HHSN268201100011C HHSN268201100012C N01HC25195 N02HL64278 R01HL087641 R01HL59367 R01HL086694 National Human Genome Research Institute, USA U01HG004402 N01HG65403 National Institute for Diabetes and Digestive and Kidney Diseases, USA R01DK078616 U01DK085526 K24DK080140 R01DK073490 National Institute for Health and Welfare, Finland National Institutes of Health, USA HHSN268200625226C UL1RR025005 R01DK062370 R01DK072193 1Z01HG000024 AG028555 AG08724 AG04563 AG10175 AG08861 U01HG004399 DK58845 CA055075 DK085545 DK098032 Netherlands Genomics Initiative Netherlands Organisation for Health Research and Development Netherlands Organisation of Scientific Research NOW Investments 175.010.2005.011 911-03-012 050-060-810 Nord-Trondelag County Council Nordic Center of Excellence in Disease Genetics Norwegian Institute of Public Health Norwegian Research Council Novo Nordisk Foundation Ollquist Foundation Oxford National Institute for Health Research (NIHR) Biomedical Research Centre Paavo Nurmi Foundation Paivikki and Sakari Sohlberg Foundation Perklen Foundation Pirkanmaa Hospital District, Finland Programme Hospitalier de Recherche Clinique Programme National de Recherche sur la Diabete Research Institute for Diseases in the Elderly 014-93-015 Robert Dawson Evans Endowment, Department of Medicine, Boston University School of Medicine and Boston Medical Center Royal Swedish Academy of Sciences Sarstedt, Germany Signe and Ane Gyllenberg Foundation Sigrid Juselius Foundation Slottery Machine Association, Finland Social Insurance Institution of Finland South OstroBothnia Hospital District state of Baden-Wurttemberg, Germany Stockholm County Council 560183 Swedish Cultural Foundation, Finland Swedish Diabetes Foundation Swedish e-science Research Center Swedish Foundation for Strategic Research Swedish Heart-Lung Foundation Swedish Research Council SFO EXODIAB 2009-1039 521-2010-3490 521-2007-4037 521-2008-2974 ANDIS 825-2010-5983 LUDC 349-2008-6589 8691 Swedish Society of Medicine Tore Nilsson Foundation Torsten and Ragnar Soderbergs Stiftelser MT33/09 University Hospital Essen University of Tromso University College London NIHR Biomedical Research Centre UK NIHR Cambridge Biomedical Research Centre Uppsala University Uppsala University Hospital Vaasa Hospital District Velux Foundation Wellcome Trust GR072960 076113 083948 090367 090532 083270 086596 098017 095101 098051 098381
Published: 2015
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10. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Author: Tom Forsén, Lars Lind, Shobha Potluri, Leif Groop, Yik Ying Teo, Andrew P. Morris, Frank Burslem, Jason Flannick, Torben Jørgensen, Tanya M. Teslovich, Noël P. Burtt, Jaspal S. Kooner, Patrick Sulem, Nicola L. Beer, Sekar Kathiresan, Ivan Brandslund, Heather M. Stringham, James G. Wilson, Jeff K. Trimmer, Valgerdur Steinthorsdottir, Cecilia M. Lindgren, Zachary Dymek, Yossi Farjoun, Tim Rolph, Unnur Thorsteinsdottir, Karen L. Mohlke, Jaakko Tuomilehto, John C. Chambers, Gudmar Thorleifsson, Rasmus Ribel-Madsen, Anubha Mahajan, Christian Fuchsberger, Jasmina Kravic, Kari Stefansson, Benjamin F. Voight, Craig L. Hanis, John Blangero, Veikko Salomaa, Desiree Douglas, Rafn Benediktsson, Benjamin Glaser, David R. Cox, Ann Marie Richard, Torben Hansen, Hanna Skärstrand, Gil Atzmon, Pål R. Njølstad, Suzanne B.R. Jacobs, Erik Ingelsson, Bo Isomaa, Yoon Shin Cho, Ayellet V. Segrè, Julia Brosnan, Thomas Meitinger, David Altshuler, Kristian Hveem, Astradur B. Hreidarsson, Pierre Fontanillas, Gisli Masson, Daniel F. Gudbjartsson, Cramer Christensen, Tiinamaija Tuomi, Augustine Kong, Fariba Vaziri-Sani, Anders Molven, Rainer Rauramaa, Niels Grarup, Stacey Gabriel, Michael Boehnke, Ravindranath Duggirala, Donald W. Bowden, Oluf Pedersen, Marit E. Jørgensen, Markku Laakso, Jong-Young Lee, Stefan Johansson, E. Shyong Tai, Allan Linneberg, Mark I. McCarthy, Timothy Fennell, and [ 1 ] Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA 02141 USA [ 2 ] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA [ 3 ] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA [ 4 ] Amgen Inc, deCODE Genet, Reykjavik, Iceland [ 5 ] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England [ 6 ] Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn,Ctr Basic Metab Res, Copenhagen, Denmark [ 7 ] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England [ 8 ] Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA [ 9 ] Albert Einstein Coll Med, Dept Med, Bronx, NY 10467 USA [ 10 ] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA [ 11 ] Landspitali Univ Hosp, Dept Endocrinol & Metab, Reykjavik, Iceland [ 12 ] Texas Biomed Res Inst, Dept Genet, San Antonio, TX USA [ 13 ] Wake Forest Univ, Bowman Gray Sch Med, Ctr Genom & Personalized Med Res, Winston Salem, NC USA [ 14 ] Wake Forest Univ, Bowman Gray Sch Med, Ctr Diabet Res, Winston Salem, NC USA [ 15 ] Wake Forest Univ, Bowman Gray Sch Med, Dept Biochem, Winston Salem, NC USA [ 16 ] Wake Forest Univ, Bowman Gray Sch Med, Dept Internal Med, Winston Salem, NC USA [ 17 ] Vejle Hosp, Dept Clin Biochem, Vejle, Denmark [ 18 ] Univ Southern Denmark, Inst Reg Hlth Res, Odense, Denmark [ 19 ] Pfizer Inc, Cardiovasc & Metab Dis Res Unit, Cambridge, MA USA [ 20 ] Prescient Life Sci, Cardiovasc & Metab Dis Practice, London, England [ 21 ] Univ London Imperial Coll Sci Technol & Med, Dept Epidemiol & Biostat, London, England [ 22 ] Univ London Imperial Coll Sci Technol & Med, Healthcare Natl Hlth Serv NHS Trust, London, England [ 23 ] Ealing Hosp NHS Trust, Southall, Middx, England [ 24 ] Hallym Univ, Dept Biomed Sci, Chunchon, South Korea [ 25 ] Vejle Hosp, Dept Internal Med & Endocrinol, Vejle, Denmark [ 26 ] Lund Univ, Dept Clin Sci, Unit Diabet & Celiac Dis, Malmo, Sweden [ 27 ] Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland [ 28 ] Vaasa Hlth Care Ctr, Diabetes Care Unit, Vaasa, Finland [ 29 ] Hadassah Hebrew Univ, Med Ctr, Endocrinol & Metab Serv, Jerusalem, Israel [ 30 ] IDRG, Holon, Israel [ 31 ] Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Houston, TX 77030 USA [ 32 ] Univ Southern Denmark, Fac Hlth Sci, Odense, Denmark [ 33 ] Norwegian Univ Sci & Technol, Fac Med, Dept Publ Hlth, Levanger, Norway [ 34 ] Uppsala Univ, Dept Med Sci, Mol Epidemiol & Sci Life Lab, Uppsala, Sweden [ 35 ] Folkhalsan Res Ctr, Helsinki, Finland [ 36 ] Dept Social Serv & Hlth Care, Pietarsaari, Finland [ 37 ] Univ Bergen, KG Jebsen Ctr Diabet Res, Dept Clin Sci, Bergen, Norway [ 38 ] Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway [ 39 ] Univ Bergen, Dept Biomed, Bergen, Norway [ 40 ] Glostrup Univ Hosp, Res Ctr Prevent & Hlth, Glostrup, Denmark [ 41 ] Univ Copenhagen, Fac Hlth & Med, Copenhagen, Denmark [ 42 ] Aalborg Univ, Fac Med, Aalborg, Denmark [ 43 ] Steno Diabet Ctr, DK-2820 Gentofte, Denmark [ 44 ] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA [ 45 ] Massachusetts Gen Hosp, Cardiovasc Res Ctr, Div Cardiol, Boston, MA 02114 USA [ 46 ] Harvard Univ, Sch Med, Dept Med, Boston, MA USA [ 47 ] Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, NHLI, London, England [ 48 ] Lund Univ, Ctr Diabet, Dept Clin Sci Diabet & Endocrinol, Malmo, Sweden [ 49 ] Univ Eastern Finland, Dept Med, Kuopio, Finland [ 50 ] Kuopio Univ Hosp, SF-70210 Kuopio, Finland [ 51 ] Korea Natl Inst Hlth, Osong Hlth Technol, Ctr Genome Sci, Seoul, Chungcheongbuk, South Korea [ 52 ] Uppsala Univ, Dept Med Sci, Uppsala, Sweden [ 53 ] Glostrup Univ Hosp, Dept Clin Expt Res, Glostrup, Denmark [ 54 ] Tech Univ Munich, Inst Human Genet, D-80290 Munich, Germany [ 55 ] Univ N Carolina, Dept Genet, Chapel Hill, NC USA [ 56 ] Univ Bergen, Dept Clin Med, Gade Lab Pathol, Bergen, Norway [ 57 ] Haukeland Hosp, Dept Pathol, N-5021 Bergen, Norway [ 58 ] Univ Liverpool, Dept Biostat, Liverpool L69 3BX, Merseyside, England [ 59 ] Pfizer Inc, Appl Quantitat Genotherapeut, San Francisco, CA USA [ 60 ] Kuopio Res Inst Exercise Med, Kuopio, Finland [ 61 ] Kuopio Univ Hosp, Dept Clin Physiol & Nucl Med, SF-70210 Kuopio, Finland [ 62 ] Natl Inst Hlth & Welf THL, Helsinki, Finland [ 63 ] Natl Univ Singapore, Natl Univ Hlth Syst, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore [ 64 ] Natl Univ Singapore, Natl Univ Hlth Syst, Dept Med, Singapore 117548, Singapore [ 65 ] Duke Natl Univ Singapore, Grad Sch Med, Dept Med, Singapore, Singapore [ 66 ] Natl Univ Singapore, Ctr Mol Epidemiol, Singapore 117548, Singapore [ 67 ] Genome Inst Singapore, Agcy Sci Technol & Res, Singapore, Singapore [ 68 ] Natl Univ Singapore, Grad Sch Integrat Sci & Engn, Singapore 117548, Singapore [ 69 ] Natl Univ Singapore, Dept Stat & Appl Probabil, Singapore 117548, Singapore [ 70 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 71 ] Danube Univ Krems, Ctr Vasc Prevent, Krems, Austria [ 72 ] Natl Inst Hlth & Welf, Diabetes Prevent Unit, Helsinki, Finland [ 73 ] King Abdulaziz Univ, Diabet Res Grp, Jeddah 21413, Saudi Arabia [ 74 ] Univ Penn, Perelman Sch Med, Dept Pharmacol, Philadelphia, PA 19104 USA [ 75 ] Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA [ 76 ] Univ Mississippi, Med Ctr, Dept Phys & Biophys, Jackson, MS 39216 USA [ 77 ] Churchill Hosp, Hlth Res NIHR Biomed Res Ctr, Oxford Natl Inst, Oxford, England [ 78 ] Haukeland Hosp, Dept Pediat, N-5021 Bergen, Norway [ 79 ] Univ Helsinki, Finnish Inst Mol Med FIMM, Helsinki, Finland [ 80 ] Harvard Univ, Sch Med, Dept Genet, Boston, MA USA [ 81 ] MIT, Dept Biol, Cambridge, MA 02139 USA
Subjects: Blood Glucose, endocrine system diseases, Genotype, Ion Transport/genetics, Molecular Sequence Data, Mutation, Missense, Genome-wide association study, Blood Glucose/genetics, Zinc Transporter 8, Biology, medicine.disease_cause, Insúlín, Frameshift mutation, Sykursýki, Mutation, Missense/genetics, Mice, Cation Transport Proteins/genetics, Genetics, medicine, Glucose homeostasis, Animals, Humans, Cation Transport Proteins, Genetic Association Studies, Mice, Knockout, Mutation, Ion Transport, SLC30A8, Base Sequence, Genetic heterogeneity, nutritional and metabolic diseases, Sequence Analysis, DNA, Arfgengi, Blóðsykur, 3. Good health, Proinsulin/blood, Diabetes Mellitus, Type 2/genetics, Diabetes Mellitus, Type 2, biology.protein, Haploinsufficiency, Proinsulin
Abstract: Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open Loss-of-function mutations protective against human disease provide in vivo validation of therapeutic targets, but none have yet been described for type 2 diabetes (T2D). Through sequencing or genotyping of ~150,000 individuals across 5 ancestry groups, we identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk and glucose and proinsulin levels. Collectively, carriers of protein-truncating variants had 65% reduced T2D risk (P = 1.7 × 10(-6)), and non-diabetic Icelandic carriers of a frameshift variant (p.Lys34Serfs*50) demonstrated reduced glucose levels (-0.17 s.d., P = 4.6 × 10(-4)). The two most common protein-truncating variants (p.Arg138* and p.Lys34Serfs*50) individually associate with T2D protection and encode unstable ZnT8 proteins. Previous functional study of SLC30A8 suggested that reduced zinc transport increases T2D risk, and phenotypic heterogeneity was observed in mouse Slc30a8 knockouts. In contrast, loss-of-function mutations in humans provide strong evidence that SLC30A8 haploinsufficiency protects against T2D, suggesting ZnT8 inhibition as a therapeutic strategy in T2D prevention. US National Institutes of Health (NIH) Training 5-T32-GM007748-33 Doris Duke Charitable Foundation 2006087 Fulbright Diabetes UK Fellowship BDA 11/0004348 Broad Institute from Pfizer, Inc. NIH U01 DK085501 U01 DK085524 U01 DK085545 U01 DK085584 Swedish Research Council Dnr 521-2010-3490 Dnr 349-2006-237 European Research Council (ERC) GENETARGET T2D GA269045 ENGAGE 2007-201413 CEED3 2008-223211 Sigrid Juselius Foundation Folkh lsan Research Foundation ERC AdG 293574 Research Council of Norway 197064/V50 KG Jebsen Foundation University of Bergen Western Norway Health Authority Lundbeck Foundation Novo Nordisk Foundation Wellcome Trust WT098017 WT064890 WT090532 WT090367 WT098381 Uppsala University Swedish Research Council and the Swedish Heart- Lung Foundation Academy of Finland 124243 102318 123885 139635 Finnish Heart Foundation Finnish Diabetes Foundation, Tekes 1510/31/06 Commission of the European Community HEALTH-F2-2007-201681 Ministry of Education and Culture of Finland European Commission Framework Programme 6 Integrated Project LSHM-CT-2004-005272 City of Kuopio and Social Insurance Institution of Finland Finnish Foundation for Cardiovascular Disease NIH/NIDDK U01-DK085545 National Heart, Lung, and Blood Institute (NHLBI) National Institute on Minority Health and Health Disparities N01 HC-95170 N01 HC-95171 N01 HC-95172 European Union Seventh Framework Programme, DIAPREPP Swedish Child Diabetes Foundation (Barndiabetesfonden) 5U01DK085526 DK088389 U54HG003067 R01DK072193 R01DK062370 Z01HG000024 info:eu-repo/grantAgreement/EC/FP7/202013
Published: 2014
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11. Population structure and geographical subdivision of the Leishmania major vector Phlebotomus papatasi as revealed by microsatellite variation

Author: Omar Hamarsheh, Gabriele Schönian, M. L. Das, Amer Al-Jawabreh, M. Hassan, Y. Hashiguchi, Ramesh C. Dhiman, Ahmad Amro, Ahmad Al-Lahem, Wolfgang Presber, J. Ghrab, N. Seridi, Samir S. Sawalha, Souad Guernaoui, Mohammad Reza Yaghoobi-Ershadi, Dept Biol Sci, Al-Quds University, Dept Parasitol, Charite, Inst Microbiol & Hyg, University of Tehran, Dept Med Entomol & Vector Control, Tehran University, Leishmaniasis Res Lab, Leishmania Res Unit, Jericho, Dept Primary Hlth Care, Minist Hlth, Dept Zool, University of Aleppo [Aleppo], Dept Microbiol, BP Koirala Inst Hlth Sci, Lab Ecol Anim Terrestre, Faculté des Sciences Semlalia, Genet Lab, USTHB, Fac Biol Sci, Natl Inst Malaria Res ICMR, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Natl Res Ctr, Res Inst Trop Med, and Kochi Univ, Kochi Med Sch
Subjects: sandflies, Genotype, [SDV]Life Sciences [q-bio], 030231 tropical medicine, Population, Population Dynamics, Population genetics, India, microsatellites, 03 medical and health sciences, Middle East, 0302 clinical medicine, Nepal, Animals, Psychodidae, education, Phlebotomus papatasi, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Leishmania major, Genetics, 0303 health sciences, education.field_of_study, General Veterinary, biology, population structure, biology.organism_classification, Sandfly, Insect Vectors, F-statistics, Evolutionary biology, Insect Science, Phlebotomus, Genetic structure, Africa, Microsatellite, Biological dispersal, Parasitology
Abstract: International audience; Multi-locus microsatellite typing (MLMT) has been employed to infer the population structure of Phlebotomus papatasi (Scopoli) (Diptera: Psychodidae) sandflies and assign individuals to populations. Phlebotomus papatasi sandflies were collected from 35 sites in 15 countries. A total of 188 P. papatasi individuals were typed using five microsatellite loci, resulting in 113 different genotypes. Unique microsatellite signatures were observed for some of the populations analysed. Comparable results were obtained when the data were analysed with Bayesian model and distance-based methods. Bayesian statistic-based analyses split the dataset into two distinct genetic clusters, A and B, with further substructuring within each. Population A consisted of five subpopulations representing large numbers of alleles that were correlated with the geographical origins of the sandflies. Cluster B comprised individuals collected in the Middle East and the northern Mediterranean area. The subpopulations B1 and B2 did not, however, show any further correlation to geographical origin. The genetic differentiation between subpopulations was supported by F statistics showing statistically significant (Bonferroni-corrected P < 0.005) values of 0.221 between B2 and B1 and 0.816 between A5 and A4. Identification of the genetic structure of P. papatasi populations is important for understanding the patterns of dispersal of this species and to developing strategies for sandfly control.
Published: 2009
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11 results on '"Primary Hlth Care"'

1. Cognitive impairment in a primary healthcare population: a cross-sectional study on the island of Crete, Greece

2. Residual normal B-cell profiles in monoclonal B-cell lymphocytosis versus chronic lymphocytic leukemia

3. Risk of Cause-Specific Death in Individuals With Diabetes: A Competing Risks Analysis

4. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight NCD Risk Factor Collaboration (NCD-RisC)

5. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

6. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

7. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

8. HLA class II sequence variants influence tuberculosis risk in populations of European ancestry

9. Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

10. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

11. Population structure and geographical subdivision of the Leishmania major vector Phlebotomus papatasi as revealed by microsatellite variation

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