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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Authors
  • Flannick, Jason1, 2, 3, 4
  • Mercader, Josep M.1, 4, 5, 6, 7
  • Fuchsberger, Christian8, 9, 10
  • Udler, Miriam S.1, 4, 5, 6, 7
  • Mahajan, Anubha11, 12
  • Wessel, Jennifer13, 14, 15
  • Teslovich, Tanya M.16
  • Caulkins, Lizz1, 4
  • Koesterer, Ryan1, 4
  • Barajas-Olmos, Francisco17
  • Blackwell, Thomas W.8, 10
  • Boerwinkle, Eric18, 19
  • Brody, Jennifer A.20
  • Centeno-Cruz, Federico17
  • Chen, Ling6, 7
  • Chen, Siying8, 10
  • Contreras-Cubas, Cecilia17
  • Córdova, Emilio17
  • Correa, Adolfo21
  • Cortes, Maria22
  • And 144 more
  • 1 Broad Institute, Program in Metabolism, Cambridge, MA, USA , Cambridge (United States)
  • 2 Boston Children’s Hospital, Division of Genetics and Genomics, Boston, MA, USA , Boston (United States)
  • 3 Harvard Medical School, Department of Pediatrics, Boston, MA, USA , Boston (United States)
  • 4 Broad Institute, Program in Medical & Population Genetics, Cambridge, MA, USA , Cambridge (United States)
  • 5 Massachusetts General Hospital, Center for Genomic Medicine, Boston, MA, USA , Boston (United States)
  • 6 Massachusetts General Hospital, Diabetes Research Center (Diabetes Unit), Boston, MA, USA , Boston (United States)
  • 7 Harvard Medical School, Department of Medicine, Boston, MA, USA , Boston (United States)
  • 8 University of Michigan, Department of Biostatistics, Ann Arbor, MI, USA , Ann Arbor (United States)
  • 9 Eurac Research, Institute for Biomedicine, Bolzano, Italy , Bolzano (Italy)
  • 10 University of Michigan, Center for Statistical Genetics, Ann Arbor, MI, USA , Ann Arbor (United States)
  • 11 University of Oxford, Wellcome Centre for Human Genetics, Nuffield Department of Medicine, Oxford, UK , Oxford (United Kingdom)
  • 12 University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford, UK , Oxford (United Kingdom)
  • 13 Indiana University, Department of Epidemiology, Fairbanks School of Public Health, Indianapolis, IN, USA , Indianapolis (United States)
  • 14 Indiana University, Department of Medicine, School of Medicine, Indianapolis, IN, USA , Indianapolis (United States)
  • 15 Indiana University, Diabetes Translational Research Center, Indianapolis, IN, USA , Indianapolis (United States)
  • 16 Regeneron Pharmaceuticals, Regeneron Genetics Center, Tarrytown, NY, USA , Tarrytown (United States)
  • 17 Instituto Nacional de Medicina Genómica, Mexico City, Mexico , Mexico City (Mexico)
  • 18 The University of Texas Health Science Center at Houston, Human Genetics Center, Department of Epidemiology Human Genetics and Environmental Sciences, School of Public Health, Houston, TX, USA , Houston (United States)
  • 19 Baylor College of Medicine, Human Genome Sequencing Center, Houston, TX, USA , Houston (United States)
  • 20 University of Washington, Cardiovascular Research Unit, Department of Medicine, Seattle, WA, USA , Seattle (United States)
  • 21 University of Mississippi Medical Center, Department of Medicine, Jackson, MS, USA , Jackson (United States)
  • 22 Broad Institute of MIT and Harvard, Cambridge, MA, USA , Cambridge (United States)
  • 23 University of Texas Health Science Center, Department of Medicine, San Antonio, TX, USA , San Antonio (United States)
  • 24 Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA , Cincinnati (United States)
  • 25 George Washington University, Biostatistics Center, Rockville, MD, USA , Rockville (United States)
  • 26 University of Washington, Department of Medicine and Epidemiology, Seattle, WA, USA , Seattle (United States)
  • 27 The University of Chicago, Department of Medicine, Chicago, IL, USA , Chicago (United States)
  • 28 The University of Chicago, Department of Human Genetics, Chicago, IL, USA , Chicago (United States)
  • 29 University of Minnesota, Department of Laboratory Medicine and Pathology, Minneapolis, MN, USA , Minneapolis (United States)
  • 30 Center for Genome Science, National Institute of Health, Division of Genome Research, Chungcheongbuk-do, South Korea , Chungcheongbuk-do (South Korea)
  • 31 Boston University School of Medicine, Department of Neurology, Boston, MA, USA , Boston (United States)
  • 32 National Heart Lung and Blood Institute’s Framingham Heart Study, Framingham, MA, USA , Framingham (United States)
  • 33 Steno Diabetes Center Copenhagen, Gentofte, Denmark , Gentofte (Denmark)
  • 34 University of Southern Denmark, National Institute of Public Health, Copenhagen, Denmark , Copenhagen (Denmark)
  • 35 University of Greenland, Greenland Centre for Health Research, Nuuk, Greenland , Nuuk (Greenland)
  • 36 National Institute for Health and Welfare, Department of Public Health Solutions, Helsinki, Finland , Helsinki (Finland)
  • 37 Helsinki University Central Hospital, University of Helsinki and Department of Medicine, Helsinki, Finland , Helsinki (Finland)
  • 38 Minerva Foundation Institute for Medical Research, Helsinki, Finland , Helsinki (Finland)
  • 39 University of Eastern Finland, Institute of Clinical Medicine, Internal Medicine, Kuopio, Finland , Kuopio (Finland)
  • 40 Kuopio University Hospital, Department of Medicin, Kuopio, Finland , Kuopio (Finland)
  • 41 Geisinger Health System, Danville, PA, USA , Danville (United States)
  • 42 University of Copenhagen, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Copenhagen, Denmark , Copenhagen (Denmark)
  • 43 Bispebjerg and Frederiksberg Hospital, Center for Clinical Research and Prevention, Copenhagen, Denmark , Copenhagen (Denmark)
  • 44 Rigshospitalet, Department of Clinical Experimental Research, Copenhagen, Denmark , Copenhagen (Denmark)
  • 45 Boston University School of Public Health, Department of Biostatistics, Boston, MA, USA , Boston (United States)
  • 46 Agency for Science Technology and Research, Genome Institute of Singapore, Singapore, Singapore , Singapore (Singapore)
  • 47 National University of Singapore, National University Health System, Department of Medicine, Yong Loo Lin School of Medicine, Singapore, Singapore , Singapore (Singapore)
  • 48 National University of Singapore, Saw Swee Hock School of Public Health, Singapore, Singapore , Singapore (Singapore)
  • 49 Lund University Diabetes Centre, Department of Clinical Sciences, Diabetes and Endocrinology, Malmö, Sweden , Malmö (Sweden)
  • 50 University of Bergen, Department of Clinical Science, Bergen, Norway , Bergen (Norway)
  • 51 Massachusetts General Hospital, Harvard University, Clinical and Translational Epidemiology Unit, Boston, MA, USA , Boston (United States)
  • 52 University of North Carolina Chapel Hill, Chapel Hill, NC, USA , Chapel Hill (United States)
  • 53 University of North Carolina Chapel Hill, Department of Genetics, Chapel Hill, NC, USA , Chapel Hill (United States)
  • 54 Wake Forest School of Medicine, Center for Diabetes Research, Winston-Salem, NC, USA , Winston-Salem (United States)
  • 55 Wake Forest School of Medicine, Center for Genomics and Personalized Medicine Research, Winston-Salem, NC, USA , Winston-Salem (United States)
  • 56 Wake Forest School of Medicine, Department of Biochemistry, Winston-Salem, NC, USA , Winston-Salem (United States)
  • 57 Seattle Children’s Hospital, Seattle, WA, USA , Seattle (United States)
  • 58 Johns Hopkins University, Division of Cardiology, Department of Medicine, Baltimore, MD, USA , Baltimore (United States)
  • 59 Mount Sinai School of Medicine, Charles R. Bronfman Institute of Personalized Medicine, New York, NY, USA , New York (United States)
  • 60 University of Washington, Cardiovascular Health Research Unit, Seattle, WA, USA , Seattle (United States)
  • 61 Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA , Seattle (United States)
  • 62 University of Washington, Department of Medicine, Seattle, WA, USA , Seattle (United States)
  • 63 University of Washington, Department of Epidemiology, Seattle, WA, USA , Seattle (United States)
  • 64 University of Washington, Department of Health Services, Seattle, WA, USA , Seattle (United States)
  • 65 Boston University School of Medicine, Preventive Medicine & Epidemiology, Medicine, Boston, MA, USA , Boston (United States)
  • 66 Wellcome Trust Sanger Institute, Department of Human Genetics, Hinxton, UK , Hinxton (United Kingdom)
  • 67 Instituto Mexicano del Seguro Social SXXI, Mexico City, Mexico , Mexico City (Mexico)
  • 68 Yale University, Department of Pediatrics, New Haven, CT, USA , New Haven (United States)
  • 69 The Chinese University of Hong Kong, Department of Medicine and Therapeutics, Hong Kong, China , Hong Kong (China)
  • 70 The Chinese University of Hong Kong, Li Ka Shing Institute of Health Sciences, Hong Kong, China , Hong Kong (China)
  • 71 The Chinese University of Hong Kong, Hong Kong Institute of Diabetes and Obesity, Hong Kong, China , Hong Kong (China)
  • 72 Technische Universität München, Institute of Human Genetics, Munich, Germany , Munich (Germany)
  • 73 German Research Center for Environmental Health, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany , Neuherberg (Germany)
  • 74 Faculty of Medicine, Kuwait University, Health Science Center, Department of Biochemistry, Safat, Kuwait , Safat (Kuwait)
  • 75 University of Vermont, Department of Pathology and Laboratory Medicine, The Robert Larner M.D. College of Medicine, Burlington, VT, USA , Burlington (United States)
  • 76 University of Vermont, Department of Biochemistry, The Robert Larner M.D. College of Medicine, Burlington, VT, USA , Burlington (United States)
  • 77 Harvard School of Public Health, Department of Nutrition, Boston, MA, USA , Boston (United States)
  • 78 University of Pennsylvania, Department of Biostatistics and Epidemiology, Philadelphia, PA, USA , Philadelphia (United States)
  • 79 Aarhus University, Department of Public Health, Aarhus, Denmark , Aarhus (Denmark)
  • 80 Danish Diabetes Academy, Odense, Denmark , Odense (Denmark)
  • 81 Singapore National Eye Centre, Singapore Eye Research Institute, Singapore, Singapore , Singapore (Singapore)
  • 82 Duke-NUS Medical School Singapore, Singapore, Singapore , Singapore (Singapore)
  • 83 National University of Singapore, National University Health System, Department of Ophthalmology, Yong Loo Lin School of Medicine, Singapore, Singapore , Singapore (Singapore)
  • 84 Albert Einstein College of Medicine, Department of Medicine, New York, NY, USA , New York (United States)
  • 85 University of Haifa, Faculty of Natural Science, Haifa, Israel , Haifa (Israel)
  • 86 Albert Einstein College of Medicine, Department of Genetics, New York, NY, USA , New York (United States)
  • 87 University of Texas Rio Grande Valley, Department of Human Genetics, Edinburg, TX, USA , Edinburg (United States)
  • 88 South Texas Diabetes and Obesity Institute, Brownsville, TX, USA , Brownsville (United States)
  • 89 National Institutes of Health, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA , Bethesda (United States)
  • 90 Imperial College London, Department of Epidemiology and Biostatistics, London, UK , London (United Kingdom)
  • 91 Ealing Hospital NHS Trust, Department of Cardiology, Southall, UK , Southall (United Kingdom)
  • 92 Imperial College London, Imperial College Healthcare NHS Trust, London, UK , London (United Kingdom)
  • 93 Duke-NUS Medical School, Ophthalmology & Visual Sciences Academic Clinical Program (Eye ACP), Singapore, Singapore , Singapore (Singapore)
  • 94 Hallym University, Department of Biomedical Science, Chuncheon, South Korea , Chuncheon (South Korea)
  • 95 Hadassah-Hebrew University Medical Center, Endocrinology and Metabolism Service, Jerusalem, Israel , Jerusalem (Israel)
  • 96 Instituto Nacional de Salud Pública, Unidad de Diabetes y Riesgo Cardiovascular, Cuernavaca, Mexico , Cuernavaca (Mexico)
  • 97 Centro de Estudios en Diabetes, Mexico City, Mexico , Mexico City (Mexico)
  • 98 University of Helsinki, Institute for Molecular Genetics Finland, Helsinki, Finland , Helsinki (Finland)
  • 99 Cardiovascular Sciences, Imperial College London, National Heart and Lung Institute, London, UK , London (United Kingdom)
  • 100 Seoul National University Hospital, Department of Internal Medicine, Seoul, South Korea , Seoul (South Korea)
  • 101 Medicine, Lund University, Department of Clinical Sciences, Malmö, Sweden , Malmö (Sweden)
  • 102 King’s College London, Department of Twin Research and Genetic Epidemiology, London, UK , London (United Kingdom)
  • 103 Folkhälsan Research Centre, Helsinki, Finland , Helsinki (Finland)
  • 104 Helsinki University Hospital, Department of Endocrinology, Abdominal Centre, Helsinki, Finland , Helsinki (Finland)
  • 105 University of Helsinki, Research Programs Unit, Diabetes and Obesity, Helsinki, Finland , Helsinki (Finland)
  • 106 National Institute for Health and Welfare, Diabetes Prevention Unit, Helsinki, Finland , Helsinki (Finland)
  • 107 Danube University Krems, Center for Vascular Prevention, Krems, Austria , Krems (Austria)
  • 108 King Abdulaziz University, Diabetes Research Group, Jeddah, Saudi Arabia , Jeddah (Saudi Arabia)
  • 109 University Hospital LaPaz, Autonomous University of Madrid, Instituto de Investigacion Sanitaria del Hospital Universario LaPaz (IdiPAZ), Madrid, Spain , Madrid (Spain)
  • 110 University of Mississippi Medical Center, Department of Physiology and Biophysics, Jackson, MS, USA , Jackson (United States)
  • 111 Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico , Mexico City (Mexico)
  • 112 Center for Non-Communicable Diseases, Karachi, Pakistan , Karachi (Pakistan)
  • 113 Chungbuk National University, Department of Business Data Convergence, Gyeonggi-do, South Korea , Gyeonggi-do (South Korea)
  • 114 Icahn School of Medicine at Mount Sinai, The Mindich Child Health and Development Insititute, New York, NY, USA , New York (United States)
  • 115 Ninewells Hospital and Medical School, Clinical Research Centre, Centre for Molecular Medicine, Dundee, UK , Dundee (United Kingdom)
  • 116 VA Boston Healthcare, Section of Cardiology, Department of Medicine, Boston, MA, USA , Boston (United States)
  • 117 Brigham and Women’s Hospital, Boston, MA, USA , Boston (United States)
  • 118 National Heart Lung and Blood Institute, NIH, Intramural Administration Management Branch, Framingham, MA, USA , Framingham (United States)
  • 119 Medical Research Institute, Ninewells Hospital and Medical School, Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Dundee, UK , Dundee (United Kingdom)
  • 120 University of Minnesota, Division of Epidemiology and Community Health, Minneapolis, MN, USA , Minneapolis (United States)
  • 121 Seoul National University, Department of Molecular Medicine and Biopharmaceutical Sciences, Graduate School of Convergence Science and Technology, Seoul, South Korea , Seoul (South Korea)
  • 122 Seoul National University College of Medicine, Department of Internal Medicine, Seoul, South Korea , Seoul (South Korea)
  • 123 National University of Singapore, Life Sciences Institute, Singapore, Singapore , Singapore (Singapore)
  • 124 National University of Singapore, Department of Statistics and Applied Probability, Singapore, Singapore , Singapore (Singapore)
  • 125 University of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA, USA , Los Angeles (United States)
  • 126 The University of Texas Health Science Center at Houston, Human Genetics Center, School of Public Health, Houston, TX, USA , Houston (United States)
  • 127 Universidad Nacional Autónoma de México, Instituto de Investigaciones Biomédicas, Departamento de Medicina Genómica y Toxicología, Mexico City, Mexico , Mexico City (Mexico)
  • 128 German Research Center for Environmental Health, Research Unit of Molecular Epidemiology, Institute of Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany , Neuherberg (Germany)
  • 129 German Center for Diabetes Research (DZD e.V.), Neuherberg, Germany , Neuherberg (Germany)
  • 130 Partner Site Munich Heart Alliance, Deutsches Forschungszentrum für Herz-Kreislauferkrankungen (DZHK), Munich, Germany , Munich (Germany)
  • 131 Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, Institute of Medical Informatics, Biometry and Epidemiology, Neuherberg, Germany , Neuherberg (Germany)
  • 132 University of Colorado Denver, Department of Medicine, Aurora, CO, USA , Aurora (United States)
  • 133 Faculty of Health and Medical Sciences, University of Copenhagen, Novo Nordisk Foundation Center for Basic Metabolic Research, Copenhagen, Denmark , Copenhagen (Denmark)
  • 134 University of Southern Denmark, Faculty of Health Sciences, Odense, Denmark , Odense (Denmark)
  • 135 University of Colorado Anschutz Medical Campus, Department of Pediatrics, Aurora, CO, USA , Aurora (United States)
  • 136 Colorado School of Public Health, Department of Epidemiology, Aurora, CO, USA , Aurora (United States)
  • 137 Vanderbilt University, Vanderbilt Genetics Institute, Nashville, TN, USA , Nashville (United States)
  • 138 University of California, San Francisco, Department of Laboratory Medicine & Institute for Human Genetics, San Francisco, CA, USA , San Francisco (United States)
  • 139 Blood Systems Research Institute, San Francisco, CA, USA , San Francisco (United States)
  • 140 McGill University, Montreal, Department of Human Genetics, Quebec, Canada , Quebec (Canada)
  • 141 McGill University, Division of Endocrinology and Metabolism, Department of Medicine, Montreal, Quebec, Canada , Montreal (Canada)
  • 142 McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada , Montreal (Canada)
  • 143 Massachusetts General Hospital, Division of General Internal Medicine, Boston, MA, USA , Boston (United States)
  • 144 University of Virginia School of Medicine, Center for Public Health Genomics, Charlottesville, VA, USA , Charlottesville (United States)
  • 145 Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Department of Pediatrics, Torrance, CA, USA , Torrance (United States)
  • 146 Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Department of Medicine, Torrance, CA, USA , Torrance (United States)
  • 147 Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Institute for Translational Genomics and Population Sciences, Torrance, CA, USA , Torrance (United States)
  • 148 Harvard Medical School, Department of Genetics, Boston, MA, USA , Boston (United States)
  • 149 Massachusetts Institute of Technology, Department of Biology, Cambridge, MA, USA , Cambridge (United States)
  • 150 Massachusetts General Hospital, Department of Molecular Biology, Boston, MA, USA , Boston (United States)
  • 151 University of Liverpool, Department of Biostatistics, Liverpool, UK , Liverpool (United Kingdom)
  • 152 Oxford University Hospitals Trust, Oxford NIHR Biomedical Research Centre, Oxford, UK , Oxford (United Kingdom)
Type
Published Article
Journal
Nature
Publisher
Springer Nature
Publication Date
May 22, 2019
Volume
570
Issue
7759
Pages
71–76
Identifiers
DOI: 10.1038/s41586-019-1231-2
Source
Springer Nature
License
Green

Abstract

Exome-sequencing analyses of a large cohort of patients with type 2 diabetes and control individuals without diabetes from five ancestries are used to identify gene-level associations of rare variants that are associated with type 2 diabetes.

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