Evidence map›Paper›PMID 27398621›Full record

ArticleNature2016

The genetic architecture of type 2 diabetes.

Christian Fuchsberger, Jason Flannick, Tanya M Teslovich, Anubha Mahajan, Vineeta Agarwala, Kyle J Gaulton, Clement Ma, Pierre Fontanillas, Loukas Moutsianas, Davis J McCarthy and 291 more

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 615 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
615citing papers in PubMed, 11 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04331535 naunknown statusnot on this mapstarted 2020, after this paper: background citation

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

TypeinterventionalSponsorBoston VA Research Institute, Inc.Ran2020 to 2025Enrolled1,076ConditionsCoronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal CancerArmsPolygenic risk score (PRS)
3 · Its place in the literature

Who cites it

615 citing papers in PubMed, 11 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
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  11. Pooled it
  12. Trial
  13. Article
  14. Article
  15. Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.medRxiv : the preprint server for health sciences · 2026
    Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

555 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

301 authors.

Christian Fuchsberger *Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Jason Flannick *Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Tanya M Teslovich *Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Anubha Mahajan *Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Vineeta Agarwala *Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Kyle J Gaulton *Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Clement MaDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Pierre FontanillasProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Loukas MoutsianasWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Davis J McCarthyWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Manuel A RivasWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
John R B PerryWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Xueling SimDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Thomas W BlackwellDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Neil R RobertsonWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
N William RaynerWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Pablo CingolaniSchool of Computer Science, McGill University, Montreal, Quebec, Canada.
Adam E LockeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Juan Fernandez TajesWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Heather M HighlandHuman Genetics Center, The University of Texas Graduate School of Biomedical Sciences at Houston, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Josee DupuisDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Peter S ChinesMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Cecilia M LindgrenProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Christopher HartlProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Anne U JacksonDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Han ChenDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Jeroen R HuygheDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Martijn van de BuntWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Richard D PearsonWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Ashish KumarWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Niels GrarupThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Heather M StringhamDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Eric R GamazonDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, Illinois, USA.
Jaehoon LeeDepartment of Statistics, Seoul National University, Seoul, Republic of Korea.
Yuhui ChenWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Robert A ScottMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Jennifer E BelowHuman Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Peng ChenSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Jinyan HuangDepartment of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Min Jin GoCenter for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea.
Michael L StitzelThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
Dorota PaskoGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
Stephen C J ParkerDepartments of Computational Medicine & Bioinformatics and Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Tibor V VargaDepartment of Clinical Sciences, Lund University Diabetes Centre, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, Sweden.
Todd GreenProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Nicola L BeerOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Aaron G Day-WilliamsDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Teresa FerreiraWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Tasha FingerlinDepartment of Epidemiology, Colorado School of Public Health, University of Colorado, Aurora, Colorado, USA.
Momoko HorikoshiWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Cheng HuDepartment of Endocrinology and Metabolism, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Iksoo HuhDepartment of Statistics, Seoul National University, Seoul, Republic of Korea.
Mohammad Kamran IkramSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Bong-Jo KimCenter for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea.
Yongkang KimDepartment of Statistics, Seoul National University, Seoul, Republic of Korea.
Young Jin KimCenter for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea.
Min-Seok KwonInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea.
Juyoung LeeCenter for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea.
Selyeong LeeDepartment of Statistics, Seoul National University, Seoul, Republic of Korea.
Keng-Han LinDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Taylor J MaxwellHuman Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Yoshihiko NagaiMcGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Xu WangSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Ryan P WelchDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Joon YoonInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul, Republic of Korea.
Weihua ZhangDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
Nir BarzilaiDepartments of Medicine and Genetics, Albert Einstein College of Medicine, New York, USA.
Benjamin F VoightDepartment of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania - Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Bok-Ghee HanCenter for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea.
Christopher P JenkinsonDepartment of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA.
Teemu KuulasmaaFaculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Johanna KuusistoFaculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Alisa ManningProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Maggie C Y NgCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Nicholette D PalmerCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Beverley BalkauCentre for Research in Epidemiology and Population Health, Inserm U1018, Villejuif, France.
Alena StančákováFaculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Hanna E AbboudDepartment of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA.
Heiner BoeingGerman Institute of Human Nutrition Potsdam-Rehbruecke, Nuthetal, Germany.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences, Geriatrics, Uppsala University, Uppsala, Sweden.
Dorairaj PrabhakaranCentre for Chronic Disease Control, New Delhi, India.
Omri GottesmanThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, USA.
James ScottNational Heart and Lung Institute, Cardiovascular Sciences, Hammersmith Campus, Imperial College London, London, UK.
Jason CareyProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Phoenix KwanDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
George GrantProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Joshua D SmithDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Benjamin M NealeProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Shaun PurcellProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Adam S ButterworthDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joanna M M HowsonDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Heung Man LeeDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Yingchang LuThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, USA.
Soo-Heon KwakDepartment of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Wei ZhaoDepartment of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
John DaneshDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Vincent K L LamDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Kyong Soo ParkDepartment of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea.
Danish SaleheenDepartment of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Wing Yee SoDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Claudia H T TamDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Uzma AfzalDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
David AguilarCardiovascular Division, Baylor College of Medicine, Houston, Texas, USA.
Rector AryaDepartment of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA.
Tin AungSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Edmund ChanDepartment of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System, Singapore.
Carmen NavarroDepartment of Epidemiology, Murcia Regional Health Council, IMIB-Arrixaca, Murcia, Spain.
Ching-Yu ChengSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Domenico PalliCancer Research and Prevention Institute (ISPO), Florence, Italy.
Adolfo CorreaDepartment of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Joanne E CurranSouth Texas Diabetes and Obesity Institute, Regional Academic Health Center, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
Denis RybinDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Vidya S FarookDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, USA.
Sharon P FowlerDepartment of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA.
Barry I FreedmanDepartment of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Michael GriswoldCenter of Biostatistics and Bioinformatics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Daniel Esten HaleDepartment of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA.
Pamela J HicksCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Chiea-Chuen KhorSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Satish KumarSouth Texas Diabetes and Obesity Institute, Regional Academic Health Center, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
Benjamin LehneDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
Dorothée ThuillierCNRS-UMR8199, Lille University, Lille Pasteur Institute, Lille, France.
Wei Yen LimSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Jianjun LiuSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Yvonne T van der SchouwJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Netherlands.
Marie LohDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
Solomon K MusaniJackson Heart Study, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Sobha PuppalaDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, USA.
William R ScottDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
Loïc YengoCNRS-UMR8199, Lille University, Lille Pasteur Institute, Lille, France.
Sian-Tsung TanDepartment of Cardiology, Ealing Hospital NHS Trust, Southall, Middlesex, UK.
Herman A TaylorDepartment of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Farook ThameemDepartment of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA.
Gregory WilsonCollege of Public Services, Jackson State University, Jackson, Mississippi, USA.
Tien Yin WongSingapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Pål Rasmus NjølstadKG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Jonathan C LevyOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Lori L BonnycastleMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Thomas SchwarzmayrInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
João FadistaDepartment of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Gabriela L SurdulescuDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Christian HerderInstitute of Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany.
Christopher J GrovesOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Thomas WielandInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Jette Bork-JensenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Ivan BrandslundInstitute of Regional Health Research, University of Southern Denmark, Odense, Denmark.
Cramer ChristensenDepartment of Internal Medicine and Endocrinology, Vejle Hospital, Vejle, Denmark.
Heikki A KoistinenDepartment of Health, National Institute for Health and Welfare, Helsinki, Finland.
Alex S F DoneyDivision of Cardiovascular and Diabetes Medicine, Medical Research Institute, Ninewells Hospital and Medical School, Dundee, UK.
Leena KinnunenDepartment of Health, National Institute for Health and Welfare, Helsinki, Finland.
Tõnu EskoProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Andrew J FarmerNuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
Liisa HakasteAbdominal Center: Endocrinology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Dylan HodgkissDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Jasmina KravicDepartment of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Valeriya LyssenkoDepartment of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Mette HollenstedThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Marit E JørgensenSteno Diabetes Center, Gentofte, Denmark.
Torben JørgensenResearch Centre for Prevention and Health, Capital Region of Denmark, Glostrup, Denmark.
Claes LadenvallDepartment of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Johanne Marie JustesenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Annemari KäräjämäkiDepartment of Primary Health Care, Vaasa Central Hospital, Vaasa, Finland.
Jennifer KriebelGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Wolfgang RathmannInstitute for Biometrics and Epidemiology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany.
Lars LannfeltDepartment of Public Health and Caring Sciences, Geriatrics, Uppsala University, Uppsala, Sweden.
Torsten LauritzenDepartment of Public Health, Section of General Practice, Aarhus University, Aarhus, Denmark.
Narisu NarisuMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Allan LinnebergResearch Centre for Prevention and Health, Capital Region of Denmark, Glostrup, Denmark.
Olle MelanderDepartment of Clinical Sciences, Hypertension and Cardiovascular Disease, Lund University, Malmö, Sweden.
Lili MilaniEstonian Genome Center, University of Tartu, Tartu, Estonia.
Matt NevilleOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Marju Orho-MelanderDepartment of Clinical Sciences, Diabetes and Cardiovascular Disease, Genetic Epidemiology, Lund University, Malmö, Sweden.
Lu QiDepartment of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA.
Qibin QiDepartment of Nutrition, Harvard School of Public Health, Boston, Massachusetts, USA.
Michael RodenInstitute of Clinical Diabetology, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany.
Olov RolandssonDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Amy SwiftMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Anders H RosengrenDepartment of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Kathleen StirrupsDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Andrew R WoodGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
Evelin MihailovEstonian Genome Center, University of Tartu, Tartu, Estonia.
Christine BlancherHigh Throughput Genomics, Oxford Genomics Centre, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Mauricio O CarneiroProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Jared MaguireProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Ryan PoplinProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Khalid ShakirProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Timothy FennellProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Mark DePristoProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Martin Hrabé de AngelisGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Panos DeloukasWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Anette P GjesingThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Goo JunDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Peter NilssonDepartment of Clinical Sciences, Medicine, Lund University, Malmö, Sweden.
Jacquelyn MurphyProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Robert OnofrioProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Barbara ThorandGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Torben HansenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Christa MeisingerGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Frank B HuDepartment of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Bo IsomaaFolkhälsan Research Centre, Helsinki, Finland.
Fredrik KarpeOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Liming LiangDepartment of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA.
Annette PetersDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany.
Cornelia HuthGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Stephen P O'RahillyMetabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Colin N A PalmerPat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.
Oluf PedersenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Rainer RauramaaFoundation for Research in Health, Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine, Kuopio, Finland.
Jaakko TuomilehtoDepartment of Health, National Institute for Health and Welfare, Helsinki, Finland.
Veikko SalomaaNational Institute for Health and Welfare, Helsinki, Finland.
Richard M WatanabeDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Ann-Christine SyvänenDepartment of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Richard N BergmanCedars-Sinai Diabetes and Obesity Research Institute, Los Angeles, California, USA.
Dwaipayan BharadwajFunctional Genomics Unit, CSIR-Institute of Genomics & Integrative Biology (CSIR-IGIB), New Delhi, India.
Erwin P BottingerThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, USA.
Yoon Shin ChoDepartment of Biomedical Science, Hallym University, Chuncheon, Republic of Korea.
Giriraj R ChandakCSIR-Centre for Cellular and Molecular Biology, Hyderabad, Telangana, India.
Juliana C N ChanDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Kee Seng ChiaSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
Shah B EbrahimCentre for Chronic Disease Control, New Delhi, India.
Claudia LangenbergMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Paul ElliottDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
Kathleen A JablonskiThe Biostatistics Center, The George Washington University, Rockville, Maryland, USA.
Donna M LehmanDepartment of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA.
Weiping JiaDepartment of Endocrinology and Metabolism, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Ronald C W MaDepartment of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.
Toni I PollinDepartment of Medicine, Division of Endocrinology, Diabetes and Nutrition, and Program in Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Manjinder SandhuDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Nikhil TandonDepartment of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
Philippe FroguelCNRS-UMR8199, Lille University, Lille Pasteur Institute, Lille, France.
Inês BarrosoDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Yik Ying TeoSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Eleftheria ZegginiDepartment of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, UK.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, USA.
Kerrin S SmallDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Janina S RiedInstitute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Ralph A DeFronzoDepartment of Medicine, University of Texas Health Science Center, San Antonio, Texas, USA.
Harald GrallertGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Benjamin GlaserEndocrinology and Metabolism Service, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, Estonia.
Nicholas J WarehamMRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Mark WalkerThe Medical School, Institute of Cellular Medicine, Newcastle University, Newcastle, UK.
Eric BanksProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Christian GiegerInstitute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Erik IngelssonWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Hae Kyung ImDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, Illinois, USA.
Thomas IlligResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Paul W FranksDepartment of Clinical Sciences, Lund University Diabetes Centre, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, Sweden.
Gemma BuckHigh Throughput Genomics, Oxford Genomics Centre, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Joseph TrakaloHigh Throughput Genomics, Oxford Genomics Centre, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
David BuckHigh Throughput Genomics, Oxford Genomics Centre, Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Inga ProkopenkoWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Reedik MägiEstonian Genome Center, University of Tartu, Tartu, Estonia.
Lars LindDepartment of Medical Sciences, Uppsala University, Uppsala, Sweden.
Yossi FarjounData Sciences and Data Engineering, Broad Institute, Cambridge, Massachusetts, USA.
Katharine R OwenOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Anna L GloynWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Tiinamaija TuomiAbdominal Center: Endocrinology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Jaspal Singh KoonerDepartment of Cardiology, Ealing Hospital NHS Trust, Southall, Middlesex, UK.
Jong-Young LeeCenter for Genome Science, Korea National Institute of Health, Chungcheongbuk-do, Republic of Korea.
Taesung ParkDepartment of Statistics, Seoul National University, Seoul, Republic of Korea.
Peter DonnellyWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Andrew D MorrisClinical Research Centre, Centre for Molecular Medicine, Ninewells Hospital and Medical School, Dundee, UK.
Andrew T HattersleyUniversity of Exeter Medical School, University of Exeter, Exeter, UK.
Donald W BowdenCenter for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
Francis S CollinsMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Gil AtzmonDepartments of Medicine and Genetics, Albert Einstein College of Medicine, New York, USA.
John C ChambersDepartment of Epidemiology and Biostatistics, Imperial College London, London, UK.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Markku LaaksoFaculty of Health Sciences, Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Tim M StromInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Graeme I BellDepartments of Medicine and Human Genetics, The University of Chicago, Chicago, Illinois, USA.
John BlangeroSouth Texas Diabetes and Obesity Institute, Regional Academic Health Center, University of Texas Rio Grande Valley, Brownsville, Texas, USA.
Ravindranath DuggiralaDepartment of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, USA.
E Shyong TaiSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore.
Gilean McVeanWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Craig L HanisHuman Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Mark SeielstadDepartment of Laboratory Medicine & Institute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
Timothy M FraylingGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter, UK.
James B MeigsGeneral Medicine Division, Massachusetts General Hospital and Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
Nancy J CoxDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, Illinois, USA.
Rob SladekMcGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada.
Eric S LanderBroad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Stacey GabrielProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Noël P BurttProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Leif GroopDepartment of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.
Goncalo AbecasisDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Jose C FlorezProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Laura J ScottDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Andrew P MorrisWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Hyun Min KangDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan, USA.
David AltshulerProgram in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.
Mark I McCarthyWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0M
Genetic analysis of type II diabetes in Finnish populationZIAHG000024 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ERDOS, MICHAEL · 2009 to 2025
$38.2M
TRANSGENIC COREP60DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI BELL, GRAEME I · 1985 to 2012
$25.5M
Research Desogn and Biostatistics CoreU54MD007588 · NIMHD · MOREHOUSE SCHOOL OF MEDICINE · PI MAYBERRY, ROBERT M · 2012 to 2018
$24.8M
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3M
Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 2013 to 2026
$20.9M
Low-Pass Sequencing and High-Density SNP Genotyping for Type 2 DiabetesRC2DK088389 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ALTSHULER, DAVID, BOEHNKE, MICHAEL L · 2009 to 2010
$17.9M
University of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4M
Multiethnic Study of Type 2 Diabetes GenesU01DK085526 · NIDDK · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, JABLONSKI, KATHLEEN ANN · 2009 to 2014
$15.7M
Identifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6M
Targeted Genetic Analysis of T2D and Quantitative TraitsR01DK072193 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2005 to 2026
$11.3M
British Heart Foundation RG/14/5/30893British Heart Foundation SP/04/002British Heart Foundation SP/09/002CIHRMedical Research Council G0601261Medical Research Council G0601966Medical Research Council G0700931Medical Research Council G0800270Medical Research Council G0801566Medical Research Council G0900747-­‐91070Medical Research Council G0901213Medical Research Council MC_UU_12012/5Medical Research Council MC_UU_12015/1Medical Research Council MR/K002414/1Medical Research Council MR/K013491/1Medical Research Council MR/L01341X/1NCI NIH HHS K12CA139160NHGRI NIH HHS R01 HG000376NHGRI NIH HHS R56 HG000376NHGRI NIH HHS T32 HG000040NHGRI NIH HHS U01 HG005773NHGRI NIH HHS U01HG005773NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54HG003067NHLBI NIH HHS HHSN268201300046CNHLBI NIH HHS HHSN268201300047CNHLBI NIH HHS HHSN268201300048CNHLBI NIH HHS HHSN268201300049CNHLBI NIH HHS HHSN268201300050CNHLBI NIH HHS R01 HL102830NHLBI NIH HHS R01HL102830NHLBI NIH HHS T32 HL007055NIA NIH HHS 1R01AG042188NIA NIH HHS P01 AG027734NIA NIH HHS P01AG027734NIA NIH HHS P30 AG038072NIA NIH HHS P30AG038072NIA NIH HHS R01 AG042188NIA NIH HHS R01 AG046949NIA NIH HHS R01AG046949NIDDK NIH HHS 1RC2DK088389NIDDK NIH HHS DK072193NIDDK NIH HHS DK085501NIDDK NIH HHS DK085524NIDDK NIH HHS DK085526NIDDK NIH HHS DK085545NIDDK NIH HHS DK085584NIDDK NIH HHS DK088389NIDDK NIH HHS DK093757NIDDK NIH HHS DK098032NIDDK NIH HHS K24 DK080140NIDDK NIH HHS K24DK080140NIDDK NIH HHS K24 DK110550NIDDK NIH HHS P30 DK020572NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P30DK020595NIDDK NIH HHS P60 DK020595NIDDK NIH HHS P60DK20595NIDDK NIH HHS R00 DK092251NIDDK NIH HHS R00DK092251NIDDK NIH HHS R00 DK099240NIDDK NIH HHS R01DK062370NIDDK NIH HHS R01 DK066358NIDDK NIH HHS R01DK066358NIDDK NIH HHS R01 DK072193NIDDK NIH HHS R01 DK073541NIDDK NIH HHS R01DK073541NIDDK NIH HHS R01 DK093757NIDDK NIH HHS R01 DK098032NIDDK NIH HHS R01DK098032NIDDK NIH HHS R01 DK101478NIDDK NIH HHS R01 DK106236NIDDK NIH HHS RC2 DK088389NIDDK NIH HHS RC2-­‐DK088389NIDDK NIH HHS RC2DK088389NIDDK NIH HHS U01 DK062370NIDDK NIH HHS U01 DK078616NIDDK NIH HHS U01 DK085501NIDDK NIH HHS U01DK085501NIDDK NIH HHS U01 DK085524NIDDK NIH HHS U01 DK085526NIDDK NIH HHS U01DK085526NIDDK NIH HHS U01 DK085545NIDDK NIH HHS U01 DK085584NIGMS NIH HHS T32 GM007753NIGMS NIH HHS T32GM007753NIH HHS S10 OD018522NIMHD NIH HHS U54 MD007588NIMH NIH HHS R01 MH090937NIMH NIH HHS R01MH090937NIMH NIH HHS R01 MH101820NIMH NIH HHS R01MH101820Wellcome Trust 064890Wellcome Trust 083948Wellcome Trust 084723Wellcome Trust 085475Wellcome Trust 086596Wellcome Trust 090367Wellcome Trust 090532Wellcome Trust 092447Wellcome Trust 095101Wellcome Trust 095552Wellcome Trust 098017Wellcome Trust 098051Wellcome Trust 098381Wellcome Trust 100956Wellcome Trust 200837/Z/16/Z
6 · The paper itself

Abstract

The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.

Indexed as

AllelesDiabetes Mellitus, Type 2DNA Mutational AnalysisEuropeExomeGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotyping TechniquesHumansSample Size

Identifiers

PMID27398621
PMCPMC5034897

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