Evidence map›Paper›PMID 28146470›Full record

ArticleNature2017

Rare and low-frequency coding variants alter human adult height.

Eirini Marouli, Mariaelisa Graff, Carolina Medina-Gomez, Ken Sin Lo, Andrew R Wood, Troels R Kjaer, Rebecca S Fine, Yingchang Lu, Claudia Schurmann, Heather M Highland and 370 more

Open access · bronzeAbstract read
In one paragraph

Article in Nature, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 338 papers, 11 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
338citing papers in PubMed, 11 pooled it
87.4field-weighted citation impact, top 1% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

338 citing papers in PubMed, 11 syntheses or guidelines pooled it, 650 citations in OpenAlex.

  1. Pooled it
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  7. Can biomarkers be used to improve diagnosis and prediction of metabolic syndrome in childhood cancer survivors? A systematic review.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2021
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  13. Insulin-like growth factor receptor signaling in physiology and disease.Signal transduction and targeted therapy · 2026
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278 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

380 authors at 20 institutions in 29 countries.

Eirini MarouliWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Mariaelisa GraffDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Carolina Medina-GomezDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Ken Sin LoMontreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.
Andrew R WoodGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK.
Troels R KjaerDepartment of Molecular Biology and Genetics, Aarhus University, Aarhus, 8000, Denmark.
Rebecca S FineBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Yingchang LuDivision of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, Tennessee 37203, USA.
Claudia SchurmannThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Heather M HighlandDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Sina RüegerInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.
Gudmar ThorleifssondeCODE Genetics/Amgen inc., Reykjavik, 101, Iceland.
Anne E JusticeDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
David LamparterSwiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.
Kathleen E StirrupsWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Valérie TurcotMontreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.
Kristin L YoungDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Thomas W WinklerDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, D-93051, Germany.
Tõnu EskoBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Tugce KaraderiWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Adam E LockeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Nicholas G D MascaDepartment of Cardiovascular Sciences, Univeristy of Leicester, Glenfield Hospital, Leicester LE3 9QP, UK.
Maggie C Y NgCenter for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
Poorva MudgalCenter for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
Manuel A RivasBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Sailaja VedantamBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Anubha MahajanWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Xiuqing GuoInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Goncalo AbecasisDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Katja K AbenNetherlands Comprehensive Cancer Organisation, Utrecht, 3501 DB, The Netherlands.
Linda S AdairDepartment of Nutrition, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
Dewan S AlamCentre for Control of Chronic Diseases (CCCD), Dhaka, 1212, Bangladesh.
Eva AlbrechtInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, D-85764, Germany.
Kristine H AllinThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Matthew AllisonDepartment of Family Medicine &Public Health, University of California, San Diego, La Jolla, California 92093, USA.
Philippe AmouyelINSERM U1167, Lille, F-59019, France.
Emil V AppelThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Dominique ArveilerDepartment of Epidemiology and Public Health, University of Strasbourg, Strasbourg, F-67085, France.
Folkert W AsselbergsDepartment of Cardiology, Division Heart &Lungs, University Medical Center Utrecht, Utrecht, The Netherlands.
Paul L AuerZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin 53201, USA.
Beverley BalkauINSERM U1018, Centre de recherche en Épidemiologie et Sante des Populations (CESP), Villejuif, France.
Bernhard BanasDepartment of Nephrology, University Hospital Regensburg, Regensburg, 93042, Germany.
Lia E BangDepartment of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, 2100, Denmark.
Marianne BennDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2730, Denmark.
Sven BergmannSwiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.
Lawrence F BielakDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109, USA.
Matthias BlüherIFB Adiposity Diseases, University of Leipzig, Leipzig, 04103, Germany.
Heiner BoeingDepartment of Epidemiology, German Institute of Human Nutrition Potsdam-Rehbruecke (DIfE), Nuthetal, 14558, Germany.
Eric BoerwinkleSchool of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Carsten A BögerDepartment of Nephrology, University Hospital Regensburg, Regensburg, 93042, Germany.
Lori L BonnycastleMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Jette Bork-JensenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Michiel L BotsJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands.
Erwin P BottingerThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Donald W BowdenCenter for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
Ivan BrandslundDepartment of Clinical Biochemistry, Lillebaelt Hospital, Vejle, 7100, Denmark.
Gerome BreenMRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London &NIHR Biomedical Research Centre for Mental Health at the Maudsley, London, SE5 8AF, UK.
Murray H BrilliantMarshfield Clinic Research Foundation, Marshfield, Wisconsin 54449, USA.
Linda BroerDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Amber A BurtDepartment of Medicine, University of Washington, Seattle, Washington 98195, USA.
Adam S ButterworthMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
David J CareyThe Sigfried and Janet Weis Center for Research, Danville, Pennsylvania 17822, USA.
Mark J CaulfieldWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
John C ChambersDepartment of Cardiology, London North West Healthcare NHS Trust, Ealing Hospital, Middlesex UB1 3HW, UK.
Daniel I ChasmanBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Yii-Der Ida ChenInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Rajiv ChowdhuryMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Cramer ChristensenMedical Department, Lillebaelt Hospital, Vejle, 7100, Denmark.
Audrey Y ChuDivision of Preventive Medicine, Brigham and Women's and Harvard Medical School, Boston, Massachusetts 02215, USA.
Massimiliano CoccaDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste, 34100, Italy.
Francis S CollinsMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
James P CookDepartment of Biostatistics, University of Liverpool, Liverpool L69 3GL, UK.
Janie CorleyCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Jordi Corominas GalbanyDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Amanda J CoxCenter for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
Gabriel Cuellar-PartidaDiamantina Institute, University of Qeensland, Brisbane, Queensland, 4072, Australia.
John DaneshMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Gail DaviesCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Paul I W de BakkerJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands.
Gert J de BorstDepartment of Vascular Surgery, Division of Surgical Specialties, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
Simon de DenusMontreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.
Mark C H de GrootDepartment of Clinical Chemistry and Haematology, Division of Laboratory and Pharmacy, University Medical Center Utrecht, Utrecht, 3508 GA, The Netherlands.
Renée de MutsertDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands.
Ian J DearyCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
George DedoussisDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, 17671, Greece.
Ellen W DemerathDivision of Epidemiology &Community Health, School of Public Health, University of Minnesota, Minneapolis, Minnesota 55454, USA.
Anneke I den HollanderDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Joe G DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Emanuele Di AngelantonioMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Fotios DrenosInstitute of Cardiovascular Science, University College London, London WC1E 6JF, UK.
Mengmeng DuFred Hutchinson Cancer Research Center, Public Health Sciences Division, Seattle, Washington 98109, USA.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Tapani EbelingDepartment of Medicine, Oulu University Hospital, Oulu, 90029, Finland.
Todd L EdwardsDivision of Epidemiology, Department of Medicine, Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee 37203, USA.
Patrick T EllinorMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Paul ElliottDepartment of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London W2 1PG, UK.
Evangelos EvangelouDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK.
Aliki-Eleni FarmakiDepartment of Nutrition and Dietetics, School of Health Science and Education, Harokopio University, Athens, 17671, Greece.
Jessica D FaulSurvey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, Michigan 48104, USA.
Mary F FeitosaDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, StLouis, Missouri 63108, USA.
Shuang FengDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Ele FerranniniCNR Institute of Clinical Physiology, Pisa, Italy.
Marco M FerrarioResearch Center on Epidemiology and Preventive Medicine, Department of Clinical and Experimental Medicine, University of Insubria, Varese, 21100, Italy.
Jean FerrieresToulouse University School of Medicine, Toulouse, TSA 50032 31059, France.
Jose C FlorezMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Ian FordUniversity of Glasgow, Glasgow G12 8QQ, UK.
Myriam FornageInstitute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Paul W FranksDepartment of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, SE-20502, Sweden.
Ruth Frikke-SchmidtFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Tessel E GaleslootRadboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Wei GanWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Ilaria GandinDepartment of Medical Sciences, University of Trieste, Trieste, 34137, Italy.
Paolo GaspariniDepartment of Medical Sciences, University of Trieste, Trieste, 34137, Italy.
Vilmantas GiedraitisGeriatrics, Department of Public Health, Uppsala University, Uppsala, 751 85, Sweden.
Ayush GiriDivision of Epidemiology, Department of Medicine, Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee 37203, USA.
Giorgia GirottoDepartment of Medical Sciences, University of Trieste, Trieste, 34137, Italy.
Scott D GordonQIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
Penny Gordon-LarsenCarolina Population Center, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Mathias GorskiDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, D-93051, Germany.
Niels GrarupThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Megan L GroveSchool of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Vilmundur GudnasonFaculty of Medicine, University of Iceland, Reykjavik, 101, Iceland.
Stefan GustafssonDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, 751 41, Sweden.
Torben HansenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Kathleen Mullan HarrisCarolina Population Center, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Tamara B HarrisLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, Maryland 20892, USA.
Andrew T HattersleyUniversity of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK.
Caroline HaywardMRCHGU, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Liang HeBiodemography of Aging Research Unit, Social Science Research Institute, Duke University, Durham, North Carolina 27708, USA.
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, D-93051, Germany.
Kauko HeikkiläDepartment of Public Health, University of Helsinki, Helsinki, FI-00014, Finland.
Øyvind HelgelandDepartment of Pediatrics, Haukeland University Hospital, Bergen, 5021, Norway.
Jussi HernesniemiDepartment of Cardiology, Heart Center, Tampere University Hospital, Tampere, 33521, Finland.
Alex W HewittCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Victoria, 3002, Australia.
Lynne J HockingGeneration Scotland, Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Mette HollenstedThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Oddgeir L HolmenK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health, NTNU, Norwegian University of Science and Technology, Trondheim, 7600, Norway.
G Kees HovinghAMC, Department of Vascular Medicine, Amsterdam, 1105 AZ, The Netherlands.
Joanna M M HowsonMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Carel B HoyngDepartment of Ophthalmology, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Paul L HuangMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Kristian HveemHUNT Research Centre, Department of Public Health and General Practice, Norwegian University of Science and Technology, Levanger, 7600, Norway.
M Arfan IkramDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Erik IngelssonDepartment of Medical Sciences, Molecular Epidemiology and Science for Life Laboratory, Uppsala University, Uppsala, 751 41, Sweden.
Anne U JacksonDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Jan-Håkan JanssonDepartment of Public Health &Clinical Medicine, Umeå University, Umeå, SE-90185, Sweden.
Gail P JarvikDepartment of Medicine, University of Washington, Seattle, Washington 98195, USA.
Gorm B JensenThe Copenhagen City Heart Study, Frederiksberg Hospital, Frederiksberg, 2000, Denmark.
Min A JhunDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109, USA.
Yucheng JiaInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Xuejuan JiangDepartment of Preventive Medicine, Keck School of Medicine of the University of California, Los Angeles, California 90089, USA.
Stefan JohanssonKG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, 5020, Norway.
Marit E JørgensenNational Institute of Public Health, University of Southern Denmark, Copenhagen, 1353, Denmark.
Torben JørgensenFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Pekka JousilahtiNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
J Wouter JukemaDepartment of Cardiology, Leiden University Medical Center, Leiden, 2333, The Netherlands.
Bratati KahaliDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.
René S KahnDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, 3584 CG, The Netherlands.
Mika KähönenDepartment of Clinical Physiology, University of Tampere School of Medicine, Tampere, 33014, Finland.
Pia R KamstrupDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2730, Denmark.
Stavroula KanoniWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Jaakko KaprioDepartment of Public Health, University of Helsinki, Helsinki, FI-00014, Finland.
Maria KaraleftheriEchinos Medical Centre, Echinos, Greece.
Sharon L R KardiaDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109, USA.
Fredrik KarpeOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LE, UK.
Frank KeeUKCRC Centre of Excellence for Public Health Research, Queens University Belfast, Belfast BT12 6BJ, UK.
Renske KeemanNetherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, 1066 CX, The Netherlands.
Lambertus A KiemeneyRadboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Hidetoshi KitajimaWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Kirsten B KluiversRadboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Thomas KocherDepartment of Restorative Dentistry, Periodontology and Endodontology, University Medicine Greifswald, Greifswald, 17475, Germany.
Pirjo KomulainenFoundation for Research in Health Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine, Kuopio, 70100, Finland.
Jukka KonttoNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
Jaspal S KoonerDepartment of Cardiology, London North West Healthcare NHS Trust, Ealing Hospital, Middlesex UB1 3HW, UK.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Peter KovacsIFB Adiposity Diseases, University of Leipzig, Leipzig, 04103, Germany.
Jennifer KriebelGerman Center for Diabetes Research, München-Neuherberg, 85764, Germany.
Helena KuivaniemiThe Sigfried and Janet Weis Center for Research, Danville, Pennsylvania 17822, USA.
Sébastien KüryCHU Nantes, Service de Génétique Médicale, Nantes, 44093, France.
Johanna KuusistoInstitute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, 70210, Finland.
Martina La BiancaInstitute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, 34137, Italy.
Markku LaaksoInstitute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, 70210, Finland.
Timo A LakkaFoundation for Research in Health Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine, Kuopio, 70100, Finland.
Ethan M LangeDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Leslie A LangeDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Carl D LangefeldDepartment of Biostatistical Sciences and Center for Public Health Genomics, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
Eric B LarsonDepartment of Medicine, University of Washington, Seattle, Washington 98195, USA.
I-Te LeeDivision of Endocrinology and Metabolism, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung 407, Taiwan.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, 33520, Finland.
Cora E LewisDivision of Preventive Medicine University of Alabama at Birmingham, Birmingham, Alabama 35205, USA.
Huaixing LiKey Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, People's Republic of China, Shanghai, 200031, China.
Jin LiDepartment of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Palo Alto, California 94304, USA.
Ruifang Li-GaoDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands.
Honghuang LinDepartment of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
Li-An LinInstitute of Molecular Medicine, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.
Xu LinKey Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, People's Republic of China, Shanghai, 200031, China.
Lars LindUppsala University, Uppsala, 75185, Sweden.
Jaana LindströmNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
Allan LinnebergFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Yeheng LiuInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Yongmei LiuDivision of Public Health Sciences, Wake Forest School of Medicine, Winston-Salem, North Carolina 27157, USA.
Artitaya LophatananonDivision of Health Sciences, Warwick Medical School, Warwick University, Coventry CV4 7AL, UK.
Jian'an LuanMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
Steven A LubitzMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, 33520, Finland.
David A MackeyCentre for Ophthalmology and Vision Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, 6009, Australia.
Pamela A F MaddenDepartment of Psychiatry, Washington University, Saint Louis, Missouri 63110, USA.
Alisa K ManningMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Satu MännistöNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
Gaëlle MarenneWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Jonathan MartenMRCHGU, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
Angela L MazulDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Karina MeidtnerGerman Center for Diabetes Research, München-Neuherberg, 85764, Germany.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, 51010, Estonia.
Paul MitchellWestmead Millennium Institute of Medical Research, Centre for Vision Research and Department of Ophthalmology, University of Sydney, Sydney, New South Wales, 2022, Australia.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Dennis O Mook-KanamoriDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, 2300 RC, The Netherlands.
Anna MorganDepartment of Medical Sciences, University of Trieste, Trieste, 34137, Italy.
Andrew D MorrisCentre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH8 9AG, UK.
Andrew P MorrisWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, D-85764, Germany.
Patricia B MunroeWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland 20892, USA.
Matthias NauckDZHK (German Centre for Cardiovascular Research), partner site Greifswald, Greifswald, 17475, Germany.
Christopher P NelsonDepartment of Cardiovascular Sciences, Univeristy of Leicester, Glenfield Hospital, Leicester LE3 9QP, UK.
Matt NevilleOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LE, UK.
Sune F NielsenDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2730, Denmark.
Kjell NikusDepartment of Cardiology, Heart Center, Tampere University Hospital and School of Medicine, University of Tampere, Tampere, 33521, Finland.
Pål R NjølstadDepartment of Pediatrics, Haukeland University Hospital, Bergen, 5021, Norway.
Børge G NordestgaardDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2730, Denmark.
Ioanna NtallaWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Jeffrey R O'ConnelProgram in Personalized Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
Heikki OksaDepartment of Medicine, Tampere University Hospital, Tampere, 33521, Finland.
Loes M Olde LoohuisCenter for Neurobehavioral Genetics, UCLA, Los Angeles, California 90095, USA.
Roel A OphoffDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, 3584 CG, The Netherlands.
Katharine R OwenOxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford OX3 7LE, UK.
Chris J PackardUniversity of Glasgow, Glasgow G12 8QQ, UK.
Sandosh PadmanabhanUniversity of Glasgow, Glasgow G12 8QQ, UK.
Colin N A PalmerPat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Medical Research Institute, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
Gerard PasterkampLaboratory of Clinical Chemistry and Hematology, Division Laboratories and Pharmacy, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
Aniruddh P PatelBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Alison PattieDepartment of Psychology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Oluf PedersenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Peggy L PeissigMarshfield Clinic Research Foundation, Marshfield, Wisconsin 54449, USA.
Gina M PelosoMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Craig E PennellSchool of Women's and Infants' Health, The University of Western Australia, Perth, Western Australia, 6009, Australia.
Markus PerolaNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
James A PerryProgram in Personalized Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
John R B PerryMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
Thomas N PersonMarshfield Clinic Research Foundation, Marshfield, Wisconsin 54449, USA.
Ailith PirieCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Ozren PolasekCentre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH8 9AG, UK.
Danielle PosthumaCenter for Neurogenomics and Cognitive Research, Department Complex Trait Genetics, VU University, Amsterdam, 1081 HV, The Netherlands.
Olli T RaitakariDepartment of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, 20521, Finland.
Asif RasheedCentre for Non-Communicable Diseases, Karachi, Pakistan.
Rainer RauramaaFoundation for Research in Health Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine, Kuopio, 70100, Finland.
Dermot F ReillyMRL, Merck &Co., Inc., Genetics and Pharmacogenomics, Boston, Massachusetts 02115, USA.
Alex P ReinerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Frida RenströmDepartment of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, SE-20502, Sweden.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's and Harvard Medical School, Boston, Massachusetts 02215, USA.
John D RiouxMontreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.
Neil RobertsonWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Antonietta RobinoInstitute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, 34137, Italy.
Olov RolandssonDepartment of Public Health &Clinical Medicine, Umeå University, Umeå, SE-90185, Sweden.
Igor RudanCentre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh EH8 9AG, UK.
Katherine S RuthGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK.
Danish SaleheenCentre for Non-Communicable Diseases, Karachi, Pakistan.
Veikko SalomaaNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
Nilesh J SamaniDepartment of Cardiovascular Sciences, Univeristy of Leicester, Glenfield Hospital, Leicester LE3 9QP, UK.
Kevin SandowInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Yadav SapkotaQIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, Australia.
Naveed SattarUniversity of Glasgow, Glasgow G12 8QQ, UK.
Marjanka K SchmidtNetherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, 1066 CX, The Netherlands.
Pamela J SchreinerDivision of Epidemiology &Community Health University of Minnesota, Minneapolis, Minnesota 55454, USA.
Matthias B SchulzeGerman Center for Diabetes Research, München-Neuherberg, 85764, Germany.
Robert A ScottMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
Marcelo P Segura-LepeDepartment of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London W2 1PG, UK.
Svati ShahDuke University, Durham, North Carolina 27703, USA.
Xueling SimDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Suthesh SivapalaratnamMassachusetts General Hospital, Boston, Massachusetts 02114, USA.
Kerrin S SmallDepartment of Twin Research and Genetic Epidemiology, Kingís College London, London SE1 7EH, UK.
Albert Vernon SmithFaculty of Medicine, University of Iceland, Reykjavik, 101, Iceland.
Jennifer A SmithDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109, USA.
Lorraine SouthamWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, Kingís College London, London SE1 7EH, UK.
Elizabeth K SpeliotesDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.
John M StarrCentre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh EH8 9JZ, UK.
Valgerdur SteinthorsdottirdeCODE Genetics/Amgen inc., Reykjavik, 101, Iceland.
Heather M StringhamDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Michael StumvollIFB Adiposity Diseases, University of Leipzig, Leipzig, 04103, Germany.
Praveen SurendranMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Leen M 't HartDepartment of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, 1007MB, The Netherlands.
Katherine E TanseyCollege of Biomedical and Life Sciences, Cardiff University, Cardiff, CF14 4EP, UK.
Jean-Claude TardifMontreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.
Kent D TaylorInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Alexander TeumerInstitute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
Deborah J ThompsonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen inc., Reykjavik, 101, Iceland.
Betina H ThuesenResearch Center for Prevention and Health, Capital Region of Denmark, Glostrup, DK-2600, Denmark.
Anke TönjesCenter for Pediatric Research, Department for Women's and Child Health, University of Leipzig, Leipzig, 04103, Germany.
Gerard TrompThe Sigfried and Janet Weis Center for Research, Danville, Pennsylvania 17822, USA.
Stella TrompetDepartment of Cardiology, Leiden University Medical Center, Leiden, 2333, The Netherlands.
Emmanouil TsafantakisAnogia Medical Centre, Anogia, Greece.
Jaakko TuomilehtoNational Institute for Health and Welfare, Helsinki, FI-00271, Finland.
Anne Tybjaerg-HansenFaculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Jonathan P TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK.
Rudolf UherDepartment of Psychiatry, Dalhousie University, Halifax B3H 4R2, Canada.
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Sheila UliviInstitute for Maternal and Child Health - IRCCS 'Burlo Garofolo', Trieste, 34137, Italy.
Sander W van der LaanLaboratory of Experimental Cardiology, Division Heart &Lungs, University Medical Center Utrecht, Utrecht, 3584 CX, The Netherlands.
Andries R Van Der LeijUniversity of Amsterdam, Department of Brain &Cognition, Amsterdam, 1018 WS, The Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Natasja M van SchoorDepartment of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, 1007MB, The Netherlands.
Jessica van SettenDepartment of Cardiology, Division Heart &Lungs, University Medical Center Utrecht, Utrecht, The Netherlands.
Anette VarboDepartment of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2730, Denmark.
Tibor V VargaDepartment of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmö, SE-20502, Sweden.
Rohit VarmaUSC Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, California 90089, USA.
Digna R Velez EdwardsDepartment of Obstetrics and Gynecology, Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University, Nashville, Tennessee 37203, USA.
Sita H VermeulenRadboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Henrik VestergaardThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Veronique VitartMRCHGU, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
Thomas F VogtMRL, Merck &Co., Inc., Cardiometabolic Disease, Kenilworth, New Jersey 07033, USA.
Diego VozziDivision of Experimental Genetics, Sidra Medical and Research Center, Doha, 26999, Qatar.
Mark WalkerInstitute of Cellular Medicine, The Medical School, Newcastle University, Newcastle NE2 4HH, UK.
Feijie WangKey Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, People's Republic of China, Shanghai, 200031, China.
Carol A WangSchool of Women's and Infants' Health, The University of Western Australia, Perth, Western Australia, 6009, Australia.
Shuai WangDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts 02118, USA.
Yiqin WangKey Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, People's Republic of China, Shanghai, 200031, China.
Nicholas J WarehamMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
Helen R WarrenWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Jennifer WesselDepartments of Epidemiology &Medicine, Diabetes Translational Research Center, Fairbanks School of Public Health &School of Medicine, Indiana University, Indiana 46202, USA.
Sara M WillemsMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.
Daniel R WitteDanish Diabetes Academy, Odense, 5000, Denmark.
Michael O WoodsMemorial University, Faculty of Medicine, Discipline of Genetics, St. John's, Newfoundland A1B 3V6, Canada.
Ying WuDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina 27514, USA.
Hanieh YaghootkarGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK.
Jie YaoInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Pang YaoKey Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, People's Republic of China, Shanghai, 200031, China.
Laura M Yerges-ArmstrongProgram in Personalized Medicine, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
Robin YoungMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.
Eleftheria ZegginiWellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Xiaowei ZhanDepartment of Clinical Sciences, Quantitative Biomedical Research Center, Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.
Weihua ZhangDepartment of Cardiology, London North West Healthcare NHS Trust, Ealing Hospital, Middlesex UB1 3HW, UK.
Jing Hua ZhaoMRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge CB2 0QQ, UK.
Wei ZhaoDepartment of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Wei ZhaoDepartment of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109, USA.
He ZhengKey Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, University of the Chinese Academy of Sciences, Shanghai, People's Republic of China, Shanghai, 200031, China.
Wei ZhouDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.
EPIC-InterAct Consortium
CHD Exome+ Consortium
ExomeBP Consortium
T2D-Genes Consortium
GoT2D Genes Consortium
Global Lipids Genetics Consortium
ReproGen Consortium
MAGIC Investigators
Jerome I RotterInstitute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center, Torrance, California 90502, USA.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Sekar KathiresanBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Mark I McCarthyWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Cristen J WillerDepartment of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Kari StefanssondeCODE Genetics/Amgen inc., Reykjavik, 101, Iceland.
Ingrid B BoreckiDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, StLouis, Missouri 63108, USA.
Dajiang J LiuDepartment of Public Health Sciences, Institute for Personalized Medicine, the Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA.
Kari E NorthDepartment of Epidemiology and Carolina Center of Genome Sciences, Chapel Hill, North Carolina 27514, USA.
Nancy L Heard-CostaNHLBI Framingham Heart Study, Framingham, Massachusetts 01702, USA.
Tune H PersThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2100, Denmark.
Cecilia M LindgrenWellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Claus OxvigDepartment of Molecular Biology and Genetics, Aarhus University, Aarhus, 8000, Denmark.
Zoltán KutalikInstitute of Social and Preventive Medicine, Lausanne University Hospital, Lausanne, 1010, Switzerland.
Fernando RivadeneiraDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, 3015 GE, The Netherlands.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.
Timothy M FraylingGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter EX2 5DW, UK.
Joel N HirschhornBroad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Panos DeloukasWilliam Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Guillaume LettreMontreal Heart Institute, Montreal, Quebec H1T 1C8, Canada.
University of Cambridge · GBUniversity of Copenhagen · DKBroad Institute · USUniversity of Michigan · USUniversity of North Carolina at Chapel Hill · USCentre for Human Genetics · GBUCLA Medical Center · USUniversity Medical Center Utrecht · NLQueen Mary University of London · GBRadboud University Nijmegen · NLChinese Academy of Sciences · CNErasmus MC · NLFinnish Institute for Health and Welfare · FILeiden University Medical Center · NLMontreal Heart Institute · CAdeCODE Genetics (Iceland) · ISSIB Swiss Institute of Bioinformatics · CHUniversity of Edinburgh · GBUniversity of Exeter · GBUniversity of Trieste · IT

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4M
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3M
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Cell Interactions in the Inflamed Intestinal MucosaR01DK075787 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI JOEL N HIRSCHHORN · 2007 to 2026
$13.1M
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
Cardiovascular Epidemiology Training GrantT32HL007055 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Wayne D. Rosamond · 1986 to 2026
$10.0M
Research Services CoreP2CHD050924 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN B GUZZO · 2015 to 2026
$9.6M
Genetic epidemiology of rare and regulatory variants for metabolic traitsR01DK093757 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2011 to 2026
$8.2M
Biotechnology and Biological Sciences Research Council BB/F019394/1British Heart Foundation RG/08/014/24067British Heart Foundation RG/14/5/30893British Heart Foundation SP/13/2/30111Doris Duke Charitable Foundation 2014105Medical Research Council G0600237Medical Research Council G0601966Medical Research Council G0700704Medical Research Council G0700931Medical Research Council G9815508Medical Research Council MC_PC_13040Medical Research Council MC_PC_15018Medical Research Council MC_PC_U127561128Medical Research Council MC_UU_12013/3Medical Research Council MC_UU_12015/1Medical Research Council MC_UU_12015/2Medical Research Council MR/K002414/1Medical Research Council MR/K006584/1Medical Research Council MR/K007017/1Medical Research Council MR/K026992/1Medical Research Council MR/L003120/1Medical Research Council MR/L01341X/1Medical Research Council MR/L01632X/1Medical Research Council MR/M501633/1Medical Research Council MR/M501633/2NCATS NIH HHS KL2 TR001109NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001881NCI NIH HHS P30 CA008748NCI NIH HHS UM1 CA182913NEI NIH HHS R01 EY022310NHGRI NIH HHS U01 HG007417NHGRI NIH HHS U01 HG008657NHLBI NIH HHS HHSN268201100046CNHLBI NIH HHS HHSN268201300046CNHLBI NIH HHS K23 HL114724NHLBI NIH HHS K99 HL130580NHLBI NIH HHS N01 HC095159NHLBI NIH HHS R01 HL117078NHLBI NIH HHS R01 HL119443NHLBI NIH HHS R01 HL127564NHLBI NIH HHS R35 HL135824NHLBI NIH HHS T32 HL007055NICHD NIH HHS P2C HD050924NICHD NIH HHS R01 HD057194NIDDK NIH HHS DP3 DK108220NIDDK NIH HHS P30 DK020572NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK072193NIDDK NIH HHS R01 DK075787NIDDK NIH HHS R01 DK089256NIDDK NIH HHS R01 DK093757NIDDK NIH HHS R01 DK106621NIDDK NIH HHS R01 DK107904NIDDK NIH HHS U01 DK062370NIGMS NIH HHS T32 GM096911NIH HHS S10 OD018522NIMH NIH HHS R01 MH090553Wellcome Trust 068545/Z/02Wellcome Trust 202802/Z/16/Z
6 · The paper itself

Abstract

Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.

Indexed as

ADAMTS ProteinsAdultAllelesBody HeightCell Adhesion MoleculesFemaleGene FrequencyGenetic VariationGenome, HumanGlycoproteinsGlycosaminoglycansHedgehog ProteinsHumansIntercellular Signaling Peptides and ProteinsInterferon Regulatory FactorsInterleukin-11 Receptor alpha SubunitADAMTS3 protein, humanADAMTS ProteinsAR protein, humanCell Adhesion MoleculesCRISPLD2 protein, humanGlycoproteinsGlycosaminoglycansHedgehog ProteinsIHH protein, humanIL11RA protein, humanIntercellular Signaling Peptides and ProteinsInterferon Regulatory FactorsInterleukin-11 Receptor alpha SubunitNADPH Oxidase 4NADPH OxidasesNOX4 protein, humanPregnancy-Associated Plasma Protein-AProcollagen N-EndopeptidaseProteoglycansReceptors, AndrogenSomatomedinsSTC2 protein, human

Identifiers

PMID28146470
PMCPMC5302847
OpenAlexW2584469054

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