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, Sina Rüeger, Gudmar Thorleifsson, Anne E. Justice, David Lamparter, Kathleen E. Stirrups, Valérie Turcot, Kristin L. Young, Thomas W. Winkler, Tõnu Esko, Tugce Karaderi, Adam E. Locke, Nicholas G. D. Masca, Maggie C. Y. Ng, Poorva Mudgal, Manuel A. Rivas, Sailaja Vedantam, Anubha Mahajan, Xiuqing Guo, Goncalo Abecasis, Katja K. Aben, Linda S. Adair, Dewan S. Alam, Eva Albrecht, Kristine H. Allin, Matthew Allison, Philippe Amouyel, Emil V. Appel, Dominique Arveiler, Folkert W. Asselbergs, Paul L. Auer, Beverley Balkau, Bernhard Banas, Lia E. Bang, Marianne Benn, Sven Bergmann, Lawrence F. Bielak, Matthias Blüher, Heiner Boeing, Eric Boerwinkle, Carsten A. Böger, Lori L. Bonnycastle, Jette Bork-Jensen, Michiel L. Bots, Erwin P. Bottinger, Donald W. Bowden, Ivan Brandslund, Gerome Breen, Murray H. Brilliant, Linda Broer, Amber A. Burt, Adam S. Butterworth, David J. Carey, Mark J. Caulfield, John C. Chambers, Daniel I. Chasman, Yii- Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y. Chu, Massimiliano Cocca, Francis S. Collins, James P. Cook, Janie Corley, Jordi Corominas Galbany, Amanda J. Cox, Gabriel Cuellar-Partida, John Danesh, Gail Davies, Paul I. W. de Bakker, Gert J. de Borst, Simon de Denus, Mark C. H. de Groot, Renée de Mutsert, Ian J. Deary, George Dedoussis, Ellen W. Demerath, Anneke I. den Hollander, Joe G. Dennis, Emanuele Di Angelantonio, Fotios Drenos, Mengmeng Du, Alison M. Dunning, Douglas F. Easton, Tapani Ebeling, Todd L. Edwards, Patrick T. Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, Jessica D. Faul, Mary F. Feitosa, Shuang Feng, Ele Ferrannini, Marco M. Ferrario, Jean Ferrieres, Jose C. Florez, Ian Ford, Myriam Fornage, Paul W. Franks, Ruth Frikke-Schmidt, Tessel E. Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Ayush Giri, Giorgia Girotto, Scott D. Gordon, Penny Gordon-Larsen, Mathias Gorski, Niels Grarup, Megan L. Grove, Vilmundur Gudnason, Stefan Gustafsson, Torben Hansen, Kathleen Mullan Harris, Tamara B. Harris, Andrew T. Hattersley, Caroline Hayward, Liang He, Iris M. Heid, Kauko Heikkilä, Øyvind Helgeland, Jussi Hernesniemi, Alex W. Hewitt, Lynne J. Hocking, Mette Hollensted, Oddgeir L. Holmen, G. Kees Hovingh, Joanna M. M. Howson, Carel B. Hoyng, Paul L. Huang, Kristian Hveem, M. Arfan Ikram, Erik Ingelsson, Anne U. Jackson, Jan-Håkan Jansson, Gail P. Jarvik, Gorm B. Jensen, Min A. Jhun, Yucheng Jia, Xuejuan Jiang, Stefan Johansson, Marit E. Jørgensen, Torben Jørgensen, Pekka Jousilahti, J. Wouter Jukema, Bratati Kahali, René S. Kahn, Mika Kähönen, Pia R. Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L. R. Kardia, Fredrik Karpe, Frank Kee, Renske Keeman, Lambertus A. Kiemeney, Hidetoshi Kitajima, Kirsten B. Kluivers, Thomas Kocher, Pirjo Komulainen, Jukka Kontto, Jaspal S. Kooner, Charles Kooperberg, Peter Kovacs, Jennifer Kriebel, Helena Kuivaniemi, Sébastien Küry, Johanna Kuusisto, Martina La Bianca, Markku Laakso, Timo A. Lakka, Ethan M. Lange, Leslie A. Lange, Carl D. Langefeld, Claudia Langenberg, Eric B. Larson, I-Te Lee, Terho Lehtimäki, Cora E. Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Yeheng Liu, Yongmei Liu, Artitaya Lophatananon, Jian'an Luan, Steven A. Lubitz, Leo-Pekka Lyytikäinen, David A. Mackey, Pamela A. F. Madden, Alisa K. Manning, Satu Männistö, Gaëlle Marenne, Jonathan Marten, Nicholas G. Martin, Angela L. Mazul, Karina Meidtner, Andres Metspalu, Paul Mitchell, Karen L. Mohlke, Dennis O. Mook-Kanamori, Anna Morgan, Andrew D. Morris, Andrew P. Morris, Martina Müller-Nurasyid, Patricia B. Munroe, Mike A. Nalls, Matthias Nauck, Christopher P. Nelson, Matt Neville, Sune F. Nielsen, Kjell Nikus, Pål R. Njølstad, Børge G. Nordestgaard, Ioanna Ntalla, Jeffrey R. O'Connel, Heikki Oksa, Loes M. Olde Loohuis, Roel A. Ophoff, Katharine R. Owen, Chris J. Packard, Sandosh Padmanabhan, Colin N. A. Palmer, Gerard Pasterkamp, Aniruddh P. Patel, Alison Pattie, Oluf Pedersen, Peggy L. Peissig, Gina M. Peloso, Craig E. Pennell, Markus Perola, James A. Perry, John R. B. Perry, Thomas N. Person, Ailith Pirie, Ozren Polasek, Danielle Posthuma, Olli T. Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F. Reilly, Alex P. Reiner, Frida Renström, Paul M. Ridker, John D. Rioux, Neil Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S. Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J. Samani, Kevin Sandow, Yadav Sapkota, Naveed Sattar, Marjanka K. Schmidt, Pamela J. Schreiner, Matthias B. Schulze, Robert A. Scott, Marcelo P. Segura-Lepe, Svati Shah, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S. Small, Albert Vernon Smith, Jennifer A. Smith, Lorraine Southam, Timothy D. Spector, Elizabeth K. Speliotes, John M. Starr, Valgerdur Steinthorsdottir, Heather M. Stringham, Michael Stumvoll, Praveen Surendran, Leen M. ‘t Hart, Katherine E. Tansey, Jean-Claude Tardif, Kent D. Taylor, Alexander Teumer, Deborah J. Thompson, Unnur Thorsteinsdottir, Betina H. Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P. Tyrer, Rudolf Uher, André G. Uitterlinden, Sheila Ulivi, Sander W. van der Laan, Andries R. Van Der Leij, Cornelia M. van Duijn, Natasja M. van Schoor, Jessica van Setten, Anette Varbo, Tibor V. Varga, Rohit Varma, Digna R. Velez Edwards, Sita H. Vermeulen, Henrik Vestergaard, Veronique Vitart, Thomas F. Vogt, Diego Vozzi, Mark Walker, Feijie Wang, Carol A. Wang, Shuai Wang, Yiqin Wang, Nicholas J. Wareham, Helen R. Warren, Jennifer Wessel, Sara M. Willems, James G. Wilson, Daniel R. Witte, Michael O. Woods, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M. Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhao, He Zheng, Wei Zhou, Jerome I Rotter, Michael Boehnke, Sekar Kathiresan, Mark I. McCarthy, Cristen J. Willer, Kari Stefansson, Ingrid B. Borecki, Dajiang J. Liu, Kari E. North, Nancy L. Heard-Costa, Tune H. Pers, Cecilia M. Lindgren, Claus Oxvig, Zoltán Kutalik, Fernando Rivadeneira, Ruth J. F. Loos, Timothy M. Frayling, Joel N. Hirschhorn (), Panos Deloukas () and Guillaume Lettre ()
Additional contact information
Eirini Marouli: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Mariaelisa Graff: University of North Carolina
Carolina Medina-Gomez: Erasmus Medical Center
Ken Sin Lo: Montreal Heart Institute
Andrew R. Wood: Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
Troels R. Kjaer: Aarhus University
Rebecca S. Fine: Broad Institute of MIT and Harvard
Yingchang Lu: Vanderbilt-Ingram Cancer Center, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine
Claudia Schurmann: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Heather M. Highland: University of North Carolina
Sina Rüeger: Institute of Social and Preventive Medicine, Lausanne University Hospital
Gudmar Thorleifsson: deCODE Genetics/Amgen inc.
Anne E. Justice: University of North Carolina
David Lamparter: Swiss Institute of Bioinformatics
Kathleen E. Stirrups: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Valérie Turcot: Montreal Heart Institute
Kristin L. Young: University of North Carolina
Thomas W. Winkler: University of Regensburg
Tõnu Esko: Broad Institute of MIT and Harvard
Tugce Karaderi: Wellcome Trust Centre for Human Genetics, University of Oxford
Adam E. Locke: University of Michigan
Nicholas G. D. Masca: Univeristy of Leicester, Glenfield Hospital
Maggie C. Y. Ng: Center for Diabetes Research, Wake Forest School of Medicine
Poorva Mudgal: Center for Diabetes Research, Wake Forest School of Medicine
Manuel A. Rivas: Broad Institute of MIT and Harvard
Sailaja Vedantam: Broad Institute of MIT and Harvard
Anubha Mahajan: Wellcome Trust Centre for Human Genetics, University of Oxford
Xiuqing Guo: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Goncalo Abecasis: University of Michigan
Katja K. Aben: Netherlands Comprehensive Cancer Organisation
Linda S. Adair: University of North Carolina
Dewan S. Alam: Centre for Control of Chronic Diseases (CCCD)
Eva Albrecht: Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health
Kristine H. Allin: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Matthew Allison: University of California, San Diego
Philippe Amouyel: INSERM U1167
Emil V. Appel: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Dominique Arveiler: University of Strasbourg
Folkert W. Asselbergs: University Medical Center Utrecht
Paul L. Auer: Zilber School of Public Health, University of Wisconsin-Milwaukee
Beverley Balkau: INSERM U1018, Centre de recherche en Épidemiologie et Sante des Populations (CESP)
Bernhard Banas: University Hospital Regensburg
Lia E. Bang: Rigshospitalet, Copenhagen University Hospital
Marianne Benn: Herlev and Gentofte Hospital, Copenhagen University Hospital
Sven Bergmann: Swiss Institute of Bioinformatics
Lawrence F. Bielak: School of Public Health, University of Michigan
Matthias Blüher: IFB Adiposity Diseases, University of Leipzig
Heiner Boeing: German Institute of Human Nutrition Potsdam-Rehbruecke (DIfE)
Eric Boerwinkle: School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston
Carsten A. Böger: University Hospital Regensburg
Lori L. Bonnycastle: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
Jette Bork-Jensen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Michiel L. Bots: Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht
Erwin P. Bottinger: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Donald W. Bowden: Center for Diabetes Research, Wake Forest School of Medicine
Ivan Brandslund: Lillebaelt Hospital
Gerome Breen: MRC 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
Murray H. Brilliant: Marshfield Clinic Research Foundation
Linda Broer: Erasmus Medical Center
Amber A. Burt: University of Washington
Adam S. Butterworth: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
David J. Carey: The Sigfried and Janet Weis Center for Research
Mark J. Caulfield: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
John C. Chambers: London North West Healthcare NHS Trust, Ealing Hospital
Daniel I. Chasman: Broad Institute of MIT and Harvard
Yii- Der Ida Chen: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Rajiv Chowdhury: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
Cramer Christensen: Lillebaelt Hospital
Audrey Y. Chu: Brigham and Women's and Harvard Medical School
Massimiliano Cocca: Surgical and Health Sciences, University of Trieste
Francis S. Collins: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health
James P. Cook: University of Liverpool
Janie Corley: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh
Jordi Corominas Galbany: Radboud University Medical Center
Amanda J. Cox: Center for Diabetes Research, Wake Forest School of Medicine
Gabriel Cuellar-Partida: Diamantina Institute, University of Qeensland
John Danesh: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
Gail Davies: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh
Paul I. W. de Bakker: Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht
Gert J. de Borst: University Medical Center Utrecht
Simon de Denus: Montreal Heart Institute
Mark C. H. de Groot: University Medical Center Utrecht
Renée de Mutsert: Leiden University Medical Center
Ian J. Deary: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh
George Dedoussis: School of Health Science and Education, Harokopio University
Ellen W. Demerath: School of Public Health, University of Minnesota
Anneke I. den Hollander: Radboud University Medical Center
Joe G. Dennis: Centre for Cancer Genetic Epidemiology, University of Cambridge
Emanuele Di Angelantonio: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
Fotios Drenos: Institute of Cardiovascular Science, University College London
Mengmeng Du: Fred Hutchinson Cancer Research Center
Alison M. Dunning: Centre for Cancer Genetic Epidemiology, University of Cambridge
Douglas F. Easton: Centre for Cancer Genetic Epidemiology, University of Cambridge
Tapani Ebeling: Oulu University Hospital
Todd L. Edwards: Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University
Patrick T. Ellinor: Massachusetts General Hospital
Paul Elliott: MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London
Evangelos Evangelou: School of Public Health, Imperial College London
Aliki-Eleni Farmaki: School of Health Science and Education, Harokopio University
Jessica D. Faul: Survey Research Center, Institute for Social Research, University of Michigan
Mary F. Feitosa: Washington University School of Medicine
Shuang Feng: University of Michigan
Ele Ferrannini: CNR Institute of Clinical Physiology
Marco M. Ferrario: Research Center on Epidemiology and Preventive Medicine, University of Insubria
Jean Ferrieres: Toulouse University School of Medicine
Jose C. Florez: Massachusetts General Hospital
Ian Ford: University of Glasgow
Myriam Fornage: Institute of Molecular Medicine, The University of Texas Health Science Center at Houston
Paul W. Franks: Genetic and Molecular Epidemiology Unit, Lund University
Ruth Frikke-Schmidt: Faculty of Health and Medical Sciences, University of Copenhagen
Tessel E. Galesloot: Radboud University Medical Center
Wei Gan: Wellcome Trust Centre for Human Genetics, University of Oxford
Ilaria Gandin: University of Trieste
Paolo Gasparini: University of Trieste
Vilmantas Giedraitis: Geriatrics, Uppsala University
Ayush Giri: Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University
Giorgia Girotto: University of Trieste
Scott D. Gordon: QIMR Berghofer Medical Research Institute
Penny Gordon-Larsen: Carolina Population Center, University of North Carolina
Mathias Gorski: University of Regensburg
Niels Grarup: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Megan L. Grove: School of Public Health, Human Genetics Center, The University of Texas Health Science Center at Houston
Vilmundur Gudnason: Faculty of Medicine, University of Iceland
Stefan Gustafsson: Molecular Epidemiology and Science for Life Laboratory, Uppsala University
Torben Hansen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Kathleen Mullan Harris: Carolina Population Center, University of North Carolina
Tamara B. Harris: Laboratory of Epidemiology and Population Sciences, National Institute on Aging, Intramural Research Program, National Institutes of Health
Andrew T. Hattersley: University of Exeter Medical School, University of Exeter
Caroline Hayward: MRCHGU, Institute of Genetics and Molecular Medicine, University of Edinburgh
Liang He: Biodemography of Aging Research Unit, Social Science Research Institute, Duke University
Iris M. Heid: University of Regensburg
Kauko Heikkilä: University of Helsinki
Øyvind Helgeland: Haukeland University Hospital
Jussi Hernesniemi: Heart Center, Tampere University Hospital
Alex W. Hewitt: Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne
Lynne J. Hocking: Generation Scotland, Centre for Genomic and Experimental Medicine, University of Edinburgh
Mette Hollensted: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Oddgeir L. Holmen: K.G. Jebsen Center for Genetic Epidemiology, NTNU, Norwegian University of Science and Technology
G. Kees Hovingh: AMC
Joanna M. M. Howson: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
Carel B. Hoyng: Radboud University Medical Center
Paul L. Huang: Massachusetts General Hospital
Kristian Hveem: HUNT Research Centre, Norwegian University of Science and Technology
M. Arfan Ikram: Erasmus Medical Center
Erik Ingelsson: Molecular Epidemiology and Science for Life Laboratory, Uppsala University
Anne U. Jackson: University of Michigan
Jan-Håkan Jansson: Umeå University
Gail P. Jarvik: University of Washington
Gorm B. Jensen: The Copenhagen City Heart Study, Frederiksberg Hospital
Min A. Jhun: School of Public Health, University of Michigan
Yucheng Jia: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Xuejuan Jiang: Keck School of Medicine of the University of California
Stefan Johansson: KG Jebsen Center for Diabetes Research, University of Bergen
Marit E. Jørgensen: National Institute of Public Health, University of Southern Denmark
Torben Jørgensen: Faculty of Health and Medical Sciences, University of Copenhagen
Pekka Jousilahti: National Institute for Health and Welfare
J. Wouter Jukema: Leiden University Medical Center
Bratati Kahali: University of Michigan
René S. Kahn: Brain Center Rudolf Magnus, University Medical Center Utrecht
Mika Kähönen: University of Tampere School of Medicine
Pia R. Kamstrup: Herlev and Gentofte Hospital, Copenhagen University Hospital
Stavroula Kanoni: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Jaakko Kaprio: University of Helsinki
Maria Karaleftheri: Echinos Medical Centre
Sharon L. R. Kardia: School of Public Health, University of Michigan
Fredrik Karpe: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
Frank Kee: UKCRC Centre of Excellence for Public Health Research, Queens University Belfast
Renske Keeman: Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital
Lambertus A. Kiemeney: Radboud University Medical Center
Hidetoshi Kitajima: Wellcome Trust Centre for Human Genetics, University of Oxford
Kirsten B. Kluivers: Radboud University Medical Center
Thomas Kocher: Periodontology and Endodontology, University Medicine Greifswald
Pirjo Komulainen: Foundation for Research in Health Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine
Jukka Kontto: National Institute for Health and Welfare
Jaspal S. Kooner: London North West Healthcare NHS Trust, Ealing Hospital
Charles Kooperberg: Fred Hutchinson Cancer Research Center
Peter Kovacs: IFB Adiposity Diseases, University of Leipzig
Jennifer Kriebel: German Center for Diabetes Research
Helena Kuivaniemi: The Sigfried and Janet Weis Center for Research
Sébastien Küry: CHU Nantes, Service de Génétique Médicale
Johanna Kuusisto: Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital
Martina La Bianca: Institute for Maternal and Child Health - IRCCS ‘Burlo Garofolo’
Markku Laakso: Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital
Timo A. Lakka: Foundation for Research in Health Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine
Ethan M. Lange: University of North Carolina, Chapel Hill
Leslie A. Lange: University of North Carolina, Chapel Hill
Carl D. Langefeld: Wake Forest School of Medicine, Winston-Salem
Claudia Langenberg: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
Eric B. Larson: University of Washington
I-Te Lee: Taichung Veterans General Hospital
Terho Lehtimäki: Fimlab Laboratories
Cora E. Lewis: Division of Preventive Medicine University of Alabama at Birmingham
Huaixing Li: Key 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
Jin Li: Stanford University School of Medicine
Ruifang Li-Gao: Leiden University Medical Center
Honghuang Lin: Boston University School of Medicine
Li-An Lin: Institute of Molecular Medicine, The University of Texas Health Science Center at Houston
Xu Lin: Key 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
Lars Lind: Uppsala University
Jaana Lindström: National Institute for Health and Welfare
Allan Linneberg: Faculty of Health and Medical Sciences, University of Copenhagen
Yeheng Liu: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Yongmei Liu: Wake Forest School of Medicine
Artitaya Lophatananon: Warwick Medical School, Warwick University
Jian'an Luan: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
Steven A. Lubitz: Massachusetts General Hospital
Leo-Pekka Lyytikäinen: Fimlab Laboratories
David A. Mackey: Centre for Ophthalmology and Vision Science, Lions Eye Institute, University of Western Australia
Pamela A. F. Madden: Washington University
Alisa K. Manning: Massachusetts General Hospital
Satu Männistö: National Institute for Health and Welfare
Gaëlle Marenne: Wellcome Trust Sanger Institute, Wellcome Genome Campus
Jonathan Marten: MRCHGU, Institute of Genetics and Molecular Medicine, University of Edinburgh
Nicholas G. Martin: QIMR Berghofer Medical Research Institute
Angela L. Mazul: University of North Carolina
Karina Meidtner: German Center for Diabetes Research
Andres Metspalu: Estonian Genome Center, University of Tartu
Paul Mitchell: Westmead Millennium Institute of Medical Research, University of Sydney
Karen L. Mohlke: University of North Carolina, Chapel Hill
Dennis O. Mook-Kanamori: Leiden University Medical Center
Anna Morgan: University of Trieste
Andrew D. Morris: Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh
Andrew P. Morris: Wellcome Trust Centre for Human Genetics, University of Oxford
Martina Müller-Nurasyid: Institute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health
Patricia B. Munroe: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Mike A. Nalls: Laboratory of Neurogenetics, National Institute on Aging, NIH
Matthias Nauck: DZHK (German Centre for Cardiovascular Research), partner site Greifswald
Christopher P. Nelson: Univeristy of Leicester, Glenfield Hospital
Matt Neville: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
Sune F. Nielsen: Herlev and Gentofte Hospital, Copenhagen University Hospital
Kjell Nikus: Heart Center, Tampere University Hospital and School of Medicine, University of Tampere
Pål R. Njølstad: Haukeland University Hospital
Børge G. Nordestgaard: Herlev and Gentofte Hospital, Copenhagen University Hospital
Ioanna Ntalla: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Jeffrey R. O'Connel: Program in Personalized Medicine, University of Maryland School of Medicine
Heikki Oksa: Tampere University Hospital
Loes M. Olde Loohuis: Center for Neurobehavioral Genetics, UCLA
Roel A. Ophoff: Brain Center Rudolf Magnus, University Medical Center Utrecht
Katharine R. Owen: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
Chris J. Packard: University of Glasgow
Sandosh Padmanabhan: University of Glasgow
Colin N. A. Palmer: Pat Macpherson Centre for Pharmacogenetics and Pharmacogenomics, Medical Research Institute, Ninewells Hospital and Medical School
Gerard Pasterkamp: Laboratory of Clinical Chemistry and Hematology, University Medical Center Utrecht
Aniruddh P. Patel: Broad Institute of MIT and Harvard
Alison Pattie: University of Edinburgh
Oluf Pedersen: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Peggy L. Peissig: Marshfield Clinic Research Foundation
Gina M. Peloso: Massachusetts General Hospital
Craig E. Pennell: School of Women’s and Infants’ Health, The University of Western Australia
Markus Perola: National Institute for Health and Welfare
James A. Perry: Program in Personalized Medicine, University of Maryland School of Medicine
John R. B. Perry: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
Thomas N. Person: Marshfield Clinic Research Foundation
Ailith Pirie: Centre for Cancer Genetic Epidemiology, University of Cambridge
Ozren Polasek: Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh
Danielle Posthuma: Center for Neurogenomics and Cognitive Research, VU University
Olli T. Raitakari: Turku University Hospital
Asif Rasheed: Centre for Non-Communicable Diseases
Rainer Rauramaa: Foundation for Research in Health Exercise and Nutrition, Kuopio Research Institute of Exercise Medicine
Dermot F. Reilly: MRL, Merck & Co., Inc., Genetics and Pharmacogenomics
Alex P. Reiner: Fred Hutchinson Cancer Research Center
Frida Renström: Genetic and Molecular Epidemiology Unit, Lund University
Paul M. Ridker: Brigham and Women's and Harvard Medical School
John D. Rioux: Montreal Heart Institute
Neil Robertson: Wellcome Trust Centre for Human Genetics, University of Oxford
Antonietta Robino: Institute for Maternal and Child Health - IRCCS ‘Burlo Garofolo’
Olov Rolandsson: Umeå University
Igor Rudan: Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh
Katherine S. Ruth: Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
Danish Saleheen: Centre for Non-Communicable Diseases
Veikko Salomaa: National Institute for Health and Welfare
Nilesh J. Samani: Univeristy of Leicester, Glenfield Hospital
Kevin Sandow: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Yadav Sapkota: QIMR Berghofer Medical Research Institute
Naveed Sattar: University of Glasgow
Marjanka K. Schmidt: Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital
Pamela J. Schreiner: Division of Epidemiology & Community Health University of Minnesota
Matthias B. Schulze: German Center for Diabetes Research
Robert A. Scott: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
Marcelo P. Segura-Lepe: School of Public Health, Imperial College London
Svati Shah: Duke University
Xueling Sim: University of Michigan
Suthesh Sivapalaratnam: Massachusetts General Hospital
Kerrin S. Small: Kingís College London
Albert Vernon Smith: Faculty of Medicine, University of Iceland
Jennifer A. Smith: School of Public Health, University of Michigan
Lorraine Southam: Wellcome Trust Centre for Human Genetics, University of Oxford
Timothy D. Spector: Kingís College London
Elizabeth K. Speliotes: University of Michigan
John M. Starr: Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh
Valgerdur Steinthorsdottir: deCODE Genetics/Amgen inc.
Heather M. Stringham: University of Michigan
Michael Stumvoll: IFB Adiposity Diseases, University of Leipzig
Praveen Surendran: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
Leen M. ‘t Hart: VU University Medical Center
Katherine E. Tansey: College of Biomedical and Life Sciences, Cardiff University
Jean-Claude Tardif: Montreal Heart Institute
Kent D. Taylor: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Alexander Teumer: Institute for Community Medicine, University Medicine Greifswald
Deborah J. Thompson: Centre for Cancer Genetic Epidemiology, University of Cambridge
Unnur Thorsteinsdottir: deCODE Genetics/Amgen inc.
Betina H. Thuesen: Research Center for Prevention and Health, Capital Region of Denmark
Anke Tönjes: Center for Pediatric Research, University of Leipzig
Gerard Tromp: The Sigfried and Janet Weis Center for Research
Stella Trompet: Leiden University Medical Center
Emmanouil Tsafantakis: Anogia Medical Centre
Jaakko Tuomilehto: National Institute for Health and Welfare
Anne Tybjaerg-Hansen: Faculty of Health and Medical Sciences, University of Copenhagen
Jonathan P. Tyrer: Centre for Cancer Genetic Epidemiology, University of Cambridge
Rudolf Uher: Dalhousie University
André G. Uitterlinden: Erasmus Medical Center
Sheila Ulivi: Institute for Maternal and Child Health - IRCCS ‘Burlo Garofolo’
Sander W. van der Laan: Laboratory of Experimental Cardiology, University Medical Center Utrecht
Andries R. Van Der Leij: University of Amsterdam
Cornelia M. van Duijn: Erasmus Medical Center
Natasja M. van Schoor: VU University Medical Center
Jessica van Setten: University Medical Center Utrecht
Anette Varbo: Herlev and Gentofte Hospital, Copenhagen University Hospital
Tibor V. Varga: Genetic and Molecular Epidemiology Unit, Lund University
Rohit Varma: USC Roski Eye Institute, Keck School of Medicine of the University of Southern California
Digna R. Velez Edwards: Institute for Medicine and Public Health, Vanderbilt Genetics Institute, Vanderbilt University
Sita H. Vermeulen: Radboud University Medical Center
Henrik Vestergaard: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Veronique Vitart: MRCHGU, Institute of Genetics and Molecular Medicine, University of Edinburgh
Thomas F. Vogt: MRL, Merck & Co., Inc., Cardiometabolic Disease
Diego Vozzi: Sidra Medical and Research Center
Mark Walker: Institute of Cellular Medicine, The Medical School, Newcastle University
Feijie Wang: Key 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
Carol A. Wang: School of Women’s and Infants’ Health, The University of Western Australia
Shuai Wang: Boston University School of Public Health
Yiqin Wang: Key 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
Nicholas J. Wareham: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
Helen R. Warren: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Jennifer Wessel: Diabetes Translational Research Center, Fairbanks School of Public Health & School of Medicine, Indiana University
Sara M. Willems: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
James G. Wilson: University of Mississippi Medical Center
Daniel R. Witte: Danish Diabetes Academy
Michael O. Woods: Memorial University, Faculty of Medicine, Discipline of Genetics, St. John’s
Ying Wu: University of North Carolina, Chapel Hill
Hanieh Yaghootkar: Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
Jie Yao: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Pang Yao: Key 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
Laura M. Yerges-Armstrong: Program in Personalized Medicine, University of Maryland School of Medicine
Robin Young: MRC/BHF Cardiovascular Epidemiology Unit, University of Cambridge
Eleftheria Zeggini: Wellcome Trust Sanger Institute, Wellcome Genome Campus
Xiaowei Zhan: Quantitative Biomedical Research Center, Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center
Weihua Zhang: London North West Healthcare NHS Trust, Ealing Hospital
Jing Hua Zhao: MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science
Wei Zhao: Perelman School of Medicine, University of Pennsylvania
Wei Zhao: School of Public Health, University of Michigan
He Zheng: Key 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
Wei Zhou: University of Michigan
Jerome I Rotter: Institute for Translational Genomics and Population Sciences, LABioMed at Harbor-UCLA Medical Center
Michael Boehnke: University of Michigan
Sekar Kathiresan: Broad Institute of MIT and Harvard
Mark I. McCarthy: Wellcome Trust Centre for Human Genetics, University of Oxford
Cristen J. Willer: University of Michigan
Kari Stefansson: deCODE Genetics/Amgen inc.
Ingrid B. Borecki: Washington University School of Medicine
Dajiang J. Liu: Institute for Personalized Medicine, the Pennsylvania State University College of Medicine
Kari E. North: Department of Epidemiology and Carolina Center of Genome Sciences
Nancy L. Heard-Costa: NHLBI Framingham Heart Study
Tune H. Pers: The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen
Cecilia M. Lindgren: Wellcome Trust Centre for Human Genetics, University of Oxford
Claus Oxvig: Aarhus University
Zoltán Kutalik: Institute of Social and Preventive Medicine, Lausanne University Hospital
Fernando Rivadeneira: Erasmus Medical Center
Ruth J. F. Loos: The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai
Timothy M. Frayling: Genetics of Complex Traits, University of Exeter Medical School, University of Exeter
Joel N. Hirschhorn: Broad Institute of MIT and Harvard
Panos Deloukas: William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London
Guillaume Lettre: Montreal Heart Institute

Nature, 2017, vol. 542, issue 7640, 186-190

Abstract: 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.

Date: 2017
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DOI: 10.1038/nature21039

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