Common variants in the GDF5-UQCC region are associated with variation in human height

Serena Sanna; Anne U. Jackson; Ramaiah Nagaraja; Cristen J. Willer; Wei-Min Chen; Lori L. Bonnycastle; Haiqing Shen; Nicholas Timpson; Guillaume Lettre; Gianluca Usala; Peter S. Chines; Heather M. Stringham; Laura J. Scott; Mariano Dei; Sandra Lai; Giuseppe Albai; Laura Crisponi; Silvia Naitza; Kimberly F. Doheny; Elizabeth W. Pugh; Yoav Ben-Shlomo; Shah Ebrahim; Debbie A. Lawlor; Richard N. Bergman; Richard M. Watanabe; Manuela Uda; Jaakko Tuomilehto; Josef Coresh; Joel N. Hirschhorn; Alan R. Shuldiner; David Schlessinger; Francis S. Collins; George Davey Smith; Eric Boerwinkle; Antonio Cao; Michael Boehnke; Goncalo R. Abecasis; Karen L. Mohlke

doi:10.1038/ng.74

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Common variants in the GDF5-UQCC region are associated with variation in human height

Journal article

Peer reviewed

Common variants in the GDF5-UQCC region are associated with variation in human height

Serena Sanna, Anne U. Jackson, Ramaiah Nagaraja, Cristen J. Willer, Wei-Min Chen, Lori L. Bonnycastle, Haiqing Shen, Nicholas Timpson, Guillaume Lettre, Gianluca Usala, …

Nature genetics, Vol.40(2), pp.198-203

01/02/2008

DOI: https://doi.org/10.1038/ng.74

PMID: 18193045

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Identifying genetic variants that influence human height will advance our understanding of skeletal growth and development. Several rare genetic variants have been convincingly and reproducibly associated with height in mendelian syndromes, and common variants in the transcription factor gene HMGA2 are associated with variation in height in the general population(1). Here we report genome-wide association analyses, using genotyped and imputed markers, of 6,669 individuals from Finland and Sardinia, and follow-up analyses in an additional 28,801 individuals. We show that common variants in the osteoarthritis-associated locus(2) GDF5-UQCC contribute to variation in height with an estimated additive effect of 0.44 cm (overall P < 10(-15)). Our results indicate that there may be a link between the genetic basis of height and osteoarthritis, potentially mediated through alterations in bone growth and development.

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Title: Common variants in the GDF5-UQCC region are associated with variation in human height
Creators - without role: Serena Sanna - Biostat
Anne U. Jackson - University of Michigan–Ann Arbor
Ramaiah Nagaraja - National Institute on Aging
Cristen J. Willer - Statistical Research
Wei-Min Chen - Biostat
Lori L. Bonnycastle - National Human Genome Research Institute
Haiqing Shen - University of Maryland, Baltimore
Nicholas Timpson - University of Bristol
Guillaume Lettre - Broad Institute
Gianluca Usala - Institute of Genetic and Biomedical Research
Peter S. Chines - National Human Genome Research Institute
Heather M. Stringham - University of Michigan–Ann Arbor
Laura J. Scott - University of Michigan–Ann Arbor
Mariano Dei - Institute of Genetic and Biomedical Research
Sandra Lai - Institute of Genetic and Biomedical Research
Giuseppe Albai - Institute of Genetic and Biomedical Research
Laura Crisponi - Institute of Genetic and Biomedical Research
Silvia Naitza - Institute of Genetic and Biomedical Research
Kimberly F. Doheny - Johns Hopkins University
Elizabeth W. Pugh - Johns Hopkins University
Yoav Ben-Shlomo - University of Bristol
Shah Ebrahim - University of London
Debbie A. Lawlor - University of Bristol
Richard N. Bergman - University of Southern California
Richard M. Watanabe - University of Southern California
Manuela Uda - Institute of Genetic and Biomedical Research
Jaakko Tuomilehto - Public Health Institute
Josef Coresh - Johns Hopkins University
Joel N. Hirschhorn - Broad Institute
Alan R. Shuldiner - University of Maryland, Baltimore
David Schlessinger - National Institute on Aging
Francis S. Collins - National Human Genome Research Institute
George Davey Smith - University of Bristol
Eric Boerwinkle - The University of Texas Health Science Center at Houston
Antonio Cao - Institute of Genetic and Biomedical Research
Michael Boehnke - University of Michigan–Ann Arbor
Goncalo R. Abecasis - Statistical Research
Karen L. Mohlke - University of North Carolina at Chapel Hill
Publication Details: Nature genetics, Vol.40(2), pp.198-203
Publisher: Springer Nature
Number of pages: 6
Grant note: R41HL055018 / NATIONAL HEART, LUNG, AND BLOOD INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) R01AG018728 / NATIONAL INSTITUTE ON AGING; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute on Aging (NIA) M01RR016500 / NATIONAL CENTER FOR RESEARCH RESOURCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Research Resources (NCRR) 0820940 / Division Of Integrative Organismal Systems; National Science Foundation (NSF); NSF - Directorate for Biological Sciences (BIO) R01AR046838 / NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) 0820619 / Direct For Biological Sciences; National Science Foundation (NSF); NSF - Directorate for Biological Sciences (BIO) R01HG002651 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) R01 AG018728; AG18728 / NIA NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute on Aging (NIA) R01 HG002651-05S2; HG002651; N01HG65403; R01 HG002651 / NHGRI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) AR046838; R01 AR046838 / NIAMS NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS) G0600705; G0000934 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission U01 DK062370; R01 DK062370; P30 DK072488; R01 DK072193-04; DK062370; R01 DK029867; R56 DK062370; DK072193; DK54361; R01 DK072193 / NIDDK NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) 068545/Z/02 / Wellcome Trust; European Commission 1020271 / Division Of Environmental Biology; National Science Foundation (NSF); NSF - Directorate for Biological Sciences (BIO) M01 RR016500; M01 RR 16500 / NCRR NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Research Resources (NCRR) N01HC055019 / DIVISION OF EPIDEMIOLOGY AND CLINICAL APPLICATIONS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI) R56DK062370 / NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) G0600705 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) N01-HC-55016; N01HC55020; U01 HL084729; N01HC55018; N01HC55021; U01 HL084729-03; U01 HL072515; N01HC55022; N01-HC-55020; N01-HC-55022; N01-HC-55018; N01-HC-55021; HL084729; N01HC55016; N01HC55019; N01-HC-55015; N01-HC-55019; N01HC55015; HL72515 / NHLBI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) Z01 HG000024 / Intramural NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
Identifiers: 9935647308331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article