Letter abstract
Nature Genetics 40, 198 - 203 (2008)
Published online: 13 January 2008 | doi:10.1038/ng.74
Common variants in the GDF5-UQCC region are associated with variation in human height
Serena Sanna1,2,19, Anne U Jackson1,19, Ramaiah Nagaraja3, Cristen J Willer1, Wei-Min Chen1,4, Lori L Bonnycastle5, Haiqing Shen6, Nicholas Timpson7,8, Guillaume Lettre9, Gianluca Usala2, Peter S Chines5, Heather M Stringham1, Laura J Scott1, Mariano Dei2, Sandra Lai2, Giuseppe Albai2, Laura Crisponi2, Silvia Naitza2, Kimberly F Doheny10, Elizabeth W Pugh10, Yoav Ben-Shlomo7, Shah Ebrahim11, Debbie A Lawlor7,8, Richard N Bergman12, Richard M Watanabe12,13, Manuela Uda2, Jaakko Tuomilehto14, Josef Coresh15, Joel N Hirschhorn9, Alan R Shuldiner6,16, David Schlessinger3, Francis S Collins5, George Davey Smith7,8, Eric Boerwinkle17, Antonio Cao2, Michael Boehnke1, Gonçalo R Abecasis1 & Karen L Mohlke18
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 population1. 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 locus2GDF5-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.
- Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan 48109, USA.
- Istituto di Neurogenetica e Neurofarmacologia (INN), Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
- Gerontology Research Center, National Institute on Aging, Baltimore, Maryland 21224, USA.
- Division of Biostatistics and Epidemiology, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA.
- Genome Technology Branch, National Human Genome Research Institute, Bethesda, Maryland 20892, USA.
- Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA.
- Department of Social Medicine, University of Bristol, Canynge Hall, Bristol BS8 2PR, UK.
- Medical Research Council (MRC) Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Canynge Hall, Bristol BS8 2PR, UK.
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Seven Cambridge Center, Cambridge, Massachusetts 02142, USA.
- Center for Inherited Disease Research (CIDR), Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland 21224, USA.
- London School of Hygiene and Tropical Medicine, University of London, London WC1E 7HT, UK.
- Department of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
- Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California 90089, USA.
- Diabetes Unit, Department of Health Promotion and Chronic Disease Prevention, National Public Health Institute, 00300 Helsinki, and Department of Public Health, University of Helsinki, 00014 Helsinki, Finland.
- Welch Center for Prevention, Epidemiology and Clinical Research, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21205, USA.
- Geriatric Research and Education Center, Veterans Administration Medical Center, Baltimore, Maryland 21201, USA.
- Human Genetics Center and Institute of Molecular Medicine, University of Texas Health Science Center at Houston, Houston, Texas 77225, USA.
- Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599, USA.
- These authors contributed equally to this work.
Correspondence to: Karen L Mohlke18 e-mail: mohlke@med.unc.edu
Correspondence to: Gonçalo R Abecasis1 e-mail: goncalo@umich.edu
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