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Genome-Wide Association Study of Height and Body Mass Index in Australian Twin Families

Published online by Cambridge University Press:  21 February 2012

Jimmy Z. Liu
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
Sarah E. Medland
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
Margaret J. Wright
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
Anjali K. Henders
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
Andrew C. Heath
Affiliation:
Washington University School of Medicine, St Louis, United States of America.
Pamela A. F. Madden
Affiliation:
Washington University School of Medicine, St Louis, United States of America.
Alexis Duncan
Affiliation:
Washington University School of Medicine, St Louis, United States of America.
Grant W. Montgomery
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
Nicholas G. Martin
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.
Allan F. McRae*
Affiliation:
Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia. allan.mcrae@qimr.edu.au
*
*Address for correspondence: Allan F. McRae, Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, Brisbane QLD 4029, Australia.

Abstract

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Human height and body mass index are influenced by a large number of genes, each with small effects, along with environment. To identify common genetic variants associated with these traits, we performed genome-wide association studies in 11,536 individuals composed of Australian twins, family members, and unrelated individuals at ∼550,000 genotyped SNPs. We identified a single genome-wide significant variant for height (P value = 1.06 × 10–9) located in HHIP, a well-replicated height-associated gene. Suggestive levels of association were found for other known genes associated with height (P values < 1 × 10–6): ADAMTSL3, EFEMP1, GPR126, and HMGA2; and BMI (P values < 1 × 10–4): FTO and MC4R. Together, these variants explain less than 2% of total phenotypic variation for height and 0.5% for BMI.

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