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Twin Res Hum Genet. 2010 Apr;13(2):179-93. doi: 10.1375/twin.13.2.179.

Genome-wide association study of height and body mass index in Australian twin families.

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  • 1Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.


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 approximately 550,000 genotyped SNPs. We identified a single genome-wide significant variant for height (P value=1.06x10(-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<1x10(-6)): ADAMTSL3, EFEMP1, GPR126, and HMGA2; and BMI (P values<1x10(-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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