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

Abstract

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 genomewide significant variant for height ( P value = 1.06 &timesl 10 9) located in HHIP, a well-replicated height-associated gene. Suggestive levels of association were found for other known genes associated with height ( Pvalues < 1 × 10-6): ADAMTSL3, EFEMP1, GPR126, and HMGA2; and BMI ( Pvalues < 1 × 10-4): FTO and MC4R. Together, these variants explain less than 2% of total phenotypic variation for height and 0.5% for BMI.