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

  • Jimmy Z. Liu (a1), Sarah E. Medland (a2), Margaret J. Wright (a3), Anjali K. Henders (a4), Andrew C. Heath (a5), Pamela A. F. Madden (a6), Alexis Duncan (a7), Grant W. Montgomery (a8), Nicholas G. Martin (a9) and Allan F. McRae (a10)
  • DOI: http://dx.doi.org/10.1375/twin.13.2.179
  • Published online: 01 February 2012
Abstract
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 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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Corresponding author
*Address for correspondence: Allan F. McRae, Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, Brisbane QLD 4029, Australia.
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Twin Research and Human Genetics
  • ISSN: 1832-4274
  • EISSN: 1839-2628
  • URL: /core/journals/twin-research-and-human-genetics
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