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

Jimmy Z. Liu, Sarah E. Medland, Margaret J. Wright, Anjali K. Henders, Andrew C. Heath, Pamela A.F. Madden, Alexis Duncan, Grant W. Montgomery, Nicholas G. Martin, Allan F. McRae

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


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.

Original languageEnglish
Pages (from-to)179-193
Number of pages15
JournalTwin Research and Human Genetics
Issue number2
StatePublished - Apr 2010


  • BMI
  • Genetics
  • Height
  • Replication


Dive into the research topics of 'Genome-wide association study of height and body mass index in Australian twin families'. Together they form a unique fingerprint.

Cite this