Twin Research and Human Genetics

Articles

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

Jimmy Z. Liua1, Sarah E. Medlanda2, Margaret J. Wrighta3, Anjali K. Hendersa4, Andrew C. Heatha5, Pamela A. F. Maddena6, Alexis Duncana7, Grant W. Montgomerya8, Nicholas G. Martina9 and Allan F. McRaea10 c1

a1 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.

a2 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.

a3 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.

a4 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.

a5 Washington University School of Medicine, St Louis, United States of America.

a6 Washington University School of Medicine, St Louis, United States of America.

a7 Washington University School of Medicine, St Louis, United States of America.

a8 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.

a9 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia.

a10 Queensland Statistical Genetics, Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Australia. allan.mcrae@qimr.edu.au

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.

(Received February 18 2010)

(Accepted March 06 2010)

Keywords

  • BMI;
  • genetics;
  • height;
  • replication

Correspondence:

c1 Address for correspondence: Allan F. McRae, Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, Brisbane QLD 4029, Australia.

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