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. 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

Jimmy Z Liu  1 , 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
Affiliations

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

Jimmy Z Liu et al. Twin Res Hum Genet. 2010 Apr.

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 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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Figures

Figure 1
Figure 1
Scatter plot of height against age in 38,418 individuals. Separate GWA analyses were performed for those under and over 18 years of age (indicated by the vertical line).
Figure 2
Figure 2
Quantile-quantile plot of χ2 (1df) test statistics for 559,655 SNPs from the GWA analysis of (a) height in adolescents, genomic inflation λ = 1.016; (b) adults, λ = 1.004; and (c) combined, λ = 1.019. The 95% confidence interval of the expected χ2 statistics under the null hypothesis of no association are indicated by the shaded regions.
Figure 3
Figure 3
Quantile-quantile plot of χ2 (1df) test statistics for 559,655 SNPs from the GWA analysis of (a) BMI in adolescents, genomic inflation λ = 1.021; (b) adults, λ = 1.063; and (c) combined, λ = 1.061. The 95% confidence interval of the expected χ2 statistics under the null hypothesis of no association are indicated by the shaded regions.
Figure 4
Figure 4
Manhattan plot of 559,655 SNPs from the combined GWA analyses of (a) height and (b) BMI. Horizontal lines represent p-values of p = 10-10, 10-8 and 10-6.
Figure 5
Figure 5
Statistical Power of this study to detect the (a) 26 height-associated SNPs identified in Gudbjartsson et al. (2008) and (b) 11 BMI-associated SNPs indentified in Thorleifsson et al. (2009) at genome wide significance (p < 10-7, circles) and nominal significance (p < 10-3, triangles)
See this image and copyright information in PMC

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