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Sizing up human height variation

Nature Genetics volume 40, pages 489–490 (2008)Cite this article

Genome-wide association studies have identified many variants affecting susceptibility to disease. Now, three studies use this approach to study adult height variation in a combined sample size of ∼63,000 individuals and report a total of 54 validated variants influencing this trait.

Human height is a classical quantitative trait. Genetic studies, pioneered by Francis Galton and Ronald Fisher more than 90 years ago1,2, show a clear pattern of family resemblance, consistent with a polygenic additive model of inheritance. But how many is 'poly', and what are the effect sizes of individual variants? In this issue, three consortia of research groups report a total of 54 loci affecting height variation in the population, identified using genome-wide association studies of hundreds of thousands of genetic markers genotyped on a total of ∼63,000 people measured for height3,4,5.

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Figure 1: Statistical power of detection in GWAS for variants that explain 0.1–0.5% of the variation at a type I error rate of 5 × 10−7 (calculated using the Genetic Power Calculator15).

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  1. Peter M. Visscher is at the Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia. peter.visscher@qimr.edu.au,

    Peter M Visscher

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  1. Peter M Visscher
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Visscher, P. Sizing up human height variation. Nat Genet 40, 489–490 (2008). https://doi.org/10.1038/ng0508-489

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