A genomewide association study of skin pigmentation in a South Asian population.
Article Details
- CitationCopy to clipboard
Stokowski RP, Pant PV, Dadd T, Fereday A, Hinds DA, Jarman C, Filsell W, Ginger RS, Green MR, van der Ouderaa FJ, Cox DR
A genomewide association study of skin pigmentation in a South Asian population.
Am J Hum Genet. 2007 Dec;81(6):1119-32. Epub 2007 Oct 15.
- PubMed ID
- 17999355 [ View in PubMed]
- Abstract
We have conducted a multistage genomewide association study, using 1,620,742 single-nucleotide polymorphisms to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent. Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of melanin content in the skin. The associations detected in these three genes, in an additive manner, collectively account for a large fraction of the natural variation of skin pigmentation in a South Asian population. Our study is the first to interrogate polymorphisms across the genome, to find genetic determinants of the natural variation of skin pigmentation within a human population.