A genomewide association study of skin pigmentation in a South Asian population

作者：Stokowski Renee P^*; Pant P V Krishna; Dadd Tony; Fereday Amelia; Hinds David A; Jarman Carl; Filsell Wendy; Ginger Rebecca S; Green Martin R; van der Ouderaa Frans J; Cox David R

来源：American Journal of Human Genetics, 2007, 81(6): 1119-1132.

DOI：10.1086/522235

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.

• 出版日期2007-12