Several new genetic associations for human hair, eye and skin pigmentation in individuals of European ancestry are reported online in Nature Genetics. Kari Stefansson and colleagues have conducted a genome-wide association study (GWAS) to identify genetic variation associated with human hair and eye pigmentation, as well as skin sensitivity to sun and freckling. The study included 2,986 Icelandic individuals in the initial genome-wide scan, followed by replication of significantly associated genetic loci in a second sample of 2,718 Icelandic and 1,214 Dutch individuals.
The authors identified 6 genetic loci associated with at least one of these pigmentation phenotypes, 4 of which have not been previously associated with pigmentation. The pigmentation characteristics of study participants were defined by self-assessment, and it is possible that more quantitative measures would identify further genetic associations. Most of the pigmentation variants identified in this study have, in previous studies, shown signals of positive selection in European populations.
Kari Stefansson (deCODE Genetics, Reykjavik, Iceland)
Daniel F. Gudbjartsson (deCODE Genetics, Reykjavik, Iceland)
Abstract available online.
(C) Nature Genetics press release.
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