TPCN2 and ASIP and hair/skin color

Nature Genetics, Published online: 18 May 2008 | doi:10.1038/ng.160

Two newly identified genetic determinants of pigmentation in Europeans

Patrick Sulem et al.

We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations in MC1R.

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