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Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160. Epub 2008 May 18.

Two newly identified genetic determinants of pigmentation in Europeans.

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1
deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.

Abstract

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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PMID:
18488028
DOI:
10.1038/ng.160
[Indexed for MEDLINE]

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