4.8 Article

Two newly identified genetic determinants of pigmentation in Europeans

Journal

NATURE GENETICS
Volume 40, Issue 7, Pages 835-837

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/ng.160

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Funding

  1. Intramural NIH HHS Funding Source: Medline

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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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