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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This research was supported in part by the Intramural Research Program of the US National Institutes of Health National Cancer Institute.
The authors from deCODE own stock and stock options in the company.
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Sulem, P., Gudbjartsson, D., Stacey, S. et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 40, 835–837 (2008). https://doi.org/10.1038/ng.160
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