Two newly identified genetic determinants of pigmentation in Europeans

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

Patrick Sulem ¹, Daniel F Gudbjartsson, Simon N Stacey, Agnar Helgason, Thorunn Rafnar, Margret Jakobsdottir, Stacy Steinberg, Sigurjon A Gudjonsson, Arnar Palsson, Gudmar Thorleifsson, Snaebjörn Pálsson, Bardur Sigurgeirsson, Kristin Thorisdottir, Rafn Ragnarsson, Kristrun R Benediktsdottir, Katja K Aben, Sita H Vermeulen, Alisa M Goldstein, Margaret A Tucker, Lambertus A Kiemeney, Jon H Olafsson, Jeffrey Gulcher, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson

Affiliations

Affiliation

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

PMID: 18488028 DOI: 10.1038/ng.160

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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