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

Two newly identified genetic determinants of pigmentation in Europeans

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

Two newly identified genetic determinants of pigmentation in Europeans

Patrick Sulem et al. Nat Genet. 2008 Jul.

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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Comment in

  • Shedding light on skin cancer.
    Pharoah PD. Pharoah PD. Nat Genet. 2008 Jul;40(7):817-8. doi: 10.1038/ng0708-817. Nat Genet. 2008. PMID: 18583973 No abstract available.

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