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Nature Research, Nature Genetics, 7(40), p. 835-837, 2008

DOI: 10.1038/ng.160

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Two newly identified genetic determinants of pigmentation in Europeans

Journal article published in 2008 by Patrick Sulem, Sita H. Vermeulen, H. H. M. Vermeulen, Daniel F. Gudbjartsson ORCID, Simon N. Stacey, Agnar Helgason, Thorunn Rafnar, Margret Jakobsdottir, Stacy Steinberg, Sigurjon A. Gudjonsson ORCID, Arnar Palsson, Gudmar Thorleifsson, Snæbjörn Pálsson, Bardur Sigurgeirsson ORCID, Kristin Thorisdottir and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.