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Abstract

Title: Two newly identified genetic determinants of pigmentation in Europeans.
Author: Sulem P,Gudbjartsson DF,Stacey SN,Helgason A,Rafnar T,Jakobsdottir M,Steinberg S,Gudjonsson SA,Palsson A,Thorleifsson G,Pálsson S,Sigurgeirsson B,Thorisdottir K,Ragnarsson R,Benediktsdottir KR,Aben KK,Vermeulen SH,Goldstein AM,Tucker MA,Kiemeney LA,Olafsson JH,Gulcher J,Kong A,Thorsteinsdottir U,Stefansson K
Journal: Nature genetics 40(7):835-7
Year: 2008
Month: July

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.