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Nat Genet. 2008 Jul;40(7):817-8.
Two newly identified genetic determinants of pigmentation in Europeans.
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.
deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
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.
PMID: 18488028 [PubMed - indexed for MEDLINE]