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Gudbjartsson, Daniel F; Stefansson, Kari; Sulem, Patrick; Stacey, Simon N; Helgason, Agnar; Rafnar, Thorunn; Jakobsdottir, Margret; Steinberg, Stacy; Gudjonsson, Sigurjon A; Palsson, Arnar; Thorleifsson, Gudmar; Pálsson, Snæbjörn; Sigurgeirsson, Bardur; Thorisdottir, Kristin; Ragnarsson, Rafn; Benediktsdottir, Kristrun R; Aben, Katja K; Vermeulen, Sita H; Goldstein, Alisa M; Tucker, Margaret A; Kiemeney, Lambertus A; Olafsson, Jon H; Gulcher, Jeffrey; Kong, Augustine; Thorsteinsdottir, Unnur
Nature genetics, 07/2008, Letnik: 40, Številka: 7Journal Article
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.
