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Two newly identified genetic determinants of pigmentation in Europeans |
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| Authors: | Sulem Patrick Gudbjartsson Daniel F Stacey Simon N Helgason Agnar Rafnar Thorunn Jakobsdottir Margret Steinberg Stacy Gudjonsson Sigurjon A Palsson Arnar Thorleifsson Gudmar Pálsson Snaebjörn 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 Stefansson Kari |
| Institution: | deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. |
| 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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