Two newly identified genetic determinants of pigmentation in Europeans.
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Authors
Sulem, PatrickGudbjartsson, 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
Issue Date
2008-07-01
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Nat. Genet. 2008, 40(7):835-7Abstract
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.Description
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http://dx.doi.org/10.1038/ng.160ae974a485f413a2113503eed53cd6c53
10.1038/ng.160
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