Two newly identified genetic determinants of pigmentation in Europeans.

• Published in: Nature Genetics
• Main 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
• Other Authors: deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Pub. Co. 2008
• Subjects: Agouti Signaling Protein; Calcium Channels; Eye Color; Gene Frequency; Genetics; Population; Hair; Haplotypes; Humans; Iceland; Linkage (Genetics); Melanosis; Netherlands; Odds Ratio; Pigmentation; Polymorphism; Single Nucleotide; Solar System
• Online Access: http://hdl.handle.net/2336/33713; https://doi.org/10.1038/ng.160

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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.