Two newly identified genetic determinants of pigmentation in Europeans

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 A...

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Veröffentlicht in:	Nature genetics 2008-07, Vol.40 (7), p.835-837
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Agouti Signaling Protein - genetics Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine brief-communication Calcium Channels - genetics Cancer Research Color Eye Color - genetics Fundamental and applied biological sciences. Psychology Gene Frequency Gene Function Genes Genetic aspects Genetic Linkage Genetic variation Genetics Genetics of eukaryotes. Biological and molecular evolution Genetics, Population Hair Hair - physiology Haplotypes Human Genetics Humans Iceland Identification and classification Melanosis - genetics Netherlands Odds Ratio Physiological aspects Pigmentation Pigmentation - genetics Polymorphism, Single Nucleotide Proteins Sample size Skin Skin color Solar System
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Beschreibung
Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng.160