Genetic determinants of hair, eye and skin pigmentation in Europeans

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensi...

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Published in:Nature Genetics
Main Authors: Sulem, Patrick, Gudbjartsson, Daniel F, Stacey, Simon N, Helgason, Agnar, Rafnar, Thorunn, Magnusson, Kristinn P, Manolescu, Andrei, Karason, Ari, Palsson, Arnar, Thorleifsson, Gudmar, Jakobsdottir, Margret, Steinberg, Stacy, Pálsson, Snaebjörn, Jonasson, Fridbert, Sigurgeirsson, Bardur, Thorisdottir, Kristin, Ragnarsson, Rafn, Benediktsdottir, Kristrun R, Aben, Katja K, Kiemeney, Lambertus A, Olafsson, Jon H, Gulcher, Jeffrey, Kong, Augie, 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:
Antiporters
European Continental Ancestry Group
Eye Color
Female
Hair Color
Iceland
Male
Membrane Transport Proteins
Monophenol Monooxygenase
Netherlands
Polymorphism
Single Nucleotide
Receptor
Melanocortin
Type 1
Skin Pigmentation
Stem Cell Factor
Online Access:http://hdl.handle.net/2336/15572
https://doi.org/10.1038/ng.2007.13
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Summary:To access publisher full text version of this article. Please click on the hyperlink in Additional Links field Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions--four not previously implicated in the normal variation of human pigmentation--and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.

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