2.50
Hdl Handle:
http://hdl.handle.net/2336/15572
Title:
Genetic determinants of hair, eye and skin pigmentation in Europeans
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
Citation:
Nat Genet. 2007, 39 (12):1443-52
Issue Date:
1-Dec-2007
Abstract:
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.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://dx.doi.org/10.1038/ng.2007.13

Full metadata record

DC FieldValue Language
dc.contributor.authorSulem, Patrick-
dc.contributor.authorGudbjartsson, Daniel F-
dc.contributor.authorStacey, Simon N-
dc.contributor.authorHelgason, Agnar-
dc.contributor.authorRafnar, Thorunn-
dc.contributor.authorMagnusson, Kristinn P-
dc.contributor.authorManolescu, Andrei-
dc.contributor.authorKarason, Ari-
dc.contributor.authorPalsson, Arnar-
dc.contributor.authorThorleifsson, Gudmar-
dc.contributor.authorJakobsdottir, Margret-
dc.contributor.authorSteinberg, Stacy-
dc.contributor.authorPálsson, Snaebjörn-
dc.contributor.authorJonasson, Fridbert-
dc.contributor.authorSigurgeirsson, Bardur-
dc.contributor.authorThorisdottir, Kristin-
dc.contributor.authorRagnarsson, Rafn-
dc.contributor.authorBenediktsdottir, Kristrun R-
dc.contributor.authorAben, Katja K-
dc.contributor.authorKiemeney, Lambertus A-
dc.contributor.authorOlafsson, Jon H-
dc.contributor.authorGulcher, Jeffrey-
dc.contributor.authorKong, Augie-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2008-01-02T09:32:29Z-
dc.date.available2008-01-02T09:32:29Z-
dc.date.issued2007-12-01-
dc.date.submitted2008-01-02-
dc.identifier.citationNat Genet. 2007, 39 (12):1443-52en
dc.identifier.issn1061-4036-
dc.identifier.pmid17952075-
dc.identifier.doi10.1038/ng.2007.13-
dc.identifier.urihttp://hdl.handle.net/2336/15572-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractHair, 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.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.2007.13en
dc.subject.meshAntiportersen
dc.subject.meshEuropean Continental Ancestry Groupen
dc.subject.meshEye Coloren
dc.subject.meshFemaleen
dc.subject.meshHair Coloren
dc.subject.meshIcelanden
dc.subject.meshMaleen
dc.subject.meshMembrane Transport Proteinsen
dc.subject.meshMonophenol Monooxygenaseen
dc.subject.meshNetherlandsen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshReceptor, Melanocortin, Type 1en
dc.subject.meshSkin Pigmentationen
dc.subject.meshStem Cell Factoren
dc.titleGenetic determinants of hair, eye and skin pigmentation in Europeansen
dc.typeArticleen
dc.identifier.eissn1546-1718-
dc.contributor.departmentdeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.en
dc.identifier.journalNature geneticsen

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