2.50
Hdl Handle:
http://hdl.handle.net/2336/33713
Title:
Two newly identified genetic determinants of pigmentation in Europeans.
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
Citation:
Nat. Genet. 2008, 40(7):835-7
Issue Date:
1-Jul-2008
Abstract:
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:
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.160

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.authorJakobsdottir, Margret-
dc.contributor.authorSteinberg, Stacy-
dc.contributor.authorGudjonsson, Sigurjon A-
dc.contributor.authorPalsson, Arnar-
dc.contributor.authorThorleifsson, Gudmar-
dc.contributor.authorPálsson, Snaebjörn-
dc.contributor.authorSigurgeirsson, Bardur-
dc.contributor.authorThorisdottir, Kristin-
dc.contributor.authorRagnarsson, Rafn-
dc.contributor.authorBenediktsdottir, Kristrun R-
dc.contributor.authorAben, Katja K-
dc.contributor.authorVermeulen, Sita H-
dc.contributor.authorGoldstein, Alisa M-
dc.contributor.authorTucker, Margaret A-
dc.contributor.authorKiemeney, Lambertus A-
dc.contributor.authorOlafsson, Jon H-
dc.contributor.authorGulcher, Jeffrey-
dc.contributor.authorKong, Augustine-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2008-07-31T09:52:05Z-
dc.date.available2008-07-31T09:52:05Z-
dc.date.issued2008-07-01-
dc.date.submitted2008-07-31-
dc.identifier.citationNat. Genet. 2008, 40(7):835-7en
dc.identifier.issn1546-1718-
dc.identifier.pmid18488028-
dc.identifier.doi10.1038/ng.160-
dc.identifier.urihttp://hdl.handle.net/2336/33713-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractWe 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.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.160en
dc.subject.meshAgouti Signaling Proteinen
dc.subject.meshCalcium Channelsen
dc.subject.meshEye Coloren
dc.subject.meshGene Frequencyen
dc.subject.meshGenetics, Populationen
dc.subject.meshHairen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshLinkage (Genetics)en
dc.subject.meshMelanosisen
dc.subject.meshNetherlandsen
dc.subject.meshOdds Ratioen
dc.subject.meshPigmentationen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshSolar Systemen
dc.titleTwo newly identified genetic determinants of pigmentation in Europeans.en
dc.typeArticleen
dc.contributor.departmentdeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.en
dc.identifier.journalNature geneticsen

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