ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma

2.50
Hdl Handle:
http://hdl.handle.net/2336/33712
Title:
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
Authors:
Gudbjartsson, Daniel F; Sulem, Patrick; Stacey, Simon N; Goldstein, Alisa M; Rafnar, Thorunn; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R; Thorisdottir, Kristin; Ragnarsson, Rafn; Sveinsdottir, Steinunn G; Magnusson, Veronica; Lindblom, Annika; Kostulas, Konstantinos; Botella-Estrada, Rafael; Soriano, Virtudes; Juberías, Pablo; Grasa, Matilde; Saez, Berta; Andres, Raquel; Scherer, Dominique; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Kiemeney, Lambertus A; Jakobsdottir, Margret; Steinberg, Stacy; Helgason, Agnar; Gretarsdottir, Solveig; Tucker, Margaret A; Mayordomo, José I; Nagore, Eduardo; Kumar, Rajiv; Hansson, Johan; Olafsson, Jon H; Gulcher, Jeffrey; Kong, Augustine; Thorsteinsdottir, Unnur; Stefansson, Kari
Citation:
Nat. Genet. 2008, 40(7):886-91
Issue Date:
1-Jul-2008
Abstract:
Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation.
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.161

Full metadata record

DC FieldValue Language
dc.contributor.authorGudbjartsson, Daniel F-
dc.contributor.authorSulem, Patrick-
dc.contributor.authorStacey, Simon N-
dc.contributor.authorGoldstein, Alisa M-
dc.contributor.authorRafnar, Thorunn-
dc.contributor.authorSigurgeirsson, Bardur-
dc.contributor.authorBenediktsdottir, Kristrun R-
dc.contributor.authorThorisdottir, Kristin-
dc.contributor.authorRagnarsson, Rafn-
dc.contributor.authorSveinsdottir, Steinunn G-
dc.contributor.authorMagnusson, Veronica-
dc.contributor.authorLindblom, Annika-
dc.contributor.authorKostulas, Konstantinos-
dc.contributor.authorBotella-Estrada, Rafael-
dc.contributor.authorSoriano, Virtudes-
dc.contributor.authorJuberías, Pablo-
dc.contributor.authorGrasa, Matilde-
dc.contributor.authorSaez, Berta-
dc.contributor.authorAndres, Raquel-
dc.contributor.authorScherer, Dominique-
dc.contributor.authorRudnai, Peter-
dc.contributor.authorGurzau, Eugene-
dc.contributor.authorKoppova, Kvetoslava-
dc.contributor.authorKiemeney, Lambertus A-
dc.contributor.authorJakobsdottir, Margret-
dc.contributor.authorSteinberg, Stacy-
dc.contributor.authorHelgason, Agnar-
dc.contributor.authorGretarsdottir, Solveig-
dc.contributor.authorTucker, Margaret A-
dc.contributor.authorMayordomo, José I-
dc.contributor.authorNagore, Eduardo-
dc.contributor.authorKumar, Rajiv-
dc.contributor.authorHansson, Johan-
dc.contributor.authorOlafsson, Jon H-
dc.contributor.authorGulcher, Jeffrey-
dc.contributor.authorKong, Augustine-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2008-07-31T09:30:09Z-
dc.date.available2008-07-31T09:30:09Z-
dc.date.issued2008-07-01-
dc.date.submitted2008-07-31-
dc.identifier.citationNat. Genet. 2008, 40(7):886-91en
dc.identifier.issn1546-1718-
dc.identifier.pmid18488027-
dc.identifier.doi10.1038/ng.161-
dc.identifier.urihttp://hdl.handle.net/2336/33712-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractFair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.161en
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAgeden
dc.subject.meshAged, 80 and overen
dc.subject.meshAgouti Signaling Proteinen
dc.subject.meshCarcinoma, Basal Cellen
dc.subject.meshCase-Control Studiesen
dc.subject.meshEuropeen
dc.subject.meshEye Coloren
dc.subject.meshGene Frequencyen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHumansen
dc.subject.meshMelanomaen
dc.subject.meshMembrane Glycoproteinsen
dc.subject.meshMiddle Ageden
dc.subject.meshMonophenol Monooxygenaseen
dc.subject.meshNeoplasm Metastasisen
dc.subject.meshOdds Ratioen
dc.subject.meshOxidoreductasesen
dc.subject.meshPigmentationen
dc.subject.meshPolymorphism, Single Nucleotideen
dc.subject.meshReceptor, Melanocortin, Type 1en
dc.subject.meshRegistriesen
dc.subject.meshSkin Neoplasmsen
dc.titleASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinomaen
dc.typeArticleen
dc.contributor.departmentdeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. daniel.gudbjartsson@decode.isen
dc.identifier.journalNature geneticsen

Related articles on PubMed

All Items in Hirsla are protected by copyright, with all rights reserved, unless otherwise indicated.