Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

2.50
Hdl Handle:
http://hdl.handle.net/2336/42076
Title:
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
Authors:
Stacey, Simon N; Gudbjartsson, Daniel F; Sulem, Patrick; Bergthorsson, Jon T; Kumar, Rajiv; Thorleifsson, Gudmar; Sigurdsson, Asgeir; Jakobsdottir, Margret; Sigurgeirsson, Bardur; Benediktsdottir, Kristrun R; Thorisdottir, Kristin; Ragnarsson, Rafn; Scherer, Dominique; Rudnai, Peter; Gurzau, Eugene; Koppova, Kvetoslava; Höiom, Veronica; Botella-Estrada, Rafael; Soriano, Virtudes; Juberías, Pablo; Grasa, Matilde; Carapeto, Francisco J; Tabuenca, Pilar; Gilaberte, Yolanda; Gudmundsson, Julius; Thorlacius, Steinunn; Helgason, Agnar; Thorlacius, Theodora; Jonasdottir, Aslaug; Blondal, Thorarinn; Gudjonsson, Sigurjon A; Jonsson, Gudbjörn F; Saemundsdottir, Jona; Kristjansson, Kristleifur; Bjornsdottir, Gyda; Sveinsdottir, Steinunn G; Mouy, Magali; Geller, Frank; Nagore, Eduardo; Mayordomo, José I; Hansson, Johan; Rafnar, Thorunn; Kong, Augustine; Olafsson, Jon H; Thorsteinsdottir, Unnur; Stefansson, Kari
Citation:
Nat. Genet. 2008, 40(11):1313-8
Issue Date:
1-Nov-2008
Abstract:
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 x 10(-12)) and rs801114 on 1q42 (OR = 1.28, P = 5.9 x 10(-12)). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.
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.234

Full metadata record

DC FieldValue Language
dc.contributor.authorStacey, Simon N-
dc.contributor.authorGudbjartsson, Daniel F-
dc.contributor.authorSulem, Patrick-
dc.contributor.authorBergthorsson, Jon T-
dc.contributor.authorKumar, Rajiv-
dc.contributor.authorThorleifsson, Gudmar-
dc.contributor.authorSigurdsson, Asgeir-
dc.contributor.authorJakobsdottir, Margret-
dc.contributor.authorSigurgeirsson, Bardur-
dc.contributor.authorBenediktsdottir, Kristrun R-
dc.contributor.authorThorisdottir, Kristin-
dc.contributor.authorRagnarsson, Rafn-
dc.contributor.authorScherer, Dominique-
dc.contributor.authorRudnai, Peter-
dc.contributor.authorGurzau, Eugene-
dc.contributor.authorKoppova, Kvetoslava-
dc.contributor.authorHöiom, Veronica-
dc.contributor.authorBotella-Estrada, Rafael-
dc.contributor.authorSoriano, Virtudes-
dc.contributor.authorJuberías, Pablo-
dc.contributor.authorGrasa, Matilde-
dc.contributor.authorCarapeto, Francisco J-
dc.contributor.authorTabuenca, Pilar-
dc.contributor.authorGilaberte, Yolanda-
dc.contributor.authorGudmundsson, Julius-
dc.contributor.authorThorlacius, Steinunn-
dc.contributor.authorHelgason, Agnar-
dc.contributor.authorThorlacius, Theodora-
dc.contributor.authorJonasdottir, Aslaug-
dc.contributor.authorBlondal, Thorarinn-
dc.contributor.authorGudjonsson, Sigurjon A-
dc.contributor.authorJonsson, Gudbjörn F-
dc.contributor.authorSaemundsdottir, Jona-
dc.contributor.authorKristjansson, Kristleifur-
dc.contributor.authorBjornsdottir, Gyda-
dc.contributor.authorSveinsdottir, Steinunn G-
dc.contributor.authorMouy, Magali-
dc.contributor.authorGeller, Frank-
dc.contributor.authorNagore, Eduardo-
dc.contributor.authorMayordomo, José I-
dc.contributor.authorHansson, Johan-
dc.contributor.authorRafnar, Thorunn-
dc.contributor.authorKong, Augustine-
dc.contributor.authorOlafsson, Jon H-
dc.contributor.authorThorsteinsdottir, Unnur-
dc.contributor.authorStefansson, Kari-
dc.date.accessioned2008-12-09T10:48:44Z-
dc.date.available2008-12-09T10:48:44Z-
dc.date.issued2008-11-01-
dc.date.submitted2008-12-09-
dc.identifier.citationNat. Genet. 2008, 40(11):1313-8en
dc.identifier.issn1061-4036-
dc.identifier.pmid18849993-
dc.identifier.doi10.1038/ng.234-
dc.identifier.urihttp://hdl.handle.net/2336/42076-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractTo search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide SNP association study of 930 Icelanders with BCC and 33,117 controls. After analyzing 304,083 SNPs, we observed signals from loci at 1p36 and 1q42, and replicated these associations in additional sample sets from Iceland and Eastern Europe. Overall, the most significant signals were from rs7538876 on 1p36 (OR = 1.28, P = 4.4 x 10(-12)) and rs801114 on 1q42 (OR = 1.28, P = 5.9 x 10(-12)). The 1p36 locus contains the candidate genes PADI4, PADI6, RCC2 and ARHGEF10L, and the gene nearest to the 1q42 locus is the ras-homolog RHOU. Neither locus was associated with fair pigmentation traits that are known risk factors for BCC, and no risk was observed for melanoma. Approximately 1.6% of individuals of European ancestry are homozygous for both variants, and their estimated risk of BCC is 2.68 times that of noncarriers.en
dc.language.isoenen
dc.publisherNature Pub. Co.en
dc.relation.urlhttp://dx.doi.org/10.1038/ng.234en
dc.subject.meshPubMed - in processen
dc.titleCommon variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traitsen
dc.typeArticleen
dc.identifier.eissn1546-1718-
dc.contributor.departmentdeCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.en
dc.identifier.journalNature geneticsen

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