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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.
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
html.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.


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