| Literature DB >> 18849993 |
Simon N Stacey1, Daniel F Gudbjartsson, Patrick Sulem, Jon T Bergthorsson, Rajiv Kumar, Gudmar Thorleifsson, Asgeir Sigurdsson, Margret Jakobsdottir, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Veronica Höiom, Rafael Botella-Estrada, Virtudes Soriano, Pablo Juberías, Matilde Grasa, Francisco J Carapeto, Pilar Tabuenca, Yolanda Gilaberte, Julius Gudmundsson, Steinunn Thorlacius, Agnar Helgason, Theodora Thorlacius, Aslaug Jonasdottir, Thorarinn Blondal, Sigurjon A Gudjonsson, Gudbjörn F Jonsson, Jona Saemundsdottir, Kristleifur Kristjansson, Gyda Bjornsdottir, Steinunn G Sveinsdottir, Magali Mouy, Frank Geller, Eduardo Nagore, José I Mayordomo, Johan Hansson, Thorunn Rafnar, Augustine Kong, Jon H Olafsson, Unnur Thorsteinsdottir, Kari Stefansson.
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.Entities:
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Year: 2008 PMID： 18849993 DOI： 10.1038/ng.234
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330