| Literature DB >> 19578363 |
Simon N Stacey1, Patrick Sulem, Gisli Masson, Sigurjon A Gudjonsson, Gudmar Thorleifsson, Margret Jakobsdottir, Asgeir Sigurdsson, Daniel F Gudbjartsson, Bardur Sigurgeirsson, Kristrun R Benediktsdottir, Kristin Thorisdottir, Rafn Ragnarsson, Dominique Scherer, Kari Hemminki, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Rafael Botella-Estrada, Virtudes Soriano, Pablo Juberias, Berta Saez, Yolanda Gilaberte, Victoria Fuentelsaz, Cristina Corredera, Matilde Grasa, Veronica Höiom, Annika Lindblom, Johannes J Bonenkamp, Michelle M van Rossum, Katja K H Aben, Esther de Vries, Mario Santinami, Maria G Di Mauro, Andrea Maurichi, Judith Wendt, Pia Hochleitner, Hubert Pehamberger, Julius Gudmundsson, Droplaug N Magnusdottir, Solveig Gretarsdottir, Hilma Holm, Valgerdur Steinthorsdottir, Michael L Frigge, Thorarinn Blondal, Jona Saemundsdottir, Hjördis Bjarnason, Kristleifur Kristjansson, Gyda Bjornsdottir, Ichiro Okamoto, Licia Rivoltini, Monica Rodolfo, Lambertus A Kiemeney, Johan Hansson, Eduardo Nagore, José I Mayordomo, Rajiv Kumar, Margaret R Karagas, Heather H Nelson, Jeffrey R Gulcher, Thorunn Rafnar, Unnur Thorsteinsdottir, Jon H Olafsson, Augustine Kong, Kari Stefansson.
Abstract
In a follow-up to our previously reported genome-wide association study of cutaneous basal cell carcinoma (BCC), we describe here several new susceptibility variants. SNP rs11170164, encoding a G138E substitution in the keratin 5 (KRT5) gene, affects risk of BCC (OR = 1.35, P = 2.1 x 10(-9)). A variant at 9p21 near CDKN2A and CDKN2B also confers susceptibility to BCC (rs2151280[C]; OR = 1.19, P = 6.9 x 10(-9)), as does rs157935[T] at 7q32 near the imprinted gene KLF14 (OR = 1.23, P = 5.7 x 10(-10)). The effect of rs157935[T] is dependent on the parental origin of the risk allele. None of these variants were found to be associated with melanoma or fair-pigmentation traits. A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma.Entities:
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Year: 2009 PMID： 19578363 PMCID： PMC2973331 DOI： 10.1038/ng.412
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330