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- Title
The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma.
- Authors
Han, Summer S; Yeager, Meredith; Moore, Lee E; Wei, Ming-Hui; Pfeiffer, Ruth; Toure, Ousmane; Purdue, Mark P; Johansson, Mattias; Scelo, Ghislaine; Chung, Charles C; Gaborieau, Valerie; Zaridze, David; Schwartz, Kendra; Szeszenia-Dabrowska, Neonilia; Davis, Faith; Bencko, Vladimir; Colt, Joanne S; Janout, Vladimir; Matveev, Vsevolod; Foretova, Lenka; Mates, Dana; Navratilova, M; Boffetta, Paolo; Berg, Christine D; Grubb, Robert L, 3rd; Stevens, Victoria L; Thun, Michael J; Diver, W Ryan; Gapstur, Susan M; Albanes, Demetrius; Weinstein, Stephanie J; Virtamo, Jarmo; Burdett, Laurie; Brisuda, Antonin; McKay, James D; Fraumeni, Joseph F, Jr; Chatterjee, Nilanjan; Rosenberg, Philip S; Rothman, Nathaniel; Brennan, Paul; Chow, Wong-Ho; Tucker, Margaret A; Chanock, Stephen J; Toro, Jorge R
- Abstract
In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P = 5.75 × 10(-8), per-allele odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.17-1.39]. Imputation of common SNPs surrounding rs9679290 using HapMap 3 and 1000 Genomes data yielded two additional signals, rs4953346 (P = 4.09 × 10(-14)) and rs12617313 (P = 7.48 × 10(-12)), both highly correlated with rs9679290 (r(2) > 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r(2) < 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10(-9), per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants.
- Publication
Human molecular genetics, 2012, Vol 21, Issue 5, p1190
- ISSN
1460-2083
- Publication type
Journal Article
- DOI
10.1093/hmg/ddr551