Details

Autor(en) / Beteiligte

• 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
• 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
• Chatterjee, Nilanjan
• Rosenberg, Philip S
• Rothman, Nathaniel
• Brennan, Paul
• Chow, Wong-Ho
• Tucker, Margaret A
• Chanock, Stephen J
• Toro, Jorge R

Titel

The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma

Ist Teil von

• Human molecular genetics, 2012-03, Vol.21 (5), p.1190-1200

Ort / Verlag

Oxford: Oxford University Press

Erscheinungsjahr

2012

Link zum Volltext

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• 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.