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A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.

Hum. Mol. Genet. 21, 456-462 (2012)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome-wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D ' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 × 10(-10) and P = 6.07 × 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Postmenopausal women; Kidney cancer; Risk-factors; Body-size; Epidemiology; Metaanalysis; Type-2
ISSN (print) / ISBN 0964-6906
e-ISSN 1460-2083
Journal Human Molecular Genetics
Quellenangaben Volume: 21, Issue: 2, Pages: 456-462 Article Number: , Supplement: ,
Publisher Oxford University Press
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)