Journal
HUMAN MOLECULAR GENETICS
Volume 21, Issue 2, Pages 456-462Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddr479
Keywords
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Funding
- US National Institutes of Health (NIH) [R01CA 98897]
- MD Anderson Research Trust
- French Institut National du Cancer (INCa)
- National Cancer Institute (NCI), NIH
- Cancer Research UK [10118, 11022] Funding Source: researchfish
- Cancer Research UK
- The Francis Crick Institute [10124, 10119] Funding Source: researchfish
- Medical Research Council [G0401527, G0801056B, G1000143] Funding Source: researchfish
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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 x 10(-10) and P = 6.07 x 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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