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

Journal article published in 2011 by Xifeng Wu, Ghislaine Scelo, Purdue Mp, Mark P. Purdue, Nathaniel Rothman, Mattias Johansson, Yuanqing Ye, Zhaoming Wang, Moore Le, Diana Zelenika, Le E. Moore, Wood Cg, Cg G. Wood, Egor Prokhortchouk, Valerie Gaborieau and other authors.
This paper is available in a repository.
This paper is available in a repository.

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Abstract

Wu, Xifeng Scelo, Ghislaine Purdue, Mark P Rothman, Nathaniel Johansson, Mattias Ye, Yuanqing Wang, Zhaoming Zelenika, Diana Moore, Lee E Wood, Christopher G Prokhortchouk, Egor Gaborieau, Valerie Jacobs, Kevin B Chow, Wong-Ho Toro, Jorge R Zaridze, David Lin, Jie Lubinski, Jan Trubicka, Joanna Szeszenia-Dabrowska, Neonilia Lissowska, Jolanta Rudnai, Peter Fabianova, Eleonora Mates, Dana Jinga, Viorel Bencko, Vladimir Slamova, Alena Holcatova, Ivana Navratilova, Marie Janout, Vladimir Boffetta, Paolo Colt, Joanne S Davis, Faith G Schwartz, Kendra L Banks, Rosamonde E Selby, Peter J Harnden, Patricia Berg, Christine D Hsing, Ann W Grubb, Robert L 3rd Boeing, Heiner Vineis, Paolo Clavel-Chapelon, Francoise Palli, Domenico Tumino, Rosario Krogh, Vittorio Panico, Salvatore Duell, Eric J Quiros, Jose Ramon Sanchez, Maria-Jose Navarro, Carmen Ardanaz, Eva Dorronsoro, Miren Khaw, Kay-Tee Allen, Naomi E Bueno-de-Mesquita, H Bas Peeters, Petra H M Trichopoulos, Dimitrios Linseisen, Jakob Ljungberg, Borje Overvad, Kim Tjonneland, Anne Romieu, Isabelle Riboli, Elio Stevens, Victoria L Thun, Michael J Diver, W Ryan Gapstur, Susan M Pharoah, Paul D Easton, Douglas F Albanes, Demetrius Virtamo, Jarmo Vatten, Lars Hveem, Kristian Fletcher, Tony Koppova, Kvetoslava Cussenot, Olivier Cancel-Tassin, Geraldine Benhamou, Simone Hildebrandt, Michelle A Pu, Xia Foglio, Mario Lechner, Doris Hutchinson, Amy Yeager, Meredith Fraumeni, Joseph F Jr Lathrop, Mark Skryabin, Konstantin G McKay, James D Gu, Jian Brennan, Paul Chanock, Stephen J eng A10119/Cancer Research UK/United Kingdom A10124/Cancer Research UK/United Kingdom G0401527/Medical Research Council/United Kingdom G1000143/Medical Research Council/United Kingdom R01CA 98897/CA/NCI NIH HHS/ Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't England 2011/10/20 06:00 Hum Mol Genet. 2012 Jan 15;21(2):456-62. doi: 10.1093/hmg/ddr479. Epub 2011 Oct 18. ; International audience ; 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.