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

Xifeng Wu, Ghislaine Scelo, Mark P. Purdue, Nathaniel Rothman, Mattias Johansson, Yuanqing Ye, Zhaoming Wang, Diana Zelenika, Lee E. Moore, Christopher G. Wood, Egor Prokhortchouk, Valerie Gaborieau, Kevin B. Jacobs, Wong Ho Chow, Jorge R. Toro, David Zaridze, Jie Lin, Jan Lubinski, Joanna Trubicka, Neonilia Szeszenia-dabrowskaJolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Viorel Jinga, Vladimir Bencko, Alena Slamova, Ivana Holcatova, Marie Navratilova, Vladimir Janout, Paolo Boffetta, Joanne S. Colt, Faith G. Davis, Kendra L. Schwartz, Rosamonde E. Banks, Peter J. Selby, Patricia Harnden, Christine D. Berg, Ann W. Hsing, III L. Grubb Robert L., Heiner Boeing, Paolo Vineis, Françoise Clavel-chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Eric J. Duell, José Ramón Quirós, Maria José Sanchez, Carmen Navarro, Eva Ardanaz, Miren Dorronsoro, Kay Tee Khaw, Naomi E. Allen, H. Bas Bueno-de-mesquita, Petra H.M. Peeters, Dimitrios Trichopoulos, Jakob Linseisen, Börje Ljungberg, Kim Overvad, Anne Tjonneland, Isabelle Romieu, Elio Riboli, Victoria L. Stevens, Michael J. Thun, W. Ryan Diver, Susan M. Gapstur, Paul D. Pharoah, Douglas F. Easton, Demetrius Albanes, Jarmo Virtamo, Lars Vatten, Kristian Hveem, Tony Fletcher, Kvetoslava Koppova, Olivier Cussenot, Geraldine Cancel-tassin, Simone Benhamou, Michelle A. Hildebrandt, Xia Pu, Mario Foglio, Doris Lechner, Amy Hutchinson, Meredith Yeager, Joseph F. Fraumeni, Mark Lathrop, Konstantin G. Skryabin, James D. McKay, Jian Gu, Paul Brennan, Stephen J. Chanock

Research output: Contribution to journalArticlepeer-review

72 Scopus citations


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 (r2 = 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.

Original languageEnglish (US)
Article numberddr479
Pages (from-to)456-462
Number of pages7
JournalHuman molecular genetics
Issue number2
StatePublished - Jan 2012
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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