Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

Mark P. Purdue, Mattias Johansson, Diana Zelenika, Jorge R. Toro, Ghislaine Scelo, Lee E. Moore, Egor Prokhortchouk, Xifeng Wu, Lambertus A. Kiemeney, Valerie Gaborieau, Kevin B. Jacobs, Wong Ho Chow, David Zaridze, Vsevolod Matveev, Jan Lubinski, Joanna Trubicka, Neonila Szeszenia-Dabrowska, Jolanta Lissowska, Péter Rudnai, Eleonora FabianovaAlexandru Bucur, Vladimir Bencko, Lenka Foretova, 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, Robert L. Grubb, Heiner Boeing, Paolo Vineis, Franc̃oise Clavel-Chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Eric J. Duell, José Ramón Quiós, 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 Tjønneland, Isabelle Romieu, Elio Riboli, Anush Mukeria, Oxana Shangina, Victoria L. Stevens, Michael J. Thun, W. Ryan Diver, Susan M. Gapstur, Paul D. Pharoah, Douglas F. Easton, Demetrius Albanes, Stephanie J. Weinstein, Jarmo Virtamo, Lars Vatten, Kristian Hveem, Inger Njølstad, Grethe S. Tell, Camilla Stoltenberg, Rajiv Kumar, Kvetoslava Koppova, Olivier Cussenot, Simone Benhamou, Egbert Oosterwijk, Sita H. Vermeulen, Katja K.H. Aben, Saskia L. Van Der Marel, Yuanqing Ye, Christopher G. Wood, Xia Pu, Alexander M. Mazur, Eugenia S. Boulygina, Nikolai N. Chekanov, Mario Foglio, Doris Lechner, Ivo Gut, Simon Heath, Hélène Blanche, Amy Hutchinson, Gilles Thomas, Zhaoming Wang, Meredith Yeager, Joseph F. Fraumeni, Konstantin G. Skryabin, James D. McKay, Nathaniel Rothman, Stephen J. Chanock, Mark Lathrop, Paul Brennan

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210 Citations (Scopus)


We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r 2 = 0.99 in controls), rs11894252 (P = 1.8 ×- 10-8) and rs7579899 (P = 2.3 ×- 10-9), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 ×- 10-14). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 ×- 10 -8). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.

Original languageEnglish
Pages (from-to)60-65
Number of pages6
JournalNature Genetics
Issue number1
Publication statusPublished - Jan 2011
Externally publishedYes

Bibliographical note

Funding Information:
The authors thank all of the participants who took part in this research and the funders and support staff who made this study possible. Funding for the genome-wide genotyping was provided by the French Institut National du Cancer (INCa) for those studies coordinated by IARC/CNG, and by the intramural research program of the National Cancer Institute (NCI), US National Institutes of Health (NIH) for those studies coordinated by the NCI. Additional acknowledgments can be found in the Supplementary Note.


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