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Title: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
Authors: Purdue MP,  Johansson M,  Zelenika D,  Toro JR,  Scelo G,  Moore LE,  Prokhortchouk E,  Wu X,  Kiemeney LA,  Gaborieau V,  Jacobs KB,  Chow WH,  Zaridze D,  Matveev V,  Lubinski J,  Trubicka J,  Szeszenia-Dabrowska N,  Lissowska J,  Rudnai P,  Fabianova E,  Bucur A,  Bencko V,  Foretova L,  Janout V,  Boffetta P,  Colt JS,  Davis FG,  Schwartz KL,  Banks RE,  Selby PJ,  Harnden P,  Berg CD,  Hsing AW,  Grubb RL 3rd,  Boeing H,  Vineis P,  Clavel-Chapelon F,  Palli D,  Tumino R,  Krogh V,  Panico S,  Duell EJ,  Quirós JR,  Sanchez MJ,  Navarro C,  Ardanaz E,  Dorronsoro M,  Khaw KT,  Allen NE,  Bueno-de-Mesquita HB,  Peeters PH,  Trichopoulos D,  Linseisen J,  Ljungberg B,  Overvad K,  Tjønneland A,  Romieu I,  Riboli E,  Mukeria A,  Shangina O,  Stevens VL,  Thun MJ,  Diver WR,  Gapstur SM,  Pharoah PD,  Easton DF,  Albanes D,  Weinstein SJ,  Virtamo J,  Vatten L,  Hveem K,  Njølstad I,  Tell GS,  Stoltenberg C,  Kumar R,  Koppova K,  Cussenot O,  Benhamou S,  Oosterwijk E,  Vermeulen SH,  Aben KK,  van der Marel SL,  Ye Y,  Wood CG,  Pu X,  Mazur AM,  Boulygina ES,  Chekanov NN,  Foglio M,  Lechner D,  Gut I,  Heath S,  Blanche H,  Hutchinson A,  Thomas G,  Wang Z,  Yeager M,  Fraumeni JF Jr,  Skryabin KG,  McKay JD,  Rothman N,  Chanock SJ,  Lathrop M,  Brennan P
Journal: Nat Genet
Date: 2011 Jan
PubMed ID: 21131975
PMC ID: PMC3049257
Abstract: 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 (r² = 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.