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Title: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
Author: Purdue, Mark P.
Johansson, Mattias
Zelenika, Diana
Toro, Jorge R.
Scelo, Ghislaine
Moore, Lee E.
Prokhortchouk, Egor
Wu, Xifeng
Kiemeney, Lambertus A.
Gaborieau, Valerie
Jacobs, Kevin B.
Linseisen, Jakob
Ljungberg, Börje
Overvad, Kim
Tjønneland, Anne
Romieu, Isabelle
Riboli, Elio
Mukeria, Anush
Shangina, Oxana
Stevens, Victoria L.
Thun, Michael J.
Diver, W. Ryan
Gapstur, Susan M.
Pharoah, Paul D.
Easton, Douglas F.
Albanes, Demetrius
Weinstein, Stephanie J.
Virtamo, Jarmo
Vatten, Lars
Hveem, Kristian
Njølstad, Inger
Tell, Grethe
Stoltenberg, Camilla
Kumar, Rajiv
Koppova, Kvetoslava
Cussenot, Olivier
Benhamou, Simone
Oosterwijk, Egbert
Vermeulen, Sita H.
Aben, Katja K.
van der Marel, Saskia L.
Ye, Yuanqing
Wood, Christopher G.
Pu, Xia
Mazur, Alexander M.
Boulygina, Eugenia S.
Chekanov, Nikolai N.
Foglio, Mario
Lechner, Doris
Gut, Ivo
Heath, Simon
Blanche, Hélène
Hutchinson, Amy
Thomas, Gilles
Wang, Zhaoming
Yeager, Meredith
Fraumeni, Joseph F.
Skryabin, Konstantin G.
McKay, James D.
Rothman, Nathaniel
Chanock, Stephen J.
Lathrop, Mark
Brennan, Paul
Chow, Wong-Ho
Zaridze, David
Matveev, Vsevolod
Lubinski, Jan
Trubicka, Joanna
Szeszenia-Dabrowska, Neonila
Lissowska, Jolanta
Rudnai, Péter
Fabianova, Eleonora
Bucur, Alexandru
Bencko, Vladimir
Foretova, Lenka
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 III, Robert L.
Boeing, Heiner
Vineis, Paolo
Clavel-Chapelon, Françoise
Palli, Domenico
Tumino, Rosario
Krogh, Vittorio
Panico, Salvatore
Duell, Eric J.
Quirós, J. Ramón
Sánchez, María José
Navarro, Carmen
Ardanaz, Eva
Dorronsoro, Miren
Khaw, Kay-Tee
Allen, Naomi E.
Bueno de Mesquita, H. Bas
Peeters, Petra H. M.
Trichopoulos, Dimitrios
Keywords: Càncer de ronyó
Kidney cancer
Issue Date: Jan-2011
Publisher: Nature Publishing Group
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 (r(2) = 0.99 in controls), rs11894252 (P = 1.8 x 10(-8)) and rs7579899 (P = 2.3 x 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 x 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 x 10(-8)). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
Note: Versió postprint del document publicat a:
It is part of: Nature Genetics, 2011, vol. 43, num. 1, p. 60-65
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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