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Title: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
Author(s): Purdue, M.P.
Johansson, M.
Zelenika, D.
Toro, J.R.
Scelo, G.
Moore, L.E.
Prokhortchouk, E.
Wu, X.
Kiemeney, L.A.L.M. (105132063)
Gaborieau, V.
Jacobs, K.B.
Chow, W.H.
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, J.S.
Davis, F.G.
Schwartz, K.L.
Banks, R.E.
Selby, P.J.
Harnden, P.
Berg, C.D.
Hsing, A.W.
Grubb, R.L. 3rd
Boeing, H.
Vineis, P.
Clavel-Chapelon, F.
Palli, D.
Tumino, R.
Krogh, V.
Panico, S.
Duell, E.J.
Quiros, J.R.
Sanchez, M.J.
Navarro, C.
Ardanaz, E.
Dorronsoro, M.
Khaw, K.T.
Allen, N.E.
Bueno-De-Mesquita, H.B.
Peeters, P.H.M.
Trichopoulos, D.
Linseisen, J.
Ljungberg, B.
Overvad, K.
Tjonneland, A.
Romieu, I.
Riboli, E.
Mukeria, A.
Shangina, O.
Stevens, V.L.
Thun, M.J.
Diver, W.R.
Gapstur, S.M.
Pharoah, P.D.
Easton, D.F.
Albanes, D.
Weinstein, S.J.
Virtamo, J.
Vatten, L.
Hveem, K.
Njolstad, I.
Tell, G.S.
Stoltenberg, C.
Kumar, R.
Koppova, K.
Cussenot, O.
Benhamou, S.
Oosterwijk, E. (072531703)
Vermeulen, H.H.M. (298981033)
Aben, K.K.H. (217174302)
Marel, S.L. van der
Ye, Y.
Wood, C.G.
Pu, X.
Mazur, A.M.
Boulygina, E.S.
Chekanov, N.N.
Foglio, M.
Lechner, D.
Gut, I.
Heath, S.
Blanche, H.
Hutchinson, A.
Thomas, G.
Wang, Z.
Yeager, M.
Fraumeni, J.F. Jr.
Skryabin, K.G.
McKay, J.D.
Publication year: 2011
Document type: Article / Letter to editor
Journal: Nature Genetics
ISSN: 1061-4036
Volume: vol. 43
Issue: iss. 1
Start page: p. 60
End page: p. 65
Annotation: 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 Chow, Wong-Ho Zaridze, David Matveev, Vsevolod Lubinski, Jan Trubicka, Joanna Szeszenia-Dabrowska, Neonila Lissowska, Jolanta Rudnai, Peter 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, 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 Mukeria, A
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) and rs7579899 (P = 2.3 x 10), 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(1)). 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). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
Subject: IGMD 3: Genomic disorders and inherited multi-system disorders
NCEBP 1: Molecular epidemiology
NCEBP 1: Molecular epidemiology ONCOL 5: Aetiology, screening and detection
NCMLS 3A: Genetics and epigenetic pathways of disease
Organization: UMCN Extern
Epidemiology, Biostatistics & HTA
Urology
Human Genetics
Otorhinolaryngology
Appears in Collections:Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/97937

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