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2. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
- Author
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Jorge R. Toro, Vladimir Janout, Zhaoming Wang, Françoise Clavel-Chapelon, Petra H.M. Peeters, Paul Brennan, Camilla Stoltenberg, Hélène Blanché, Diana Zelenika, Vsevolod Matveev, Naomi E. Allen, Rosario Tumino, Vladimir Bencko, H. Bas Bueno-de-Mesquita, Lee E. Moore, María José Sánchez, Mark P. Purdue, Stephen J. Chanock, Kim Overvad, Kvetoslava Koppova, Joanne S. Colt, Eleonora Fabianova, Yuanqing Ye, Grethe S. Tell, Simon Heath, José Ramón Quirós, Egbert Oosterwijk, Amy Hutchinson, Jan Lubinski, Kristian Hveem, Peter Rudnai, Alexandru Bucur, Elio Riboli, James McKay, Ivo Gut, Paolo Vineis, Rosamonde E. Banks, Douglas F. Easton, Jarmo Virtamo, Wong-Ho Chow, Neonila Szeszenia-Dabrowska, Isabelle Romieu, Mark Lathrop, Demetrius Albanes, Kevin B. Jacobs, Sita H. Vermeulen, Egor Prokhortchouk, Carmen Navarro, Ann W. Hsing, Doris Lechner, M. Dorronsoro, Kendra Schwartz, Konstantin G. Skryabin, Mattias Johansson, Eric J. Duell, Valerie Gaborieau, W. Ryan Diver, Susan M. Gapstur, Börje Ljungberg, Dimitrios Trichopoulos, Paul D.P. Pharoah, Gilles Thomas, Victoria L. Stevens, Paolo Boffetta, Vittorio Krogh, David Zaridze, Lambertus A. Kiemeney, Joseph F. Fraumeni, Eugenia S. Boulygina, Kay-Tee Khaw, Olivier Cussenot, Heiner Boeing, Nathaniel Rothman, Michael J. Thun, Saskia S. L. van der Marel, Anush Mukeria, Alexander M. Mazur, Salvatore Panico, Peter Selby, Ghislaine Scelo, Faith G. Davis, Simone Benhamou, Joanna Trubicka, Christine D. Berg, Anne Tjønneland, Eva Ardanaz, Jolanta Lissowska, Katja K.H. Aben, Xifeng Wu, Rajesh Kumar, Jakob Linseisen, Nikolai N. Chekanov, Domenico Palli, Stephanie J. Weinstein, Inger Njølstad, Mario Foglio, Lars J. Vatten, Meredith Yeager, Xia Pu, Robert L. Grubb, Oxana Shangina, Christopher G. Wood, Patricia Harnden, Lenka Foretova, Purdue, M.P., Johansson, M., Zelenika, D., Toro, J.R., Scelo, G., Moore, L.E., Prokhortchouk, E., Wu, X., Kiemeney, L.A., 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., Boeing, H., Vineis, P., Clavel-Chapelon, F., Palli, D., Tumino, R., Krogh, V., Panico, S., Duell, E.J., Quiós, 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., Tjønneland, 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., Njølstad, I., Tell, G.S., Stoltenberg, C., Kumar, R., Koppova, K., Cussenot, O., Benhamou, S., Oosterwijk, E., Vermeulen, S.H., Aben, K.K.H., Van Der Marel, S.L., 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 Jr., J.F., Skryabin, K.G., McKay, J.D., Rothman, N., Chanock, S.J., Lathrop, M., and Brennan, P.
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Genetics and epigenetic pathways of disease [NCMLS 6] ,Single-nucleotide polymorphism ,Locus (genetics) ,Genome-wide association study ,Biology ,carcinoma ,association study ,Genome ,Polymorphism, Single Nucleotide ,susceptibility ,Article ,Càncer de ronyó ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,Molecular epidemiology [NCEBP 1] ,03 medical and health sciences ,0302 clinical medicine ,Gene mapping ,Risk Factors ,Genetics ,Humans ,Genetic Predisposition to Disease ,Genome-wide ,Gene ,Carcinoma, Renal Cell ,030304 developmental biology ,11q13.3 ,Molecular epidemiology Aetiology, screening and detection [NCEBP 1] ,0303 health sciences ,Genome, Human ,Chromosomes, Human, Pair 11 ,Kidney cancer ,Genomics ,2p21 ,SCARB1 ,Kidney Neoplasms ,3. Good health ,Genòmica ,030220 oncology & carcinogenesis ,Case-Control Studies ,Chromosomes, Human, Pair 2 ,loci ,Human genome ,renal ,Genome-Wide Association Study - Abstract
Contains fulltext : 97937.pdf (Publisher’s version ) (Closed access) 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.
- Published
- 2011
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