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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-01

AUTHORS

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 Fabianova, Alexandru 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, Françoise Clavel-Chapelon, Domenico Palli, Rosario Tumino, Vittorio Krogh, Salvatore Panico, Eric J Duell, José Ramón Quirós, 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

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. More... »

PAGES

60

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    1

    VOLUME

    43

    Author Affiliations

  • National Institutes of Health
  • International Agency For Research On Cancer
  • Centre National de Génotypage
  • Scientific Center
  • The University of Texas MD Anderson Cancer Center
  • Radboud University Nijmegen Medical Centre
  • Frederick National Laboratory for Cancer Research
  • Department of Medical Sciences
  • Pomeranian Medical University
  • Nofer Institute of Occupational Medicine
  • Centrum Onkologii Instytut
  • Orszagos Kornyezetegeszsegugyi Intezet
  • Charles University
  • Masaryk Memorial Cancer Institute
  • Palacký University, Olomouc
  • Icahn School of Medicine at Mount Sinai
  • University of Illinois at Chicago
  • Wayne State University
  • St James's University Hospital
  • Washington University in St. Louis
  • German Institute of Human Nutrition
  • Human Genetics Foundation
  • Institut Gustave Roussy
  • Istituto per lo Studio e la Prevenzione Oncologica
  • Istituto Nazionale dei Tumori
  • University of Naples Federico II
  • Institut Català d'Oncologia
  • Instituto de Salud Carlos III
  • University of Cambridge
  • University of Oxford
  • National Institute for Public Health and the Environment
  • University Medical Center Utrecht
  • Academy of Athens
  • Helmholtz Zentrum München
  • Umeå University
  • Aarhus University
  • Danish Cancer Society
  • Imperial College London
  • American Cancer Society
  • National Institute for Health and Welfare
  • Norwegian University of Science and Technology
  • The Arctic University of Norway
  • University of Bergen
  • Norwegian Institute of Public Health
  • German Cancer Research Center
  • Assistance Publique -Hopitaux De Paris
  • Russian Academy of Sciences
  • Fondation Jean Dausset Centre d'Etude du Polymorphisme Humain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.723

    DOI

    http://dx.doi.org/10.1038/ng.723

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1002335068

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/21131975


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