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

  1. Author:
    Purdue, M. P.
    Johansson, M.
    Zelenika, D.
    Toro, J. R.
    Scelo, G.
    Moore, L. E.
    Prokhortchouk, E.
    Wu, X. F.
    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.
    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.
    Tjonnel, 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.
    Vermeulen, S. H.
    Aben, K. K. H.
    van der Marel, S. L.
    Ye, Y. Q.
    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. M.
    Yeager, M.
    Fraumeni, J. F.
    Skryabin, K. G.
    McKay, J. D.
    Rothman, N.
    Chanock, S. J.
    Lathrop, M.
    Brennan, P.
  2. Author Address

    [Purdue, Mark P.; Toro, Jorge R.; Moore, Lee E.; Jacobs, Kevin B.; Chow, Wong-Ho; Colt, Joanne S.; Hsing, Ann W.; Albanes, Demetrius; Weinstein, Stephanie J.; Hutchinson, Amy; Thomas, Gilles; Wang, Zhaoming; Yeager, Meredith; Fraumeni, Joseph F., Jr.; Rothman, Nathaniel; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, NIH, US Dept HHS, Bethesda, MD 20892 USA. [Johansson, Mattias; Scelo, Ghislaine; Gaborieau, Valerie; Romieu, Isabelle; McKay, James D.; Brennan, Paul] Int Agcy Res Canc, F-69372 Lyon, France. [Zelenika, Diana; Foglio, Mario; Lechner, Doris; Gut, Ivo; Heath, Simon; Lathrop, Mark] Ctr Natl Genotypage, Inst Genom, CEA, Evry, France. [Prokhortchouk, Egor; Mazur, Alexander M.; Chekanov, Nikolai N.; Skryabin, Konstantin G.] Russian Acad Sci, Ctr Bioengn, Moscow, Russia. [Prokhortchouk, Egor; Mazur, Alexander M.; Boulygina, Eugenia S.; Skryabin, Konstantin G.] Kurchatov Sci Ctr, Moscow, Russia. [Wu, Xifeng; Ye, Yuanqing; Pu, Xia] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Div Canc Prevent & Populat Sci, Houston, TX 77030 USA. [Kiemeney, Lambertus A.; Vermeulen, Sita H.; Aben, Katja K. H.] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol Biostat & Hlth Technol Assessment, NL-6525 ED Nijmegen, Netherlands. [Kiemeney, Lambertus A.; Oosterwijk, Egbert] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands. [Jacobs, Kevin B.; Hutchinson, Amy; Thomas, Gilles; Wang, Zhaoming; Yeager, Meredith] NCI, Core Genotyping Facil, SAIC Frederick Inc, Frederick, MD 21701 USA. [Zaridze, David; Matveev, Vsevolod; Mukeria, Anush; Shangina, Oxana] Russian NN Blokhin Canc Res Ctr, Moscow, Russia. [Lubinski, Jan; Trubicka, Joanna] Pomeranian Med Univ, Dept Genet & Pathomorphol, Int Hereditary Canc Ctr, Szczecin, Poland. [Szeszenia-Dabrowska, Neonila] Inst Occupat Med, Dept Epidemiol, Lodz, Poland. [Lissowska, Jolanta] Maria Sklodowska Curie Mem Canc Ctr, Warsaw, Poland. [Lissowska, Jolanta] Inst Oncol, Warsaw, Poland. [Rudnai, Peter] Natl Inst Environm Hlth, Dept Environm Epidemiol, Budapest, Hungary. [Fabianova, Eleonora] Reg Author Publ Hlth, Banska Bystrica, Slovakia. [Bucur, Alexandru] Inst Publ Hlth, Bucharest, Romania. [Bencko, Vladimir] Charles Univ Prague, Fac Med 1, Inst Hyg & Epidemiol, Prague, Czech Republic. [Foretova, Lenka] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic. [Janout, Vladimir] Palacky Univ, CR-77147 Olomouc, Czech Republic. [Boffetta, Paolo] Mt Sinai Sch Med, Tisch Canc Inst, New York, NY USA. [Davis, Faith G.] Univ Illinois, Sch Publ Hlth, Div Epidemiol & Biostat, Chicago, IL USA. [Schwartz, Kendra L.] Wayne State Univ, Karmanos Canc Inst, Detroit, MI USA. [Schwartz, Kendra L.] Wayne State Univ, Dept Family Med, Detroit, MI USA. [Banks, Rosamonde E.; Selby, Peter J.] St James Univ Hosp, Leeds Inst Mol Med, Canc Res UK Ctr, Leeds, W Yorkshire, England. [Harnden, Patricia] St James Univ Hosp, Dept Pathol, Leeds, W Yorkshire, England. [Berg, Christine D.] NCI, Canc Prevent Div, NIH, US Dept HHS, Bethesda, MD 20892 USA. [Grubb, Robert L., III] Washington Univ, Sch Med, Div Urol Surg, St Louis, MO 63110 USA. [Boeing, Heiner] German Inst Human Nutr, Dept Epidemiol, Potsdam, Nuthetal, Germany. [Vineis, Paolo; Peeters, Petra H. M.; Riboli, Elio] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, London, England. [Vineis, Paolo] Univ London Imperial Coll Sci Technol & Med, Ctr Environm & Hlth, MRC HPA, London, England. [Vineis, Paolo] Human Genet Fdn HuGeF, Turin, Italy. [Clavel-Chapelon, Francoise] Inst Gustave Roussy, Ctr Res Epidemiol & Populat Hlth, INSERM, Villejuif, France. [Clavel-Chapelon, Francoise] Paris S Univ, UMRS 1018, Villejuif, France. [Palli, Domenico] Canc Res & Prevent Inst ISPO, Mol & Nutr Epidemiol Unit, Florence, Italy. [Tumino, Rosario] Azienda Osped Civile MP Arezzo, Canc Registry, Ragusa, Italy. [Krogh, Vittorio] Ist Nazl Tumori, Fdn Ist Ricovero & Cura Carattere Sci IRCCS, Nutr Epidemiol Unit, I-20133 Milan, Italy. [Panico, Salvatore] Univ Naples Federico 2, Dept Clin & Expt Med, Naples, Italy. [Duell, Eric J.] Catalan Inst Oncol ICO IDIBELL, Canc Epidemiol Res Program, Unit Nutr Environm & Canc, Barcelona, Spain. [Quiros, Jose Ramon] Consejeria Serv Sociales, Jefe Secc Informac Sanitaria, Oviedo, Spain. [Sanchez, Maria-Jose] Andalusian Sch Publ Hlth, Granada, Spain. [Sanchez, Maria-Jose; Navarro, Carmen; Ardanaz, Eva; Dorronsoro, Miren] CIBER Epidemiol & Salud Publ CIBERESP, Barcelona, Spain. [Navarro, Carmen] Reg Council Hlth & Consumer Affairs, Dept Epidemiol, Murcia, Spain. [Ardanaz, Eva] Publ Hlth Inst Navarra, Pamplona, Spain. [Dorronsoro, Miren] Basque Reg Hlth Dept, Publ Hlth Div Gipuzkoa, San Sebastian, Spain. [Khaw, Kay-Tee] Univ Cambridge, Dept Publ Hlth & Primary Care, Dept Gerontol, Cambridge, England. [Allen, Naomi E.] Univ Oxford, Nuffield Dept Clin Med, Canc Epidemiol Unit, Oxford, England. [Bueno-de-Mesquita, H. Bas] Natl Inst Publ Hlth & Environm RIVM, Bilthoven, Netherlands. [Peeters, Petra H. M.] Univ Med Ctr, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands. [Trichopoulos, Dimitrios] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. [Trichopoulos, Dimitrios] Acad Athens, Bur Epidemiol Res, Athens, Greece. [Linseisen, Jakob] German Canc Res Ctr, Div Canc Epidemiol, D-6900 Heidelberg, Germany. [Linseisen, Jakob] Helmholtz Ctr Munich, Inst Epidemiol, Munich, Germany. [Ljungberg, Borje] Umea Univ, Dept Surg & Perioperat Sci Urol & Androl, Umea, Sweden. [Overvad, Kim; Stevens, Victoria L.; Diver, W. Ryan] Aarhus Univ, Sch Publ Hlth, Dept Epidemiol, Aarhus, Denmark. [Tjonneland, Anne] Inst Canc Epidemiol, Danish Canc Soc, Copenhagen, Denmark. [Thun, Michael J.; Gapstur, Susan M.] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA. [Pharoah, Paul D.; Easton, Douglas F.] Univ Cambridge, Dept Oncol, Cambridge, England. [Pharoah, Paul D.; Easton, Douglas F.] Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England. [Virtamo, Jarmo] Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland. [Vatten, Lars; Hveem, Kristian] Norwegian Univ Sci & Technol, Fac Med, Dept Publ Hlth, N-7034 Trondheim, Norway. [Njolstad, Inger] Univ Tromso, Dept Community Med, Tromso, Norway. [Tell, Grethe S.] Univ Bergen, Dept Publ Hlth & Primary Hlth Care, Bergen, Norway. [Stoltenberg, Camilla] Norwegian Inst Publ Hlth, Div Epidemiol, Oslo, Norway. [Kumar, Rajiv] German Canc Res Ctr, Div Mol Genet Epidemiol, D-6900 Heidelberg, Germany. [Koppova, Kvetoslava] Reg Author Publ Hlth, Dept Environm Hyg, Banska Bystrica, Slovakia. [Cussenot, Olivier] Univ Paris 06, Tenon Hosp, APHP, CeRePP,ER2, Paris, France. [Benhamou, Simone] Fdn Jean Dausset, Ctr Etud Polymorphisme Humain, INSERM, U946, Paris, France. [Benhamou, Simone] Inst Gustave Roussy, CNRS, UMR8200, Villejuif, France. [Vermeulen, Sita H.; van der Marel, Saskia L.] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands. [Aben, Katja K. H.] Comprehens Canc Ctr E, Dept Canc Registry & Res, Nijmegen, Netherlands. [Wood, Christopher G.] Univ Texas MD Anderson Canc Ctr, Dept Urol, Houston, TX 77030 USA.;Chanock, SJ, NCI, Div Canc Epidemiol & Genet, NIH, US Dept HHS, Bethesda, MD 20892 USA.;chanocks@mail.nih.gov brennan@iarc.fr
    1. Year: 2011
    2. Date: Jan
  1. Journal: Nature Genetics
    1. 43
    2. 1
    3. Pages: 60-U83
  2. Type of Article: Article
  3. ISSN: 1061-4036
  1. 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.

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External Sources

  1. DOI: 10.1038/ng.723
  2. WOS: 000285683500017

Library Notes

  1. Fiscal Year: FY2010-2011
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