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A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

  1. Author:
    Wu, X. F.
    Scelo, G.
    Purdue, M. P.
    Rothman, N.
    Johansson, M.
    Ye, Y. Q.
    Wang, Z. M.
    Zelenika, D.
    Moore, L. E.
    Wood, C. G.
    Prokhortchouk, E.
    Gaborieau, V.
    Jacobs, K. B.
    Chow, W. H.
    Toro, J. R.
    Zaridze, D.
    Lin, J.
    Lubinski, J.
    Trubicka, J.
    Szeszenia-Dabrowska, N.
    Lissowska, J.
    Rudnai, P.
    Fabianova, E.
    Mates, D.
    Jinga, V.
    Bencko, V.
    Slamova, A.
    Holcatova, I.
    Navratilova, M.
    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.
    Stevens, V. L.
    Thun, M. J.
    Diver, W. R.
    Gapstur, S. M.
    Pharoah, P. D.
    Easton, D. F.
    Albanes, D.
    Virtamo, J.
    Vatten, L.
    Hveem, K.
    Fletcher, T.
    Koppova, K.
    Cussenot, O.
    Cancel-Tassin, G.
    Benhamou, S.
    Hildebrandt, M. A.
    Pu, X.
    Foglio, M.
    Lechner, D.
    Hutchinson, A.
    Yeager, M.
    Fraumeni, J. F.
    Lathrop, M.
    Skryabin, K. G.
    McKay, J. D.
    Gu, J.
    Brennan, P.
    Chanock, S. J.
  2. Author Address

    [Wood, Christopher G.] Univ Texas MD Anderson Canc Ctr, Dept Urol, Houston, TX 77030 USA. [Scelo, Ghislaine; Johansson, Mattias; Gaborieau, Valerie; Romieu, Isabelle; McKay, James D.; Brennan, Paul] IARC, F-69008 Lyon, France. [Purdue, Mark P.; Rothman, Nathaniel; Wang, Zhaoming; Moore, Lee E.; Jacobs, Kevin B.; Chow, Wong-Ho; Toro, Jorge R.; Colt, Joanne S.; Hsing, Ann W.; Albanes, Demetrius; Hutchinson, Amy; Yeager, Meredith; Fraumeni, Joseph F., Jr.; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Berg, Christine D.] NCI, Dept Hlth & Human Serv, Canc Prevent Div, NIH, Bethesda, MD 20892 USA. [Wang, Zhaoming; Jacobs, Kevin B.; Hutchinson, Amy; Yeager, Meredith] NCI, Core Genotyping Facil, SAIC Frederick Inc, Frederick, MD 21701 USA. [Zelenika, Diana; Foglio, Mario; Lechner, Doris; Lathrop, Mark] Ctr Natl Genotypage, Commissariat Energie Atom, Inst Genom, F-91000 Evry, France. [Prokhortchouk, Egor] Russian Acad Sci, Ctr Bioengn, Moscow 117312, Russia. [Zaridze, David] Russian NN Blokhin Canc Res Ctr, Moscow 115478, Russia. [Lubinski, Jan; Trubicka, Joanna] Pomeranian Med Univ, Dept Genet & Pathomorphol, Int Hereditary Canc Ctr, Szczecin, Poland. [Szeszenia-Dabrowska, Neonilia] Inst Occupat Med, Dept Epidemiol, PL-90950 Lodz, Poland. [Lissowska, Jolanta] Inst Oncol, PL-02781 Warsaw, Poland. [Lissowska, Jolanta] M Sklodowska Curie Mem Canc Ctr, PL-02781 Warsaw, Poland. [Rudnai, Peter] Natl Inst Environm Hlth, Dept Environm Epidemiol, H-1097 Budapest, Hungary. [Wu, Xifeng; Ye, Yuanqing; Lin, Jie; Hildebrandt, Michelle A.; Pu, Xia; Gu, Jian] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Div Canc Prevent & Populat Sci, Houston, TX 77030 USA. [Fabianova, Eleonora; Koppova, Kvetoslava] Reg Author Publ Hlth Banska Bystrica, Banska 97556, Bystrica, Slovakia. [Mates, Dana] Natl Inst Publ Hlth, Bucharest 050463, Romania. [Jinga, Viorel] T Burghele Clin Urol, Bucharest, Romania. [Bencko, Vladimir; Slamova, Alena; Holcatova, Ivana] Charles Univ Prague, Inst Hyg & Epidemiol, Fac Med 1, Prague 12800 2, Czech Republic. [Navratilova, Marie] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno 65653, Czech Republic. [Janout, Vladimir] Palacky Univ, Olomouc 77515, Czech Republic. [Boffetta, Paolo] Mt Sinai Sch Med, Tisch Canc Inst, New York, NY 10029 USA. [Boffetta, Paolo] Int Prevent Res Inst, F-69006 Lyon, France. [Davis, Faith G.] Univ Illinois, Sch Publ Hlth, Div Epidemiol Biostat, Chicago, IL 60612 USA. [Schwartz, Kendra L.] Wayne State Univ, Karmanos Canc Inst, Detroit, MI 48201 USA. [Schwartz, Kendra L.] Wayne State Univ, Dept Family Med, Detroit, MI 48201 USA. [Banks, Rosamonde E.; Selby, Peter J.] St James Univ Hosp, Canc Res UK Ctr, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England. [Harnden, Patricia] St James Univ Hosp, Dept Pathol, Leeds LS9 7TF, W Yorkshire, England. [Grubb, Robert L., III; Vineis, Paolo] Washington Univ, Sch Med, Div Urol Surg, St Louis, MO 63110 USA. [Boeing, Heiner] German Inst Human Nutr, Dept Epidemiol, D-14558 Potsdam, Nuthetal, Germany. [Peeters, Petra H. M.; Riboli, Elio] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, London SW7 2AZ, England. [Vineis, Paolo] Univ London Imperial Coll Sci Technol & Med, MRC HPA Ctr Environm & Hlth, London SW7 2AZ, England. [Vineis, Paolo] HuGeF Fdn, I-10100 Turin, Italy. [Clavel-Chapelon, Francoise] Inst Gustave Roussy, INSERM, Ctr Res Epidemiol & Populat Hlth, U1018, F-94805 Villejuif, France. [Clavel-Chapelon, Francoise] Paris S Univ, UMRS 1018, F-94805 Villejuif, France. [Palli, Domenico] Canc Res & Prevent Inst ISPO, Mol & Nutr Epidemiol Unit, Florence, Italy. [Tumino, Rosario] Civile MP Arezzo Hosp, Canc Registry, Ragusa, Italy. [Tumino, Rosario] Civile MP Arezzo Hosp, Histopathol Unit, Ragusa, Italy. [Krogh, Vittorio] Fdn IRCCS Ist Nazl Tumori, Nutr Epidemiol Unit, I-20133 Milan, Italy. [Panico, Salvatore] Univ Naples Federico 2, Dept Clin & Expt Med, I-80131 Naples, Italy. [Duell, Eric J.] Catalan Inst Oncol ICO IDIBELL, Unit Nutr Environm & Canc, Canc Epidemiol Res Program, Barcelona 08907, Spain. [Ramon Quiros, Jose] Publ Hlth & Hlth Planning Directorate, Asturias, Spain. [Sanchez, Maria-Jose] Andalusian Sch Publ Hlth, Granada 18011, Spain. [Sanchez, Maria-Jose; Navarro, Carmen; Ardanaz, Eva; Dorronsoro, Miren] CIBERESP, CIBER, Madrid 28029, Spain. [Navarro, Carmen] Reg Council Hlth & Consumer Affairs, Dept Epidemiol, Murcia 30008, Spain. [Ardanaz, Eva] Publ Hlth Inst Navarra, Pamplona, Spain. [Dorronsoro, Miren] Basque Reg Hlth Dept, Publ Hlth Div Gipuzkoa, San Sebastian 20113, Spain. [Khaw, Kay-Tee] Univ Cambridge, Dept Publ Hlth & Primary Care, Dept Gerontol, Cambridge CB2 0XY, England. [Allen, Naomi E.] Univ Oxford, Canc Epidemiol Unit, Nuffield Dept Clin Med, Oxford OX3 7LF, 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, NL-3508 GA 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-69120 Heidelberg, Germany. [Linseisen, Jakob] Helmholtz Ctr Munich, Inst Epidemiol 1, D-85764 Neuherberg, Germany. [Ljungberg, Borje] Umea Univ, Dept Surg & Perioperat Sci Urol & Androl, S-90185 Umea, Sweden. [Overvad, Kim; Easton, Douglas F.] Aarhus Univ, Dept Epidemiol, Sch Publ Hlth, DK-8000 Aarhus, Denmark. [Tjonneland, Anne] Danish Canc Soc, Inst Canc Epidemiol, DK-2100 Copenhagen, Denmark. [Stevens, Victoria L.; Thun, Michael J.; Diver, W. Ryan; Gapstur, Susan M.] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA. [Pharoah, Paul D.] Univ Cambridge, Dept Oncol, Cambridge CB1 8RN, England. [Pharoah, Paul D.; Easton, Douglas F.] Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England. [Virtamo, Jarmo] Natl Inst Hlth & Welf, Dept Chron Dis Prevent, FIN-00300 Helsinki, Finland. [Vatten, Lars; Hveem, Kristian] Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, N-7489 Trondheim, Norway. [Fletcher, Tony] Univ London, London Sch Hyg & Trop Med, London WC1H 9SH, England. [Cussenot, Olivier; Cancel-Tassin, Geraldine] Univ Paris 06, Tenon Hosp, APHP, CeRePP,ER2, F-75020 Paris, France. [Benhamou, Simone] INSERM, U946, F-75010 Paris, France. [Benhamou, Simone] Inst Gustave Roussy, CNRS, UMR8200, F-94805 Villejuif, France. [Skryabin, Konstantin G.] Kurchatov Sci Ctr, Moscow, Russia.;Wu, XF (reprint author), Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Div Canc Prevent & Populat Sci, Houston, TX 77030 USA;xwu@mdanderson.org chanocks@mail.nih.gov
    1. Year: 2012
    2. Date: Jan
  1. Journal: Human Molecular Genetics
    1. 21
    2. 2
    3. Pages: 456-462
  2. Type of Article: Article
  3. ISSN: 0964-6906
  1. Abstract:

    Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome- wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 x 10(-10) and P = 6.07 x 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.

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External Sources

  1. DOI: 10.1093/hmg/ddr479
  2. WOS: 000298658300019

Library Notes

  1. Fiscal Year: FY2011-2012
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