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The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma

  1. Author:
    Han, S. S.
    Yeager, M.
    Moore, L. E.
    Wei, M. H.
    Pfeiffer, R.
    Toure, O.
    Purdue, M. P.
    Johansson, M.
    Scelo, G.
    Chung, C. C.
    Gaborieau, V.
    Zaridze, D.
    Schwartz, K.
    Szeszenia-Dabrowska, N.
    Davis, F.
    Bencko, V.
    Colt, J. S.
    Janout, V.
    Matveev, V.
    Foretova, L.
    Mates, D.
    Navratilova, M.
    Boffetta, P.
    Berg, C. D.
    Grubb, R. L.
    Stevens, V. L.
    Thun, M. J.
    Diver, W. R.
    Gapstur, S. M.
    Albanes, D.
    Weinstein, S. J.
    Virtamo, J.
    Burdett, L.
    Brisuda, A.
    McKay, J. D.
    Fraumeni, J. F.
    Chatterjee, N.
    Rosenberg, P. S.
    Rothman, N.
    Brennan, P.
    Chow, W. H.
    Tucker, M. A.
    Chanock, S. J.
    Toro, J. R.

  2. Author Address

    [Han, Summer S.; Yeager, Meredith; Moore, Lee E.; Wei, Ming-Hui; Pfeiffer, Ruth; Toure, Ousmane; Purdue, Mark P.; Chung, Charles C.; Colt, Joanne S.; Albanes, Demetrius; Weinstein, Stephanie J.; Burdett, Laurie; Fraumeni, Joseph F., Jr.; Chatterjee, Nilanjan; Rosenberg, Philip S.; Rothman, Nathaniel; Chow, Wong-Ho; Tucker, Margaret A.; Chanock, Stephen J.; Toro, Jorge R.] NCI, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv, NIH, Bethesda, MD 20892 USA. [Berg, Christine D.] NCI, Canc Prevent Div, Dept Hlth & Human Serv, NIH, Bethesda, MD 20892 USA. [Yeager, Meredith] NCI, Core Genotyping Facil, Adv Technol Ctr, NIH,SAIC Frederick Inc, Frederick, MD 21701 USA. [Johansson, Mattias; Scelo, Ghislaine; Gaborieau, Valerie; McKay, James D.; Brennan, Paul] IARC, Lyon, France. [Zaridze, David; Matveev, Vsevolod] NN Blokhin Canc Res Ctr, Moscow, Russia. [Schwartz, Kendra] Wayne State Univ, Karmanos Canc Inst, Detroit, MI USA. [Zaridze, David] Wayne State Univ, Dept Family Med, Detroit, MI USA. [Szeszenia-Dabrowska, Neonilia] Inst Occupat Med, Dept Epidemiol, Lodz, Poland. [Davis, Faith] Univ Illinois, Sch Publ Hlth, Div Epidemiol & Biostat, Chicago, IL USA. [Bencko, Vladimir] Charles Univ Prague, Fac Med 1, Inst Hyg & Epidemiol, Prague, Czech Republic. [Janout, Vladimir] Palacky Univ, CR-77147 Olomouc, Czech Republic. [Foretova, Lenka; Navratilova, M.] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic. [Mates, Dana] Inst Publ Hlth, Bucharest, Romania. [Boffetta, Paolo] Mt Sinai Sch Med, Tisch Canc Inst, New York, NY USA. [Grubb, Robert L., III] Washington Univ, Sch Med, Div Urol Surg, St Louis, MO 63110 USA. [Stevens, Victoria L.; Thun, Michael J.; Diver, W. Ryan; Gapstur, Susan M.] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30329 USA. [Virtamo, Jarmo] Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland. [Brisuda, Antonin] Univ Hosp Motol, Dept Urol, Prague, Czech Republic. [Toro, Jorge R.] DC VAMC, Washington, DC USA.;Toro, JR (reprint author), NCI, Div Canc Epidemiol & Genet, 6120 Execut Blvd,Execut Plaza S,Room 7012, Rockville, MD 20892 USA;toroj@mail.nih.gov
    1. Year: 2012
    2. Date: Mar
  2. Journal: Human Molecular Genetics
    1. 21
    2. 5
    3. Pages: 1190-1200
  4. Type of Article: Article
  5. ISSN: 0964-6906
  1. Abstract:

    In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P 5.75 10(8), per-allele odds ratio (OR) 1.27, 95 confidence interval (CI): 1.171.39]. Imputation of common SNPs surrounding rs9679290 using HapMap 3 and 1000 Genomes data yielded two additional signals, rs4953346 (P 4.09 10(14)) and rs12617313 (P 7.48 10(12)), both highly correlated with rs9679290 (r(2) 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r(2) 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P 1.72 10(9), per-allele OR 1.28, 95 CI: 1.181.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants.

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  2. DOI: 10.1093/hmg/ddr551
  3. View record in Web of Science®
  4. WOS: 000300242000020

Library Notes

  1. Fiscal Year: FY2011-2012
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