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A common variant at 8q24.21 is associated with renal cell cancer

Author

Listed:
  • Julius Gudmundsson

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Patrick Sulem

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Daniel F. Gudbjartsson

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Gisli Masson

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Vigdis Petursdottir

    (Landspitali-University Hospital)

  • Sverrir Hardarson

    (Landspitali-University Hospital)

  • Sigurjon A. Gudjonsson

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Hrefna Johannsdottir

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Hafdis Th. Helgadottir

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Simon N. Stacey

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Olafur Th. Magnusson

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Hannes Helgason

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Angeles Panadero

    (Ciudad de Coria Hospital)

  • Loes F. van der Zanden

    (Radboud University Medical Center)

  • Katja K. H. Aben

    (Radboud University Medical Center
    Comprehensive Cancer Center The Netherlands)

  • Sita H. Vermeulen

    (Radboud University Medical Center
    Radboud University Medical Center)

  • Egbert Oosterwijk

    (Radboud University Medical Centre)

  • Augustine Kong

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Jose I. Mayordomo

    (University of Zaragoza)

  • Asgerdur Sverrisdottir

    (Landspitali-University Hospital)

  • Eirikur Jonsson

    (Landspitali-University Hospital)

  • Tomas Gudbjartsson

    (Landspitali-University Hospital
    Faculty of Medicine, University of Iceland)

  • Gudmundur V. Einarsson

    (Landspitali-University Hospital)

  • Lambertus A. Kiemeney

    (Radboud University Medical Center
    Radboud University Medical Centre)

  • Unnur Thorsteinsdottir

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland
    Faculty of Medicine, University of Iceland)

  • Thorunn Rafnar

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland)

  • Kari Stefansson

    (DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, Iceland
    Faculty of Medicine, University of Iceland)

Abstract

Renal cell carcinoma (RCC) represents between 80 and 90% of kidney cancers. Previous genome-wide association studies of RCC have identified five variants conferring risk of the disease. Here we report the results from a discovery RCC genome-wide association study and replication analysis, including a total of 2,411 patients and 71,497 controls. One variant, rs35252396[CG] located at 8q24.21, is significantly associated with RCC after combining discovery and replication results (OR=1.27, Pcombined=5.4 × 10−11) and has an average risk allele frequency in controls of 46%. rs35252396[CG] does not have any strongly correlated variants in the genome and is located within a region predicted to have regulatory functions in several cell lines, including six originating from the kidney. This is the first RCC variant reported at 8q24.21 and it is largely independent (r2≤0.02) of the numerous previously reported cancer risk variants at this locus.

Suggested Citation

  • Julius Gudmundsson & Patrick Sulem & Daniel F. Gudbjartsson & Gisli Masson & Vigdis Petursdottir & Sverrir Hardarson & Sigurjon A. Gudjonsson & Hrefna Johannsdottir & Hafdis Th. Helgadottir & Simon N., 2013. "A common variant at 8q24.21 is associated with renal cell cancer," Nature Communications, Nature, vol. 4(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:4:y:2013:i:1:d:10.1038_ncomms3776
    DOI: 10.1038/ncomms3776
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