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

Julius Gudmundsson (), Patrick Sulem, Daniel F. Gudbjartsson, Gisli Masson, Vigdis Petursdottir, Sverrir Hardarson, Sigurjon A. Gudjonsson, Hrefna Johannsdottir, Hafdis Th. Helgadottir, Simon N. Stacey, Olafur Th. Magnusson, Hannes Helgason, Angeles Panadero, Loes F. van der Zanden, Katja K. H. Aben, Sita H. Vermeulen, Egbert Oosterwijk, Augustine Kong, Jose I. Mayordomo, Asgerdur Sverrisdottir, Eirikur Jonsson, Tomas Gudbjartsson, Gudmundur V. Einarsson, Lambertus A. Kiemeney, Unnur Thorsteinsdottir, Thorunn Rafnar and Kari Stefansson ()
Additional contact information
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
Sita H. Vermeulen: 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
Gudmundur V. Einarsson: Landspitali-University Hospital
Lambertus A. Kiemeney: Radboud University Medical Center
Unnur Thorsteinsdottir: DeCODE genetics Inc./AMGEN, Sturlugata 8, IS-101 Reykjavik, 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

Nature Communications, 2013, vol. 4, issue 1, 1-7

Abstract: 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.

Date: 2013
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DOI: 10.1038/ncomms3776

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