| Literature DB >> 24220699 |
Julius Gudmundsson1, 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, Kari Stefansson.
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, P(combined)=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 (r(2)≤0.02) of the numerous previously reported cancer risk variants at this locus.Entities:
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Year: 2013 PMID： 24220699 DOI： 10.1038/ncomms3776
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919