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

• Published in: Nature Communications
• Main Authors: Gudmundsson, Julius, Sulem, Patrick, Gudbjartsson, Daniel F, Masson, Gisli, Petursdottir, Vigdis, Hardarson, Sverrir, Gudjonsson, Sigurjon A, Johannsdottir, Hrefna, Helgadottir, Hafdis Th, Stacey, Simon N, Magnusson, Olafur Th, Helgason, Hannes, Panadero, Angeles, van der Zanden, Loes F, Aben, Katja K H, Vermeulen, Sita H, Oosterwijk, Egbert, Kong, Augustine, Mayordomo, Jose I, Sverrisdottir, Asgerdur, Jonsson, Eirikur, Gudbjartsson, Tomas, Einarsson, Gudmundur V, Kiemeney, Lambertus A, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Stefansson, Kari
• Other Authors: DeCODE Genet Inc AMGEN, IS-101 Reykjavik, Iceland, Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland, Ciudad Coria Hosp, Div Med Oncolol, Coria 10800, Spain, Radboud Univ Nijmegen Med Ctr, Dept Hlth Evidence, NL-6500 HB Nijmegen, Netherlands, Comprehens Canc Ctr Netherlands, Dept Canc Registry & Res, NL-3501 DB Utrecht, Netherlands, Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands, Radboud Univ Nijmegen Med Ctr, Dept Urol, NL-6500 HB Nijmegen, Netherlands, Univ Zaragoza, Div Med Oncol, E-50009 Zaragoza, Spain, Landspitali Univ Hosp, Dept Oncol, IS-101 Reykjavik, Iceland, Landspitali Univ Hosp, Dept Urol, IS-101 Reykjavik, Iceland, Landspitali Univ Hosp, Dept Surg, IS-101 Reykjavik, Iceland, Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Publishing Group 2014
• Subjects: Nýru; Krabbamein; Erfðagreining; Aged; Carcinoma; Renal Cell; Computational Biology; Gene Expression Regulation; Neoplastic; Genetic Predisposition to Disease; Genome; Human; Genotype; Humans; Iceland; Kidney Neoplasms; Odds Ratio; Polymorphism; Single Nucleotide; Risk Factors
• Online Access: http://hdl.handle.net/2336/322298; https://doi.org/10.1038/ncomms3776

To access publisher's full text version of this article click on the hyperlink at the bottom of the page 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. info:eu-repo/grantAgreement/EC/FP7/259939