Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.

Journal article

Although genome-wide association studies (GWAS) have identified the existence of numerous population-based cancer susceptibility loci, mechanistic insights remain limited, particularly for intergenic polymorphisms. Here, we show that polymorphism at a remote intergenic region on chromosome 11q13.3, recently identified as a susceptibility locus for renal cell carcinoma, modulates the binding and function of hypoxia-inducible factor (HIF) at a previously unrecognized transcriptional enhancer of...

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Authors: Schödel, J; Bardella, C; Sciesielski, L; Brown, J; Pugh, C

• Publication status: Published
• Journal: Nature genetics
• Volume: 44
• Issue: 4
• Pages: 420-S2
• Publication date: 2012-04-01
• DOI: 10.1038/ng.2204
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Cell Hypoxia; Enhancer Elements, Genetic; Molecular Sequence Data; Von Hippel-Lindau Tumor Suppressor Protein; Cell Cycle Checkpoints; Gene Expression Regulation, Neoplastic; Cyclin D1; Hypoxia-Inducible Factor 1; Humans; Genetic Predisposition to Disease; Kidney Neoplasms; Polymorphism, Single Nucleotide; Genetic Variation; Cell Line, Tumor; Chromosomes, Human, Pair 11