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

Nat Genet. 2012 Mar 11;44(4):420-5, S1-2. doi: 10.1038/ng.2204.

Abstract

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 CCND1 (encoding cyclin D1) that is specific for renal cancers characterized by inactivation of the von Hippel-Lindau tumor suppressor (pVHL). The protective haplotype impairs binding of HIF-2, resulting in an allelic imbalance in cyclin D1 expression, thus affecting a link between hypoxia pathways and cell cycle control.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Checkpoints / genetics
  • Cell Hypoxia
  • Cell Line, Tumor
  • Chromosomes, Human, Pair 11 / genetics
  • Cyclin D1 / biosynthesis
  • Cyclin D1 / genetics*
  • Enhancer Elements, Genetic*
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Humans
  • Hypoxia-Inducible Factor 1 / metabolism*
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / metabolism
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide
  • Von Hippel-Lindau Tumor Suppressor Protein / genetics
  • Von Hippel-Lindau Tumor Suppressor Protein / metabolism

Substances

  • CCND1 protein, human
  • Hypoxia-Inducible Factor 1
  • Cyclin D1
  • Von Hippel-Lindau Tumor Suppressor Protein

Associated data

  • GEO/GSE28352
  • GEO/GSE34871