Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Nat Genet. 2012 May 27;44(7):770-6. doi: 10.1038/ng.2293.

Abstract

We performed a meta-analysis of five genome-wide association studies to identify common variants influencing colorectal cancer (CRC) risk comprising 8,682 cases and 9,649 controls. Replication analysis was performed in case-control sets totaling 21,096 cases and 19,555 controls. We identified three new CRC risk loci at 6p21 (rs1321311, near CDKN1A; P = 1.14 × 10(-10)), 11q13.4 (rs3824999, intronic to POLD3; P = 3.65 × 10(-10)) and Xp22.2 (rs5934683, near SHROOM2; P = 7.30 × 10(-10)) This brings the number of independent loci associated with CRC risk to 20 and provides further insight into the genetic architecture of inherited susceptibility to CRC.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Colorectal Neoplasms / genetics*
  • Cyclin-Dependent Kinase Inhibitor p21 / genetics*
  • DNA Polymerase III / genetics*
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study / methods
  • Humans
  • Membrane Proteins / genetics*

Substances

  • CDKN1A protein, human
  • Cyclin-Dependent Kinase Inhibitor p21
  • Membrane Proteins
  • SHROOM2 protein, human
  • POLD3 protein, human
  • DNA Polymerase III