A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis

PLoS One. 2016 Jan 11;11(1):e0146435. doi: 10.1371/journal.pone.0146435. eCollection 2016.

Abstract

We tested for germline variants showing association to colon cancer metastasis using a genome-wide association study that compared Ashkenazi Jewish individuals with stage IV metastatic colon cancers versus those with stage I or II non-metastatic colon cancers. In a two-stage study design, we demonstrated significant association to developing metastatic disease for rs60745952, that in Ashkenazi discovery and validation cohorts, respectively, showed an odds ratio (OR) = 2.3 (P = 2.73E-06) and OR = 1.89 (P = 8.05E-04) (exceeding validation threshold of 0.0044). Significant association to metastatic colon cancer was further confirmed by a meta-analysis of rs60745952 in these datasets plus an additional Ashkenazi validation cohort (OR = 1.92; 95% CI: 1.28-2.87), and by a permutation test that demonstrated a significantly longer haplotype surrounding rs60745952 in the stage IV samples. rs60745952, located in an intergenic region on chromosome 4q31.1, and not previously associated with cancer, is, thus, a germline genetic marker for susceptibility to developing colon cancer metastases among Ashkenazi Jews.

Publication types

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

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 4 / genetics*
  • Cohort Studies
  • Colonic Neoplasms / ethnology
  • Colonic Neoplasms / genetics*
  • Colonic Neoplasms / pathology*
  • Female
  • Genetic Predisposition to Disease
  • Genome, Human
  • Genome-Wide Association Study
  • Genotype
  • Germ-Line Mutation*
  • Haplotypes
  • Humans
  • Jews
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Models, Statistical
  • Neoplasm Metastasis / genetics*
  • Neoplasm Metastasis / pathology
  • Odds Ratio
  • Polymorphism, Single Nucleotide