Investigation of the colorectal cancer susceptibility region on chromosome 8q24.21 in a large German case-control sample

Int J Cancer. 2009 Jan 1;124(1):75-80. doi: 10.1002/ijc.23872.

Abstract

Human chromosome 8q24.21 has been implicated as a susceptibility region for colorectal cancer (CRC) as a result of genome-wide association and candidate gene studies. To assess the impact of molecular variants at 8q24.21 upon the CRC risk of German individuals and to refine the disease-associated region, a total of 2,713 patients with operated CRC (median age at diagnosis: 63 years) were compared with 2,718 sex-matched control individuals (median age at inclusion: 65 years). Information on microsatellite instability in tumors was available for 901 patients. Association analysis of SNPs rs10505477 and rs6983267 yielded allelic p-values of 1.42 x 10(-7) and 2.57 x 10(-7), respectively. For both polymorphisms, the odds ratio was estimated to be 1.50 (95% CI: 1.29-1.75) under a recessive disease model. The strongest candidate interval, outside of which significance dropped by more than 4 orders of magnitude, was delineated by SNPs rs10505477 and rs7014346 and comprised 17 kb. In a subgroup analysis, the disease association was found to be more pronounced in MSI-stable tumors (odds ratio: 1.71). Our study confirms the role of genetic variation at 8q24.21 as a risk factor for CRC and localizes the corresponding susceptibility gene to a 17 kb candidate region.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Chromosomes, Human, Pair 8*
  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / epidemiology*
  • Colorectal Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Germany
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Polymorphism, Single Nucleotide