Screening of 214 single nucleotide polymorphisms in 44 candidate cancer susceptibility genes: a case-control study on gastric and colorectal cancers in the Japanese population

Am J Gastroenterol. 2008 Jun;103(6):1476-87. doi: 10.1111/j.1572-0241.2008.01810.x. Epub 2008 May 22.


Objectives: Single nucleotide polymorphisms (SNPs) have potential as markers for identifying genes responsible for common diseases and for personalized medicine. To investigate the association between polymorphisms and gastrointestinal (gastric and colorectal) cancer, we performed a hospital-based case-control study in Japan.

Methods: We screened a total of 214 SNPs in 44 candidate genes by using a mass spectrometry-based technique (MassARRAY; Sequenom, Inc., San Diego, CA). In this study, 153 patients and 302 controls for gastric cancer and 121 patients and 245 controls for colorectal cancer were matched with regard to age, sex, and residential area. Genes were selected based on their possible interactions with the environment and lifestyle, and the candidate genes constitute those encoding xenobiotic metabolism enzymes, DNA repair enzymes, and other stress-related proteins. Each polymorphism was tested in controls to ensure its fit with Hardy-Weinberg equilibrium. Odds ratios (OR) and 95% confidence intervals (CI) were calculated by conditional logistic regression analysis to estimate the association between genetic polymorphisms and the risk of gastric and colorectal cancers.

Results: Twenty-one SNPs in nine genes were associated with the risk of gastric cancer (P < 0.05) and 15 SNPs in nine genes were associated with the risk of colorectal cancer (P < 0.05).

Conclusions: The findings of the present study will be the basis for future large-scale association studies of gene-environment factors using the candidate gene approach for the Japanese population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics*
  • Asian People / psychology
  • Case-Control Studies
  • Cohort Studies
  • Colorectal Neoplasms / ethnology*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / psychology
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Humans
  • Japan
  • Life Style
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Stomach Neoplasms / ethnology*
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / psychology