Effects of amino acid substitution polymorphisms of two DNA methyltransferases on susceptibility to sporadic colorectal cancer

Asian Pac J Cancer Prev. 2009;10(6):1183-8.

Abstract

Background and aim: The present study was designed to consider whether amino acid substitution polymorphisms in O6-methylguanine-DNA methyltransferase (MGMT) and DNA methyl transferase 1 (DNMT1) genes may be associated with the genetic susceptibility to sporadic colorectal cancer.

Patients and methods: We assessed eight non-synonymous polymorphisms of these two genes by PCR/pyrosequencing. Our population consisted of 208 individuals with sporadic colorectal cancer and 213 controls. Allele frequencies and genotypes were compared between the two groups.

Results: The calculated odds ratios indicated no association between DNMT1 and colorectal cancer. However, there was a significant association between two polymorphisms in MGMT with sporadic colorectal cancer: Arg128Gln (OR, 5.53; 95% CI) and Gly160Arg (OR, 3.04; 95% CI).

Conclusions: These findings could be indicative of factors contributing to high occurrence of Iranian colorectal cancer patients.

MeSH terms

  • Adult
  • Amino Acid Substitution*
  • Case-Control Studies
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • DNA Modification Methylases / genetics*
  • DNA Repair Enzymes / genetics*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Iran / epidemiology
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Repressor Proteins / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • DMAP1 protein, human
  • Repressor Proteins
  • Tumor Suppressor Proteins
  • DNA Modification Methylases
  • MGMT protein, human
  • DNA Repair Enzymes