Association between polymorphism of MTHFR gene and non-familial colorectal cancer

ABSTRACT

Colorectal cancer is one of the most common malignancies in worldwide. Because the gene 5, 10-methylene-tetrahydrofolate reductase [MTHFR] plays a key role in methylation, synthesis and repair of DNA, numerous studies have focused on evaluating the correlation between polymorphisms of this gene and sporadic colorectal cancer. This study was carried out to examine the association of MTHFR gene polymorphism, C677T, with non-familial colorectal cancer in an Iranian population. We analyzed peripheral blood samples of 118 cases of colorectal cancer and 189 controls by pyrosequencing method. Controls were subjects who had been referred to our center during the study period and had revealed normal findings on colonoscopy. We found that frequency of CC, CT and TT genotypes among the colorectal cancer patients were 51.7%, 28% and 20.3% respectively. The figures for controls were 47.1%, 27% and 25.9% respectively. Furthermore, allele frequency T in the cases was 34% and allele frequency C was 66% while allele frequency T in controls was 39% and allele frequency C was 61%. Interestingly we observed a reverse association between risk of colon cancer with 677TT genotype