Prevalence and association of MTHFR A1298C polymorphism with risk of colorectal cancer in syrian patients

Colorectal cancer is among the top three most prevalent cancers globally. The situation in Syria mirrors the world statistics and colorectal cancer is the third most common cancer in Syria in both males and females. MTHFR gene, also known as 5,10-methylenetetrahydrofolate reductase gene is located on chromosome1.MTHFR is a main enzyme in folate metabolism. The A1298C polymorphism is in exon 7 of MTHFR gene, leads to a glutamate to alanine replacement at codon 429, this polymorphism lies in the C-terminal end of the enzyme. The study aimed to determine the prevalence and association of A1298C polymorphism with risk of colorectal cancer. RT-PCR was used to identify the genotypes. The results showed that 62% of colorectal cancer patients had AA (wild type) genotype, 26% of the patients had AC (heterozygote) and 12% had CC (mutant), while 40% of healthy individuals had AA genotype, 30% had AC and 30% had CC. The analysis revealed no significant association between the A1298C polymorphism and risk of colorectal cancer (P value>0.05).We furtherdetermined the association of each genotype with risk of colon cancer alone and with rectal cancer alone.The analysis demonstratedthat CC genotype is a protective factor against colon cancer (OR=0.140, CI=95%, P value =0.033). However, no association between A1298C and the risk of rectal cancer(P value>0.05) was found.In conclusion, the A1298C polymorphism might be associated with reduced risk of colon cancer. Nevertheless, this genetic polymorphism might have no effect on the risk ofrectal cancer.