Article Type

Original Study


Objective The aim of the study was to investigate the association between methylenetetrahydrofolate reductase gene (MTHFR) C677T single-nucleotide polymorphism (SNP) and colorectal cancer (CRC) in the Egyptian population. Background MTHFR is the most critical enzyme in the folate-metabolizing pathway. Its C677T SNP (rs1801133) is the most important one regulating the function of this enzyme, and it has been linked to many types of cancers, cardiovascular diseases, and neurological diseases. Patients and methods This study was carried out as a collaborative effort between Departments of Medical Biochemistry, General Surgery, and Clinical Oncology and Nuclear Medicine, Faculty of Medicine, Menoufia University, from May 2015 to December 2015. It was conducted on 70 individuals who were classified into the following groups: group I, subdivided into group Ia and group Ib, and group II. Group I included 50 CRC patients (26 men and 24 women); subgroup Ia included 29 CRC patients under 5-fluorouracil chemotherapy, and subgroup Ib included 21 CRC patients without chemotherapeutic treatment (under follow-up). Group II included 20 healthy controls (11 men and nine women). Laboratory investigations included detection of MTHFR gene C677T SNP (rs1801133) by real-time PCR using the TaqMan allelic discrimination assay. Results Results showed that the T/T genotype and the T allele of MTHFR C677T were significantly higher in CRC patients compared with healthy controls (P = 0.01 and 0.009, respectively). Conclusion It was concluded that the T allele of MTHFR C677T increases the risk for developing CRC in the Egyptian population, whereas the C allele appeared to have a protective effect.