The Correlation Of Mthfr Gene Single Nucleotide Polymorphisms And Sporadic Breast Cancer Research

Objective:To investigate the relation between C677T and G1793A site SNPs (Single nucleotide polymorphisms) of methylenetetrahydrofolate reductase (MTHFR) gene and the susceptibility of sporadic breast cancer.Methods:The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to analyze the SNPs of MTHFR C677T and G1793A in200breast cancer patients and200control volunteers, and the logistic regression analysis was performed to investigate the association between different genotypes and susceptibility of breast cancer.Results:The frequency of MTHFR677TT genotype in the breast cancer group was25.00%, which was significantly higher than10.50%in the controls (χ2=14.401, P=0.001); The frequency of MTHFR677CT genotype was44.50%, which was lower than54.50%in the controls; the frequency of MTHFR677CC genotype was similar in both the cases and the controls; and the frequency of MTHFR1793GA genotype was18.50%, which was evidently higher than8.50%in the controls (x2=8.563, P=0.003). The allele frequencies of MTHFR677T and1793A in the breast cancer patients were47.25%and9.25%, respectively, which were significantly greater than37.75%and4.25%in the controls. For MTHFR C677T, the MTHFR677TT genotype was found to be at a significant2.732-fold increased risk of developing breast cancer (95%CI:1.418～5.051, P=0.001), compared with that in the referent group carrying the MTHFR677CC genotype. For MTHFR G1793A, the MTHFR1793GA genotype was found to be at a significant2.444-fold increased risk of developing breast cancer (95%CI:1.325～4.505,P=0.004), compared with the referent group carrying the MTHFR1793GG genotype. And the G1793A polymorphism had a combined effect with the C677Tpolymorphism. Besides, the polymorphism of MTHFR C677T gene in the breast cancer group was associated with the tumor size (x2=7.431, P=0.024), while the polymorphism of MTHFR G1793A gene was associated with lymph node metastasis (χ2=8.939, P=0.011) and cancer histological grading (x2=9.983, P=0.007).Conclusions:The polymorphism of MTHFR genes C677T and G1793A is correlated with the susceptibility of sporadic breast cancer.