MTHFD1 c.1958G>A and TCN2 c.776G>C polymorphisms of folate metabolism genes and their implication for oral cavity cancer

Abstract Background Cancers of the head and neck can damage the brain, spinal cord, and nerves, as well as the sense organs responsible for contact with the outside world. Oncogenic transformation occurs following mutations that change the function of specific genes, such tumor suppressor genes or oncogenes, and their encoded protein products. Therefore, the aim of this study was to evaluate the relationship between the occurrence of MTHFD1 c.1958G>A and TCN2 c.776G>C gene polymorphisms and the risk of oral cavity cancer. Materials and methods The study population consisted of 439 patients and 200 healthy subjects. Genomic DNA was extracted from peripheral blood and from paraffin-embedded tissue. Analysis of the gene polymorphisms was performed using polymerase chain reaction–restriction fragment length polymorphism. Results Statistically significant differences were found in the distribution of genotypes of the rs2236225 and rs1801198 polymorphisms between patients and controls. Regarding MTHFD1 c.1958G>A, the GA genotype (p<0.0001, OR = 2.91, 95% CI = 1.88–4.49-GA) was more common among patients than healthy subjects. Regarding TCN2 c.776G>C, the frequency of CC genotype (p< 0.0001, OR = 0.17, 95% CI = 0.10–0.33-CC) was significantly less common among patients than healthy subjects. Tobacco smoking, alcohol use, and male gender (p<0.0001) were found to be predictors of the disease. Conclusion The results suggest that the MTHFD1 c.1958G>A polymorphism may be associated with a greater risk of oral cavity cancer, whereas a protective effect has been found for the TCN2 c.776G>C polymorphism.