Associação do carcinoma epidermóide oral com os polimorfismos MTHFR C677T, MTHFR A1298C e CBS 844ins68 na população do Espírito Santo

Abstract

Oral squamous cell carcinoma (OSCC) is a serious public health problem due to high mortality and rising incidence worldwide. Epidemiological studies suggest that OSCC susceptibility is mediated by interactions between genetic and environmental factors. Environmental factors include smoking, alcohol use and HPV infections. Among genetic factors, it has been observed that certain genetic variants may confer susceptibility to this disease. Studies suggest that genetic variants encoding enzymes involved in folate metabolism may modulate OSCC risk by altering DNA methylation patterns and genomic stability. Polymorphisms C677T and A1298C in the MTHFR gene that encodes the methylenetetrahydrofolate reductase enzyme and the CBS 844ins68 polymorphism in the CBS gene that encodes the Cystathionine beta-synthase enzyme may be associated with oral cancer susceptibility due to changes in catalytic activity.