Evaluation of the association of ERCC2 rs13181 polymorphism with different types of gliomas in patients in Northeast Brazil

Abstract

Gliomas are the most common primary tumors of the central nervous system with unclear etiology. However, hereditary factors may play an important role in glioma development, with mutations and single nucleotide polymorphisms (SNPs) being prominent among the genetic changes. This study aimed to evaluate the association of the ERCC2 gene rs13181 variant polymorphism between high- and low-grade gliomas in patients from Brazil’s Northeast region. Samples from glioma patients stored in paraffin blocks were used. DNA extraction was performed using the MagMAX™ FFPE DNA/RNA Ultra kit, and for genotyping, the Taqman assay probe C_3145033_10 corresponding to the SNP rs13181 of the ERCC2 gene was selected. Quantitative and categorical variables were analyzed using the t-test and Fisher’s exact test or Chi-square test (p < 0.05). Patients with low-grade gliomas were younger than those with high-grade gliomas (p = 0.003). Statistically significant differences were not observed in the expression of the GG, GT, and TT genotypes between low- and high-grade gliomas. The ERCC2 rs13181 genotypes found were TT, GG, and GT; however, no difference in the expression between different glioma types was observed.