Genetic polymorphisms in TNFA/TNFR2 genes and Chagas disease in a Colombian endemic population

► About 15–30% of individuals infected by Trypanosoma cruzi develop clinical symptoms. ► Chagas’ disease is characterized by heart inflammation and dysfunction. ► We studied the association of genetic variants of TNFA and TNFR2 in Chagas’ disease. ► TNFA -1031C and -308A alleles are associated with chagasic cardiomyopathy. In this study we investigated the association of functional single nucleotide polymorphisms of tumor necrosis factor-alfa (TNFA) and TNF receptor 2 (TNFR2) genes in determining the susceptibility to Chagas’ disease. This study included 313 patients from Colombia serologically positive for Trypanosoma cruzi antigens (cardiomyopathic, N=159; asymptomatic, N=154). Genotypes were determined by polymerase chain reaction (PCR)-restriction fragment length polymorphism method. We found a significant difference in the distribution of the TNFA -1031C (p=0.0153, OR=1.69, CI=1.10–2.58) and -308A (p=0.0002, OR=2.60, CI=1.53–4.39) alleles between cardiomyopathic and asymptomatic subjects. In addition, we observed that the TNFR2 +676T allele was monomorphic in our population. Our results suggest that TNFA -1031C and -308A gene polymorphisms may influence the susceptibility to develop chagasic cardiomyopathy in the population under study.