Work

Single-base polymorphism of the ACE2 and TNF-alpha genes in patients with the cardiac and indeterminate forms of Chagas disease

Year: 2025

Type: article

Abstract: INTRODUCTION: Chagas Disease (CD) is caused by the protozoan Trypanosoma cruzi and is endemic to 21 Latin American countries. It is estimated that 6 to 7 million people in Latin America are infected. Clinical manifestations occur in two phases, acute and chronic. The chronic phase may present as indeterminate, cardiac, digestive, or mixed. Few studies have investigated why some infected individuals remain asymptomatic, while others develop more severe clinical forms of the disease. The present study aimed to evaluate the frequency of Single Nucleotide Polymorphisms (SNPs) in the ACE2 and TNF-alpha genes in chronic and indeterminate forms of CD and assess their association with clinical data and comorbidities. METHODS: The study included 51 male patients with the indeterminate chronic forms of CD and 22 male patients with cardiac chronic forms of CD. All patients were treated at the HC-FMB/UNESP outpatient clinic. Deoxyribonucleic Acid (DNA) was extracted from blood samples and genotyped using Sanger sequencing and Restriction Fragment Length Polymorphism (RFLP) to analyze the ACE2 rs2074192 and TNF-alpha rs1800629 polymorphisms. RESULTS: Analysis of the ACE2 rs2074192 SNP revealed no significant differences in the frequencies of the Guanine (G) and Adenine (A) alleles. Similarly, analysis of the TNF-alpha rs1800629 SNP revealed no significant differences in the frequencies of the GG, GA, and AA genotypes. CONCLUSION: No significant associations were found between the studied polymorphisms and the clinical forms of CD. However, further studies with larger sample sizes are needed to confirm these findings.

Source: The Brazilian Journal of Infectious Diseases

DOI: 10.1016/j.bjid.2025.104574

Authors: Bruna da Cruz Carvalho, Daniela Filadelfo Sanches, Rodrigo Mattos dos Santos, Simone Baldini Lucheis, Erika Alessandra Pellison Nunes da Costa, Cilmery Suemi Kurokawa

Institution: Universidade Estadual Paulista (Unesp)

Language: English

Topic: Trypanosoma species research and implications

Subfield: Epidemiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,600