Polymorphism rs8057341 in the NOD2 gene and its clinical-laboratory association with visceral leishmaniasis

Abstract

Visceral leishmaniasis (VL) is a chronic and debilitating disease with high lethality, characterized by diverse clinical and epidemiological features. Among these, the parasite-host relationship is known to influence disease progression, which can be affected by single nucleotide polymorphisms (SNPs) in genes associated with the immune response. The objective of this study was to evaluate the SNP rs8057341 in the NOD2 gene and its clinical-laboratory association with VL. For this purpose, patients diagnosed with VL (n = 28) were studied. The SNP rs8057341 in the NOD2 gene was genotyped using real-time PCR, and patient data were collected from medical records. Our results showed no association between genotypes and the main symptoms of the disease. However, regarding disease severity, most patients had a severe condition (n = 21), a factor influenced by the AG (p = 0.0455) and GG (p = 0.0110) genotypes, compared to the AA genotype. Based on these findings, we hypothesize that the AA genotype of rs8057341 in the NOD2 gene is associated with susceptibility to L. infantum, possibly by impairing the antiparasitic immune response involved in disease control, with probable modulation of IL-17. However, because it may promote a less intense inflammatory response, it could be associated with milder disease manifestations.