Abstract

Aim The present study investigated single nucleotide polymorphisms (SNPs) in genes of toll-like receptors, NOD-like receptors and CD14 gene in the Brazilian population who developed leprosy per se (N = 200) and compared to healthy contacts (N = 250). Methods The genotyping was performed using PCR-SSP (polymerase chain reaction-sequence-specific primers). Results TLR1 (rs5743618) genotype GG was associated to protection for development of disease: OR = 0.52. TLR2 (rs1816702) genotype CC and allele C were associated to susceptibility (OR = 2.91; 2.27), while the genotype CT and allele T to protection (OR = 0.44; 0.44). Increased frequencies of TLR2 (rs4696483) genotypes CC and TT suggest risk (OR = 1.56; 2.90) for development of disease, while the decreased frequency of CT suggests protection (OR = 0.51). Increased frequencies of TLR4 (rs2149356) genotypes: AA and CA, and allele A suggest risk (OR = 2.48, 2.20, and 2.46, respectively) and genotype CC and allele C suggest protection (OR = 0.51, 0.53) to disease. The frequencies of TLR9 (rs352139) genotype GG and allele G (OR = 0.61, 0.73 suggest risk and genotype AA and allele A protection (OR=2.04, 1.38). The genotype CT of CD14 -260 suggest risk (OR = 5.59) while genotype CC suggest protection (OR= 0.18). The genotype AG for CD14 cod204, suggest risk (OR = 2.53), while the genotype AA suggest protection (OR = 0.40). Statistical differences were observed for the SNP R702W (2104C > T) of NOD2 gene: The genotype CC and allele C suggest protection (OR = 0.40); and to allele T suggest risk, OR = 2.52. Conclusions This study shows that polymorphisms of TLR, NOD2 and CD14 genes act as responsible for triggering an adequate immune response in the context of infection and disease leprosy.

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