AUTHOR=Masin Priscila Saamara , Visentin Hugo Alves , Elpidio Laíse Nayana Sala , Sell Ana Maria , Visentainer Lorena , Lima Neto Quirino Alves De , Zacarias Joana Maira Valentini , Couceiro Patrícia , Higa Shinzato Andressa , Santos Rosa Manuel , Rodrigues-Santos Paulo , Visentainer Jeane Eliete Laguila 

TITLE=Genetic polymorphisms of toll-like receptors in leprosy patients from southern Brazil

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.952219

DOI=10.3389/fgene.2022.952219

ISSN=1664-8021

ABSTRACT=<p>Leprosy is a chronic disease and also a global health issue, with a high number of new cases per year. Toll-like receptors can respond to mycobacterial molecules in the early stage of infection. As important components of the innate immune response, alterations in genes coding for these receptors may contribute to susceptibility/protection against diseases. In this context, we used a case-control study model (183 leprosy cases vs. 185 controls) to investigate whether leprosy patients and the control group, in southern Brazil, have different frequencies in <italic>TLR1</italic> (<italic>TLR1</italic> G&gt;T; rs5743618), <italic>TLR2</italic> (<italic>TLR2</italic> T&gt;C, rs1816702 and rs4696483), and <italic>TLR4</italic> (<italic>TLR4</italic> A&gt;G, rs1927911) polymorphisms. Analysis of the <italic>TLR1</italic> 1805G&gt;T polymorphism presented the <italic>G/G</italic> genotype more frequently in the control group. <italic>TLR2</italic> T&gt;C rs1816702 and <italic>TLR2</italic> T&gt;C rs4696483, the T/T and C/T genotype, respectively, were more frequent in the control group than in leprosy patients, suggesting protection from leprosy when the T allele is present (rs4696483). Haplotype analyses between <italic>TLR1</italic> (rs5743618) and <italic>TLR2</italic> (rs1816702 and rs4696483) polymorphisms suggest risk for the presence of the TCC haplotype and protection in the presence of the TCT haplotype. This study suggests that polymorphisms in <italic>TLR1</italic> and <italic>TLR2</italic> are factors that may contribute to development/resistance of leprosy.</p>