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
Immunology Institute, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Immunogenetics Laboratory, Department of Basic Health Sciences, Post-Graduation Program in Biosciences and Phisiophatology, Maringá State University, Maringá, PR, Brazil.
Front Genet. 2022 Oct 12;13:952219. doi: 10.3389/fgene.2022.952219. eCollection 2022.
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 ( G>T; rs5743618), ( T>C, rs1816702 and rs4696483), and ( A>G, rs1927911) polymorphisms. Analysis of the 1805G>T polymorphism presented the genotype more frequently in the control group. T>C rs1816702 and T>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 (rs5743618) and (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 and are factors that may contribute to development/resistance of leprosy.
麻风病是一种慢性疾病，也是一个全球健康问题，每年有大量新病例。Toll样受体可在感染早期对分枝杆菌分子作出反应。作为固有免疫反应的重要组成部分，编码这些受体的基因改变可能有助于疾病易感性/抵抗力。在此背景下，我们采用病例对照研究模型（183例麻风病患者与185例对照）来调查巴西南部的麻风病患者和对照组在（G>T；rs5743618）、（T>C，rs1816702和rs4696483）以及（A>G，rs1927911）多态性方面是否存在不同频率。对1805G>T多态性的分析显示对照组中基因型出现频率更高。对于T>C rs1816702和T>C rs4696483，分别是T/T和C/T基因型，在对照组中比在麻风病患者中更常见，表明存在T等位基因（rs4696483）时对麻风病有保护作用。（rs5743618）与（rs1816702和rs4696483）多态性之间的单倍型分析表明，TCC单倍型存在风险，而TCT单倍型存在保护作用。本研究表明，和中的多态性可能是导致麻风病发生/抵抗的因素。
