Instituto Federal de Educação, Ciência e Tecnologia do Norte de Minas Gerais, IFNMG, Almenara, Minas Gerais, Brasil.
Instituto René Rachou, Fiocruz Minas, Belo Horizonte, Minas Gerais, Brasil.
PLoS One. 2018 Oct 5;13(10):e0205234. doi: 10.1371/journal.pone.0205234. eCollection 2018.
Leprosy is an infectious disease with a complex genetic and immunological background. Polymorphisms in genes that encode cytokines and receptors involved in the immune response, such as the Toll-like receptor 1 (TLR1), may be associated with disease risk. We hypothesized that polymorphisms in innate immunity genes confer susceptibility to leprosy that differs between women and men. In this study, we investigate sex differences in the association between a single nucleotide polymorphism (SNP) in TLR1 and Nucleotide-binding oligomerization domain containing 2 (NOD2) genes and leprosy susceptibility in 256 clinically classified leprosy patients and 233 control subjects in a Brazilian population. Our results showed no association between the SNP rs8057341 in NOD2 and leprosy in this population. However, the heterozygous genotype of the TLR1 SNP (rs4833095) showed a statistically significant association in women (OR = 0.54, P = 0.02). Our findings suggest that the TLR1 polymorphism was associated with an increased protection from leprosy in women.
麻风病是一种具有复杂遗传和免疫背景的传染病。编码细胞因子和免疫反应受体（如 Toll 样受体 1（TLR1））的基因中的多态性可能与疾病风险相关。我们假设先天免疫基因中的多态性赋予了麻风病易感性，而这种易感性在女性和男性之间存在差异。在这项研究中，我们研究了巴西人群中 TLR1 和核苷酸结合寡聚化结构域包含蛋白 2（NOD2）基因中单个核苷酸多态性（SNP）与麻风病易感性之间的关联在 256 名临床分类麻风病患者和 233 名对照中的性别差异。我们的结果表明，该人群中 NOD2 中的 SNP rs8057341 与麻风病之间没有关联。然而，TLR1 SNP（rs4833095）的杂合基因型在女性中表现出统计学上显著的相关性（OR = 0.54，P = 0.02）。我们的研究结果表明，TLR1 多态性与女性对麻风病的保护作用增加有关。
