TIRAP (MAL) S180L polymorphism is a common protective factor against developing tuberculosis and systemic lupus erythematosus
TIRAP (MAL) S180L polymorphism is a common protective factor against developing tuberculosis and systemic lupus erythematosus
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DOI：
10.1016/j.meegid.2008.03.001
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发表时间：
2008-09-01
影响因子：
3.2
通讯作者：
Anaya, Juan-Manuel
中科院分区：
文献类型：
--
作者：
Castiblanco, John;Varela, Diana-Cristina;Anaya, Juan-Manuel
背景与目的：已有研究表明Toll样受体(Toll-like Receptor，TLR)介导的信号通路参与了感染和自身免疫。MyD88适配子样蛋白(Mal)，又称TIR结构域适配蛋白(TIRAP)，参与TLR2和TLR4介导的MyD88依赖的信号通路。本研究旨在探讨功能性TIRAP(MAL)S180L基因多态性对肺结核(TB)和四种自身免疫性疾病(类风湿关节炎(RA)、原发性干燥综合征(PSS)、系统性红斑狼疮(SLE)和1型糖尿病(T1D))的影响。结果：Leu-180等位基因对RA无明显影响，但对TB(优势比OR：0.53，95%可信区间(CI)：0.29~0.97)和SLE(OR：0.29，95%CI：0.14~0.61)有保护作用；结论：TIRAP(MAL)S180L基因多态性对结核病的影响，提示TB和SLE在先天免疫应答中可能具有共同的免疫遗传途径。(C)2008爱思唯尔B.V.保留所有权利。
Background and aim: The involvement of Toll-like receptor (TLR)-mediated pathways in infectious and autoimmunity has been suggested. The MyD88 adaptor-like (Mal) protein, also known as the TIR domain-containing adaptor protein (TIRAP), is implicated in the TLR2- and TLR4-mediated MyD88-dependent signaling pathway. The aim of this study was to investigate the influence of the functional TIRAP (MAL) S180L polymorphism on tuberculosis (TB) and four autoimmune diseases namely: rheumatoid arthritis (RA), primary Sjogren's syndrome (pSS), systemic lupus erythematosus (SLE) and type 1 diabetes mellitus (T1D).Methods: This was a case-control and family based association study in which 1325 individuals from a well-defined Colombian population were involved. TIRAP (MAL) S180L genotyping was done by using a polymerase chain reaction-restriction fragment length polymorphism technique and by direct sequencing.Results: Leu 180 allele was found to be a protective factor against developing TB (odd ratio (OR): 0.53, 95% confidence interval (CI): 0.29-0.97) and SLE (OR: 0.29, 95% CI: 0.14-0.61) while no significant influence on RA, pSS and T1D was observed.Conclusion: These results support the influence of TIRAP (MAL) S180L polymorphism on TB and indicate that TB and SLE might share a common immunogenetic pathway in the innate immune response. (C) 2008 Elsevier B.V. All rights reserved.