Toll-like receptor gene polymorphisms are associated with susceptibility to Graves' ophthalmopathy in Taiwan males.
Toll-like receptor gene polymorphisms are associated with susceptibility to Graves' ophthalmopathy in Taiwan males.
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DOI：
10.1186/1471-2350-11-154
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发表时间：
2010-11-05
影响因子：
--
通讯作者：
Tsai FJ
中科院分区：
文献类型：
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作者：
Liao WL;Chen RH;Lin HJ;Liu YH;Chen WC;Tsai Y;Wan L;Tsai FJ
Toll 样受体 (TLR) 是一个模式识别受体家族，在引发先天/适应性免疫反应和发展慢性炎症方面发挥着重要作用。 TLR 的多态性与多种自身免疫性疾病的风险相关，包括系统性红斑狼疮 (SLE)、多发性硬化症和类风湿性关节炎。本研究的目的是评估 TLR 基因是否可以用作格雷夫斯眼病 (GO) 发生的遗传标记。对来自中国台湾人群的 471 名 GD 患者（200 名患有 GO 的患者和 271 名不患有 GO 的患者）的 6 个 TLR-4 和 2 个 TLR-9 基因多态性进行了评估。伴GO与不伴GO的GD患者TLR-4和TLR-9基因多态性的基因型和等位基因频率无统计学差异。然而，性别分层分析显示，TLR-9基因多态性与GO表型之间的关联在男性患者中更为明显。男性患者中，rs187084 AàG 多态性的比值比 (OR) 为 2.11（95% 置信区间 [CI] = 1.14-3.91），rs352140 AàG 多态性的比值比（OR）为 1.97（95% CI = 1.07-3.62）。增加 rs287084 的一个 G 等位基因和 rs352140 的一个 A 等位基因会增加 GO 的风险（趋势检验的 p 值分别为 0.0195 和 0.0345）。此外，在单倍型分析中，携带 GA 单倍型的男性患者比不携带 GA 单倍型的男性患者具有更高的 GO 风险（比值比 [OR] = 2.02，95% 置信区间 [CI] = 1.09-3.73）。目前的数据表明，TLR-9 基因多态性与男性 GD 患者眼病易感性增加显着相关。
Toll-like receptors (TLRs) are a family of pattern-recognition receptors, which plays a role in eliciting innate/adaptive immune responses and developing chronic inflammation. The polymorphisms of TLRs have been associated with the risk of various autoimmune diseases, including systemic lupus erythematosus (SLE), multiple sclerosis and rheumatorid arthritis. The aim of this study was to evaluate whether TLR genes could be used as genetic markers for the development of Graves' ophthalmopathy (GO). 6 TLR-4 and 2 TLR-9 gene polymorphisms in 471 GD patients (200 patients with GO and 271 patients without GO) from a Taiwan Chinese population were evaluated. No statistically significant difference was observed in the genotypic and allelic frequencies of TLR-4 and TLR-9 gene polymorphisms between the GD patients with and without GO. However, sex-stratified analyses showed that the association between TLR-9 gene polymorphism and GO phenotype was more pronounced in the male patients. The odds ratios (ORs) was 2.11 (95% confidence interval [CI] = 1.14-3.91) for rs187084 AàG polymorphism and 1.97 (95% CI = 1.07-3.62) for rs352140 AàG polymorphism among the male patients. Increasing one G allele of rs287084 and one A allele of rs352140 increased the risk of GO (p values for trend tests were 0.0195 and 0.0345, respectively). Further, in haplotype analyses, the male patients carrying the GA haplotype had a higher risk of GO (odds ratio [OR] = 2.02, 95% confidence interval [CI] = 1.09-3.73) than those not carrying the GA haplotype. The present data suggest that TLR-9 gene polymorphisms were significantly associated with increased susceptibility of ophthalmopathy in male GD patients.