Vitiligo is a common pigmentary disorder in which autoimmunity has been suggested to play an important role. Toll-like receptor (TLR) family are recognized different molecular structures expressed on immune cells and have been implicated in a number of autoimmune diseases (AIDs) such as vitiligo. The purpose of this study was to investigate the possible association between TLR4 gene polymorphisms: rs11536858, rs1927911, rs1927914 in Egyptian vitiligo patients and their clinical data, their response to therapy. Using PCR-RFLP for TLR4 gene polymorphisms (rs11536858, rs1927911, and rs1927914), both alleles and genotypes were determined after extraction of DNA in a case-control study of 100 vitiligo Egyptian patients and 100 matched age and sex controls. The distribution of the protective CT genotype of rs1927914 was higher in the control group. After dividing both patients and controls into 2 age groups (below 18 and above 18 years), no significant associations between the genotypes of the selected TLR4 SNPs and the demographic and clinical data of the vitiligo patients in group 1 (below 18 years) were observed. For group 2 (above 18 years), also no significant associations were found except for the association between the CC genotype of rs1927914 and psychiatric trauma, from one side, and between the CT genotype of rs1927911 and alopecia, from the other side. The association between combined genotypes and the risk of vitiligo showed either higher frequency in patients (risky), or controls (protective), and some equal frequencies (non-significant). The association between haplotypes and risk of vitiligo in patients’ group revealed the highest frequency for the risky ATT and the least frequency for ATC haplotypes. In control group, the protective GCT haplotype showed the highest frequency while the GTC and GCC showed the least frequency. No significant correlations of haplotypes with clinical and demographic data of selected patients’ group were observed apart from that between ACC haplotype and family history of AIDs and between ATT haplotype and remission after phototherapy. The significant relationship between TLR4 gene polymorphisms and vitiligo patients charcteristics clarify the role of innate immunity in pathogensis of vitiligo and its effect on the used therapies.

中文翻译：

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埃及白癜风患者的 TLR4 基因多态性：洞察与临床活动、家族史和治疗反应的新兴关联

白癜风是一种常见的色素性疾病，已建议自身免疫在其中发挥重要作用。Toll 样受体 (TLR) 家族被识别为表达在免疫细胞上的不同分子结构，并且与许多自身免疫性疾病 (AID) 有关联，例如白癜风。本研究的目的是调查埃及白癜风患者的 TLR4 基因多态性：rs11536858、rs1927911、rs1927914 与其临床数据、对治疗的反应之间可能的关联。使用 PCR-RFLP 检测 TLR4 基因多态性（rs11536858、rs1927911 和 rs1927914），在对 100 名埃及白癜风患者和 100 名年龄和性别匹配的对照研究中提取 DNA 后，确定了等位基因和基因型。rs1927914的保护性CT基因型在对照组中的分布较高。将患者和对照组分为 2 个年龄组（18 岁以下和 18 岁以上）后，未观察到所选 TLR4 SNP 的基因型与第 1 组（18 岁以下）白癜风患者的人口统计学和临床​​数据之间存在显着关联. 对于第 2 组（18 岁以上），除了 rs1927914 的 CC 基因型与精神创伤之间的关联，从一侧以及 rs1927911 的 CT 基因型与脱发之间的关联之外，也没有发现显着关联。组合基因型与白癜风风险之间的关联显示出患者（风险）或对照（保护性）的频率更高，以及一些相等的频率（不显着）。患者组中单倍型与白癜风风险之间的关联显示风险 ATT 的频率最高，而 ATC 单倍型的频率最低。在对照组中，保护性GCT单倍型频率最高，而GTC和GCC频率最低。除了 ACC 单倍型与 AID 家族史之间以及 ATT 单倍型与光疗后缓解之间的关系外，未观察到单倍型与所选患者组的临床和人口统计学数据之间存在显着相关性。TLR4基因多态性与白癜风患者特征之间的显着关系阐明了先天免疫在白癜风发病机制中的作用及其对所用疗法的影响。保护性 GCT 单倍型频率最高，而 GTC 和 GCC 频率最低。除了 ACC 单倍型与 AID 家族史之间以及 ATT 单倍型与光疗后缓解之间的关系外，未观察到单倍型与所选患者组的临床和人口统计学数据之间存在显着相关性。TLR4基因多态性与白癜风患者特征之间的显着关系阐明了先天免疫在白癜风发病机制中的作用及其对所用疗法的影响。保护性 GCT 单倍型频率最高，而 GTC 和 GCC 频率最低。除了 ACC 单倍型与 AID 家族史之间以及 ATT 单倍型与光疗后缓解之间的关系外，未观察到单倍型与所选患者组的临床和人口统计学数据之间存在显着相关性。TLR4基因多态性与白癜风患者特征之间的显着关系阐明了先天免疫在白癜风发病机制中的作用及其对所用疗法的影响。