Non‐segmental vitiligo (NSV) is an autoimmune skin disease. Genetics plays a predominant part in disease pathogenesis. Nucleotide‐binding and oligomerization domain (NOD)‐like receptors and pyrin‐containing protein (NLRP) and Toll‐like receptors (TLR) are pattern recognition receptors in mediating innate immunity. They participate in presenting pathogens and mediating the immune responses. NLRP and TLRs are involved in mediating immune response in various dermatological diseases. Understanding the influence of genetic polymorphisms of NLRP and TLRs associated with immune homeostasis might help us to understand the complex etiopathogenesis of NSV. Thus, we aimed to study the association of NLRP‐1 (rs2670660) and TLR‐4 (rs4986790) and the synergistic effects on disease spectrum, disease activity of NSV in South Indian population. This research was designed as a case–control genetic study with 264 patients and 264 controls. Genotyping of NLRP‐1 (rs2670660) and TLR‐4 (rs4986790) was performed by Taqman 5’ allele discrimination assay and ARMS‐PCR. Plasma levels of proteins were measured by enzyme‐linked immunosorbent assay (ELISA). A statistically significant difference was observed with the frequency of homozygous GG genotype of NLRP‐1 (rs2670660) (17.8% in cases vs. 5.3% in controls) (p < 0.0001; OR‐3.73; 95% CI‐1.94–7.14). Allele G was significantly frequent in 38% of the cases than in controls with 30% (p = 0.004; OR‐1.46; 95% CI‐1.13–1.89). Plasma NLRP‐1 level was significantly higher in patients compared to controls (p < 0.05). Amongst cases, the plasma NLRP‐1 levels did not show any difference with respect to their genotypes (p > 0.05). In TLR‐4 (rs4986790), no significant difference in the frequency of genotypes and allele between cases and controls (p = 0.80) was observed; nevertheless, plasma TLR‐4 was analogous between cases and controls (p > 0.05). Influence of genotype on plasma TLR‐4 showed no significant difference in TLR‐4 levels between GG and ancestral genotype AA, whilst heterozygous AG genotype showed a significant increase of TLR‐4 compared to AA and GG (p = 0.02) amongst NSV cases. The obtained results suggest that NLRP‐1 (rs2670660), and not TLR‐4 ((rs4986790), is associated with increased risk of NSV in South Indian population.

中文翻译：

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Nod 样受体蛋白 1 (rs2670660) 和 Toll 样受体 4 (rs4986790) 与非节段性白癜风的关联：南印度人群的病例对照研究

非节段性白癜风（NSV）是一种自身免疫性皮肤病。遗传学在疾病的发病机制中起主要作用。核苷酸结合和寡聚化结构域 (NOD) 样受体和含吡喃蛋白 (NLRP) 和 Toll 样受体 (TLR) 是介导先天免疫的模式识别受体。它们参与呈递病原体和介导免疫反应。NLRP 和 TLRs 参与介导各种皮肤病的免疫反应。了解与免疫稳态相关的 NLRP 和 TLR 的遗传多态性的影响可能有助于我们了解 NSV 的复杂发病机制。因此，我们旨在研究 NLRP-1 (rs2670660) 和 TLR-4 (rs4986790) 的关联以及对南印度人群 NSV 疾病谱、疾病活动性的协同作用。本研究设计为病例对照遗传研究，涉及 264 名患者和 264 名对照。NLRP-1 (rs2670660) 和 TLR-4 (rs4986790) 的基因分型通过 Taqman 5' 等位基因鉴别试验和 ARMS-PCR 进行。通过酶联免疫吸附试验 (ELISA) 测量血浆蛋白质水平。观察到 NLRP-1 纯合 GG 基因型频率 (rs2670660) 的统计学显着差异（病例为 17.8%，对照组为 5.3%）（p < 0.0001；OR-3.73；95% CI-1.94-7.14）。等位基因 G 在 38% 的病例中比在对照组中的 30% 显着频繁（p = 0.004；OR-1.46；95% CI-1.13-1.89）。与对照组相比，患者的血浆 NLRP-1 水平显着更高（p < 0.05）。在这些病例中，血浆 NLRP-1 水平在基因型方面没有显示任何差异（p > 0.05）。在 TLR-4 (rs4986790) 中，未观察到病例和对照之间基因型和等位基因频率的显着差异（p = 0.80）；然而，血浆 TLR-4 在病例和对照之间是相似的（p > 0.05）。基因型对血浆 TLR-4 的影响显示 GG 和祖先基因型 AA 之间的 TLR-4 水平没有显着差异，而在 NSV 病例中，杂合 AG 基因型与 AA 和 GG 相比显示出 TLR-4 显着增加（p = 0.02）。获得的结果表明 NLRP-1 (rs2670660) 而不是 TLR-4 ((rs4986790)，与南印度人群的 NSV 风险增加有关。基因型对血浆 TLR-4 的影响显示 GG 和祖先基因型 AA 之间的 TLR-4 水平没有显着差异，而在 NSV 病例中，杂合 AG 基因型与 AA 和 GG 相比显示出 TLR-4 显着增加（p = 0.02）。获得的结果表明 NLRP-1 (rs2670660) 而不是 TLR-4 ((rs4986790)，与南印度人群的 NSV 风险增加有关。基因型对血浆 TLR-4 的影响显示 GG 和祖先基因型 AA 之间的 TLR-4 水平没有显着差异，而在 NSV 病例中，杂合 AG 基因型与 AA 和 GG 相比显示出 TLR-4 显着增加（p = 0.02）。获得的结果表明 NLRP-1 (rs2670660) 而不是 TLR-4 ((rs4986790)，与南印度人群的 NSV 风险增加有关。