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首页> 外文期刊>International journal of immunogenetics >Association of Nod‐like receptor protein‐1 (rs2670660) and Toll‐like receptor‐4 (rs4986790) with non‐segmental vitiligo: A case–control study in South Indian population
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Association of Nod‐like receptor protein‐1 (rs2670660) and Toll‐like receptor‐4 (rs4986790) with non‐segmental vitiligo: A case–control study in South Indian population

机译：NOD样受体蛋白-1（RS2670660）和Toll样受体-4（RS4986790）与非节段性白癜风（RS4986790）的关联：南印度人群的病例对照研究

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Abstract 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.
机译：摘要非节段性白癜风（NSV）是一种自身免疫性皮肤病。遗传学在疾病发病机制中起主要部分。核苷酸结合和寡聚化结构域（NOOD）的受体和含吡林的蛋白质（NLRP）和Toll样受体（TLR）是在介导先天免疫的模式识别受体。他们参与呈递病原体并介导免疫应答。 NLRP和TLRS参与在各种皮肤病中介导免疫应答。了解NLRP和TLR遗传多态性的影响和免疫稳态相关的TLR可能有助于我们理解NSV的复杂性病因发生。因此，我们旨在研究NLRP-1（RS2670660）和TLR-4（RS4986790）的关联，以及南印度人群中NSV的疾病谱，疾病活动的协同影响。该研究被设计为具有264名患者和264例对照的案例控制遗传学研究。 NLRP-1（RS2670660）和TLR-4（RS4986790）的基因分型由Taqman 5'等位基因辨别测定和ArmS-PCR进行。通过酶联免疫吸附试验（ELISA）测量血浆蛋白水平。用NLRP-1的纯合GGGG基因型的频率观察到统计学上显着的差异（在对照中的5.3％的情况下，17.8％）（p≤0.01;或-3.73; 95％CI-1.94- 7.14）。在38％的病例中，等位基因G在30％的对照中显着频繁（P？= 0.004;或-1.46; 95％CI-1.13-1.89）。与对照相比，患者的血浆NLRP-1水平显着较高（P？β0.05）。在案例中，血浆NLRP-1水平没有显示出与其基因型的任何差异（p？＆ 0.05）。在TLR-4（RS4986790）中，患者与对照之间的基因型和等位基因频率没有显着差异（p？= 0.80）;然而，血浆TLR-4类似于病例和对照（P？＆ 0.05）。基因型对血浆TLR-4的影响表明，GG和祖先基因型AA之间的TLR-4水平没有显着差异，而杂合子Ag基因型与NSV中的AA和GG（P？= 0.02）相比，TLR-4的显着增加案例。所获得的结果表明，NLRP-1（RS2670660），而不是TLR-4（（RS4986790），与南印度人群的NSV风险增加有关。

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