车里雅宾斯克地区俄罗斯人非特异性溃疡性结肠炎和肠易激综合征易感性toll样2和6受体遗传多态性的比较评估

D. Stashkevich, S. Belyaeva, A. V. Evdokimov
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引用次数: 0

摘要

溃疡性结肠炎和肠易激综合征是具有遗传易感性的多因素疾病。最近的研究表明,粘膜免疫激活、肠道通透性增加和宿主-微生物群相互作用的改变可能调节先天免疫反应,从而有助于这些疾病的免疫发病机制。toll样受体(TLR)被认为在遗传易感性中起主要作用。toll样受体活性的调节机制由单核苷酸基因多态性(snp)代表,从而产生具有不同生物学效应的等位基因。在所有已知的tlr中,TLR2是研究最活跃的。TLR2基因位于4号染色体的长臂上,含有导致TLR2蛋白中精氨酸取代谷氨酰胺(Arg753Gln)的遗传变异。同时,研究最多的TLR6 SNP位于C745T位置,导致蛋白中Pro249Ser氨基酸取代。本研究旨在分析车里雅宾斯克地区俄罗斯人的TLR2和TLR6 snp的等位基因分布、基因型和单倍型组合,以及它们与溃疡性结肠炎和肠易激综合征易感性的关系。本研究采用全血DNA样本分离,电泳检测结合PCR对研究基因多态性进行基因分型。用Arlequin ver 3.5软件计算SNPs TLR2 TLR6形成的双位点单倍型的频率。使用标准免疫遗传学标准对两个人群样本进行UC和IBS易感性的比较。差异的显著性为p 0.05。结果:数据分析显示,特定等位基因和基因型与所研究疾病的易感性相关,而TLR2 TLR6单倍型与易感性无关。TLR2的Arg753Gln基因多态性被证明与溃疡性结肠炎的易感性有关,而SNP Pro249Ser TLR6与车里雅宾斯克地区俄罗斯人肠易激综合征的易感性相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Comparative assessment of genetic polymorphism of Toll-like 2 and 6 receptors predisposing for non-specific ulcerative colitis and irritable bowel syndrome in Russians from Chelyabinsk Region
Ulcerative colitis and irritable bowel syndrome are multifactorial disorders with genetic predisposition. Recent studies suggest that the mucosal immune activation, increased intestinal permeability, and altered host-microbiota interactions may modulate innate immune response, thus contributing to immunopathogenesis of these diseases. Toll-like receptors (TLR) are considered to play the main role in genetic susceptibility to the conditions. The mechanisms for regulating activity of Toll-like receptors are represented by single-nucleotide gene polymorphisms (SNPs), thus producing allelotypes with different biological effects. Among all known TLRs, TLR2 is the most actively studied. The TLR2 gene is located on the long arm of the chromosome 4 and contains the genetic variant leading to the substitution of arginine for glutamine (Arg753Gln) in TLR2 protein. Meanwhile, the most studied SNP of TLR6 is located at the C745T position causing Pro249Ser amino acid substitution in the protein. The present work aimed for analysis of distribution of alleles, genotypes and haplotype combinations of the TLR2 and TLR6 SNPs, and their associations with predisposal for ulcerative colitis and irritable bowel syndrome in Russians from Chelyabinsk Region. The following methods were used in the study: isolation of DNA samples from whole blood, genotyping of the studied gene polymorphisms using PCR with electrophoretic detection. The frequencies of two-locus haplotypes formed by SNPs TLR2 TLR6 were calculated with Arlequin ver 3.5 software. Comparison of two populational samples for predisposition to UC and IBS was carried out using standard immunogenetic criteria. Significance of differences was set at p 0.05. Results: Analysis of the data showed the association of specific alleles and genotypes, but not TLR2 TLR6 haplotypes, with predisposition to the studied diseases. The Arg753Gln gene polymorphism of TLR2 was shown to be significant for a predisposition to ulcerative colitis, and SNP Pro249Ser TLR6 is associated with susceptibility to irritable bowel syndrome in Russians from the Chelyabinsk Region.
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