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日本患者 Toll 样受体 7 基因多态性与 Behçet 病的关联分析。

Association analysis of Toll-like receptor 7 gene polymorphisms and Behçet's disease in Japanese patients.

机构信息

Department of Ophthalmology and Visual Science, Yokohama City University, Graduate School of Medicine, Kanagawa, Japan.

出版信息

Hum Immunol. 2011 Mar;72(3):269-72. doi: 10.1016/j.humimm.2010.12.007. Epub 2010 Dec 14.

DOI:10.1016/j.humimm.2010.12.007
PMID:21167247
Abstract

Action of Toll-like receptors (TLRs) is deeply associated with defense mechanisms of the innate and adaptive immune responses to microbial pathogens. There have been reports of genetic polymorphisms within the TLR7 gene being closely related to a variety of inflammatory and infectious diseases. Behçet's disease (BD) is an autoinflammatory disease, and the pathogenesis has yet to be fully discovered. We investigated whether polymorphisms of Toll-like receptor 7 (TLR7) are associated with BD by analyzing the frequency of eight single nucleotide polymorphisms (SNPs) within 200 Japanese BD patients and 102 randomized controls. We genotyped nine SNPs in the TLR7 gene and assessed the allele/genotype diversity between cases and controls for all SNPs. In all eight SNPs, statistically significant differences were not observed between cases and controls.

摘要

Toll-like 受体 (TLRs) 的作用与先天和适应性免疫反应对微生物病原体的防御机制密切相关。有报道称 TLR7 基因内的遗传多态性与多种炎症和感染性疾病密切相关。贝赫切特病 (BD) 是一种自身炎症性疾病,其发病机制尚未完全发现。我们通过分析 200 名日本 BD 患者和 102 名随机对照者中 8 个单核苷酸多态性 (SNP) 的频率,研究了 Toll 样受体 7 (TLR7) 多态性是否与 BD 有关。我们对 TLR7 基因中的 9 个 SNP 进行了基因分型,并评估了所有 SNP 中病例和对照组之间的等位基因/基因型多样性。在所有 8 个 SNP 中,病例和对照组之间均未观察到统计学显著差异。

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