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Genetic Polymorphisms of and as Susceptibility Factors for the Development of Ankylosing Spondylitis and Psoriatic Arthritis.和基因多态性与强直性脊柱炎和银屑病关节炎发病的易感性因素。
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2
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3
The Role of Toll-Like Receptors in Autoimmune Diseases through Failure of the Self-Recognition Mechanism.Toll样受体在自身免疫性疾病中通过自身识别机制失效所起的作用。
Int J Inflam. 2017;2017:8391230. doi: 10.1155/2017/8391230. Epub 2017 May 3.
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TLR9 基因 C/T(rs352140)多态性与成人原发性免疫性血小板减少症。

Toll-Like Receptor 9 (TLR9) Gene C/T (rs352140) Polymorphisms in Adult Primary Immune Thrombocytopenia.

机构信息

Hematology Unit, Internal Medicine Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt.

Hematology Hospital, Almaady Military Compound, Cairo, Egypt.

出版信息

Clin Appl Thromb Hemost. 2020 Jan-Dec;26:1076029620940050. doi: 10.1177/1076029620940050.

DOI:10.1177/1076029620940050
PMID:32729323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7394025/
Abstract

Immune thrombocytopenia (ITP) is an autoimmune disease characterized by low platelet count and increased bleeding risk. The initial event(s) leading to antiplatelet autoimmunity remains unclear. Toll-like receptors (TLRs) are the most well-characterized pattern recognition receptors and are a transmembrane protein coded by the Toll genes family. In addition to their protective role in immunity, it is also becoming clear that TLRs exhibit homeostatic roles. Toll-like receptors play potential roles in the development of disease and its maintenance. The objective of this study is to evaluate the distribution of TLR9 gene C/T (rs352140) polymorphisms and its possible association with clinicopathological finding in Egyptian adult primary ITP. This study was carried out at Internal Medicine Department, Menoufia University Hospital, Egypt, from August 2018 to January 2020. Eighty adults (≥ 18 years) were enrolled in the study; 40 patients with primary ITP and 40 healthy individuals as controls. Identification of the TLR9 C/T (rs352140) polymorphic variant was performed by polymerase chain reaction-restriction fragment length polymorphism. In our study, we excluded any other causes of secondary ITP. Distribution of the TLR9 C/T genotypes did not exhibit significant deviation between patients and controls. There was no significant difference between studied groups as regards allele (C and T) frequency. There was no significant difference regarding TLR9 gene C/T (rs352140) polymorphisms between Egyptian adult with primary ITP and controls. TLR9 gene C/T (rs352140) polymorphisms have no relation to any of the clinicohematological variables in primary ITP in Egyptians.

摘要

免疫性血小板减少症(ITP)是一种自身免疫性疾病,其特征为血小板计数降低和出血风险增加。导致抗血小板自身免疫的初始事件尚不清楚。Toll 样受体(TLR)是最具特征的模式识别受体,是 Toll 基因家族编码的跨膜蛋白。除了在免疫中具有保护作用外,TLR 还具有稳态作用这一点也越来越明显。TLR 在疾病的发生和维持中发挥潜在作用。本研究旨在评估 TLR9 基因 C/T(rs352140)多态性的分布及其与埃及成人原发性 ITP 临床病理发现的可能关联。该研究于 2018 年 8 月至 2020 年 1 月在埃及 Menoufia 大学医院内科进行。研究纳入了 80 名成年人(≥18 岁);40 例原发性 ITP 患者和 40 名健康个体作为对照。通过聚合酶链反应-限制性片段长度多态性检测 TLR9 C/T(rs352140)多态性变异体的鉴定。在我们的研究中,我们排除了继发性 ITP 的任何其他原因。TLR9 C/T 基因型的分布在患者和对照组之间没有显著偏差。两组之间在等位基因(C 和 T)频率方面没有显著差异。在埃及成年原发性 ITP 患者和对照组之间,TLR9 基因 C/T(rs352140)多态性没有差异。TLR9 基因 C/T(rs352140)多态性与原发性 ITP 中任何临床血液学变量均无关系。