Pavlov Institute of Physiology, Russian Academy of Sciences, Saint Petersburg, Russian Federation.
Pavlov Institute of Physiology, Russian Academy of Sciences, Saint Petersburg, Russian Federation.
Autoimmun Rev. 2020 Apr;19(4):102496. doi: 10.1016/j.autrev.2020.102496. Epub 2020 Feb 13.
In recent years, there has been a significant amount of interest and vigorous studies on mutations related to innate immunity receptor genes such as Toll-like receptors (TLR), which is driven by the identification of many associations between these mutations and development of various disorders leading, in particular, to autoimmune diseases. It has been proven that the occurrence of single nucleotide polymorphisms in DNA sequences encoding TLRs causes malfunction of some key signaling pathways, and, as a result, increases the risk of autoimmune diseases. The identification of these polymorphisms can lead to the understanding of the pathogenesis of autoimmune diseases, which subsequently will create effective methods for the prevention and treatment thereof. This article examines the current state of the art, in particular summarizes data on the role of polymorphisms in Toll-like receptor genes in a number of autoimmune endocrine diseases, including type 1 diabetes mellitus, Graves' disease and Hashimoto's autoimmune thyroiditis. The search for relevant scientific data was carried out by entering search queries based on keywords: TLR, SNP, autoimmunity, Graves' disease, Type 1 diabetes mellitus, Hashimoto's autoimmune thyroiditis. The search was conducted through PubMed, MEDLINE, Elsevier journals, Science Direct and Russian Index of Scientific Citation, as well as other highly cited publications on Genetics, Immunology, and Pathophysiology - related to the topic.
近年来，人们对先天免疫受体基因（如 Toll 样受体（TLR））相关突变产生了浓厚的兴趣并进行了深入的研究，这是因为人们发现许多这些突变与各种疾病的发生有关，特别是自身免疫性疾病。已经证明，TLR 编码 DNA 序列中单核苷酸多态性的发生导致某些关键信号通路发生故障，从而增加了自身免疫性疾病的风险。识别这些多态性可以帮助我们了解自身免疫性疾病的发病机制，从而为预防和治疗这些疾病创造有效的方法。本文综述了目前的研究现状，特别是总结了 TLR 基因多态性在多种自身免疫性内分泌疾病中的作用，包括 1 型糖尿病、格雷夫斯病和桥本甲状腺炎。通过基于关键词输入搜索查询，进行了相关科学数据的检索：TLR、SNP、自身免疫、格雷夫斯病、1 型糖尿病、桥本甲状腺炎。检索是通过 PubMed、MEDLINE、爱思唯尔期刊、Science Direct 和俄罗斯科学引文索引以及与遗传学、免疫学和病理生理学相关的其他高引用出版物进行的。
