Polymorphism of toll-like receptor genes and autoimmune endocrine diseases

Abstract

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.

Keywords: Autoimmunity; Graves' disease; Hashimoto's autoimmune thyroiditis; Single nucleotide polymorphism (SNP); Toll-like receptors (TLRs); Type 1 diabetes mellitus (T1DM).