GENE POLYMORPHISM IN TOLL-LIKE RECEPTOR AND ASSOCIATED DISEASES

DOI: https://doi.org/10.29296/24999490-2019-06-02

K.A. Dvornikova, E.Yu. Bystrova, O.N. Platonova, A.D. Nozdrachev I.P. Pavlov Institute of Physiology, RAS, Makarova Emb., 6, Saint-Petersburg, 199034, Russian Federation E-mail: [email protected]

Introduction. In recent years, there have been aroused and actively studied mutations associated with Toll-like receptor genes (TLRs). The emerging interest is related to the identification of many associations between the TLRs polymorphism and the development of pathological conditions. Single nucleotide polymorphism (SNP) is a variant of point mutation. If two sequences in DNA differ by one nucleotide, then two alleles appear. As a result of single nucleotide polymorphisms in TLRs, the functioning of some key signaling pathways is impaired which in turn increases the risk of developing autoimmune, oncological and cardiovascular diseases. The aim of the study. The present study is devoted both to examining the current state of the problem, and, in particular, summarizing the information presented in the literature about the role of TLRs polymorphism in the occurrence of a number of diseases of the digestive system. Results. The analysis of studies on the nature of SNPs and their role in the body allowed establishing some functional consequences of polymorphisms in TLRs. The relationship of SNPs with susceptibility to infectious and inflammatory diseases of the gastrointestinal tract in some cases has been established clinically. A significant number of studies are devoted to identifying associations of SNPs of Toll-like receptors with the occurrence of malignant tumors. Conclusion. At present, it has not yet been possible to determine the exact mechanism of the inflammatory response leading to cancer, however, the data indicate the involvement of TLRs in the inflammatory response and the possibility of its modification through SNPs, which, in turn, may alter the course of the tumor process. One can hope further research in this area to provide more information about the effects of SNPs on genes in order to predict and prevent diseases based on genomic risk markers, as well as to help to identify new ways in the diagnosis and treatment of cancer using gene therapy.
Keywords: 
gene polymorphism, mutations, Toll-like receptors (TLRs), single nucleotide polymorphism (SNP), digestive system, carcinogenesis
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