The Role of Transposable Elements in the Association of Polymorphic Variants with Multifactorial Diseases

Molecular genetic studies make it possible to determine associations of multifactorial diseases (MFDs) with many specific SNPs, which influence on MFDs etiopathogenesis is often difficult to explain. This is due to the one-sided focus of strategies in the search for mechanisms of these SNPs influence, which are mainly limited to determining the role of protein-coding genes, near or within which these polymorphisms are located. This article provides data on the mechanisms of SNP influence on MFDs etiopathogenesis due to changes in the transposable elements, which leads to their activation, dysfunction or susceptibility to exogenous viral infections. As a result, the relationship of transposable elements with specific proteins, non-coding RNA and epigenetic factors changes, which is a predisposing factor for MFDs development. Indeed, most disease-associated SNPs are located in intronic and regulatory regions of genes, and in intergenic regions. Transposable elements of the human genome are also localized in these places. Therefore, the association of specific SNPs with certain MFDs is due to the different activities of specific transposable elements. Determining the influence of SNPs on transposable elements is promising in bioinformatics studies with the construction of maps of the distribution of these elements in the genome within genes and in intergenic regions with the identification of changes in their structure under the influence of polymorphisms. Using neurodegenerative diseases as an example, it has been shown that pathological functioning and activation of retroelements due to SNPs in the regions of their location in the human genome leads to these MFDs development.