Abstract

Long non-coding RNA locus PVT1 produces multiple regulatory RNA molecules via alternative splicing, and therefore is a promising object for the development of targeted therapies of different disorders. Performing associationanalysis of genetic variants rs4410871 andrs759648 at the PVT1 locus with multiple sclerosis (MS) in the ethnic group of Russians, Tatars, and Bashkirs from the Volga-Ural region of Russia, we established an association between rs759648*С and MS in the group of Tatars (OR=1.42, PBonf0.046), confirmed by the results of meta-analysisin the three ethnic groups (OR=1.28, P = 0.015). Haplotypic analysis has revealed an association of the rs759648*С/rs4410871*С haplotype with MS in the total study group (χ2=6.083, Рperm =0.012), whilers4410871*C/C + rs759648* C/C combination conferred an increased risk of MS (OR = 2.71, Pperm = 0.027) in this groupaccording to the data yielded by the multilocus analysis. The results of our analysis indicate the significance of the rs759648 polymorphism located near the DNA sequence producing miR-1208. Further studies will help to elucidate the molecular mechanisms of the involvement of PVT1 gene in the etiopathogenesis of MS.

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