Analysis of Associations of Genetic Predisposition Markers Identified in Genome-Wide Studies with Multiple Sclerosis

Abstract

Objectives. To carry out a replicative analysis of the associations with multiple sclerosis of genetic markers of autoimmune diseases identified as a result of genome-wide studies in ethnically homogeneous groups of Russians and Tatars living in the Republic of Bashkortostan. Materials and methods. A group of 1724 people (547 patients with multiple sclerosis, 1177 members of the control group) underwent genotyping using allele-specific PCR and PCT with restriction fragment length polymorphism analysis for polymorphic variants rs2069762 of the IL2 gene, rs759648 of the PVT1 gene, rs1800682 of the FAS gene, and rs12708716 of the CLEC16A gene. Associations of these genetic markers with multiple sclerosis were studied using the PLINK program by logistical regression using an additive genetic model with sex as a covariate. Results. In the Tatar group we found an association between the rs759648*C of PVT1 with multiple sclerosis (OR = 1.42, p = 0.023). Meta-analysis of the results in the two ethnic groups confirmed the association of the rs759648*C allele of PVT1 with the disease (a random effects model and a fixed effect model: OR = 1.29, p = 0.018). Conclusions. These data provide evidence of an association between the polymorphic variant rs759648 of PT1 and multiple sclerosis in the Russian and Tatar populations living in the Republic of Bashkortostan. No associations with the other polymorphic variants studied were found in these two ethnic groups.