An Interdependence Between GAPVD1 Gene Polymorphism, Expression Level and Response to Interferon Beta in Patients with Multiple Sclerosis

Abstract

Interferon-β (IFN-β) is among the first drugs used for reducing the symptoms of relapsing-remitting multiple sclerosis (RRMS). Nevertheless, numerous patients do not respond to this therapy. Many studies show that the genetic predisposition of patients might modulate their response to IFN-β treatment. We investigated a possible relationship between GAPVD1 gene expression, and its rs2291858 polymorphism and IFN-β response in patients with RRMS. Further, we studied the relationship of rs2291858 with susceptibility to MS disease. Methods: GAPVD1 gene expression and the genotyping of rs2291858 variant were analysed in 100 responder and 100 non-responder patients with RRMS treated using IFN-β. Moreover, rs2291858 genotyping was performed for 200 patients with RRMS and 200 healthy controls. Results: GAPVD1 expression was significantly increased in the responder patients than in non-responders and the distribution of rs2291858 polymorphism was associated significantly with the former. The GAPVD1 expression level in AA genotype of the responder group was higher than that in other genotypes of these two groups.