The Impact of Osteopontin Gene Variations on Multiple Sclerosis Development and Progression

Abstract

Osteopontin is a proinflammatory molecule, modulating TH1 and TH17 responses. Several reports suggest its involvement in multiple sclerosis (MS) pathogenesis. We previously reported that OPN gene variations at the 3′ end are a predisposing factor for MS development and evolution. In this paper, we extended our analysis to a gene variation at the 5′ end on the-156G>GGsingle nucleotide polymorphism (SNP) and replicated our previous findings at the 3′ end on the+1239A>CSNP. We found that only+1239A>CSNP displayed a statistically significant association with MS development, but both+1239A>Cand-156G>GGhad an influence on MS progression, since patients homozygous for both +1239A and −156GG alleles displayed slower progression of disability and slower switch to secondary progression than those carrying +1239C and/or −156G and those homozygous for +1239A only. Moreover, patients homozygous for +1239A also displayed a significantly lower relapse rate than those carrying +1239C, which is in line with the established role of OPN in MS relapses.