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

• Main Authors: Cristoforo Comi, Giuseppe Cappellano, Annalisa Chiocchetti, Elisabetta Orilieri, Sara Buttini, Laura Ghezzi, Daniela Galimberti, Franca Guerini, Nadia Barizzone, Franco Perla, Maurizio Leone, Sandra D’Alfonso, Domenico Caputo, Elio Scarpini, Roberto Cantello, Umberto Dianzani
• Format: Article
• Language: English
• Published: Hindawi Limited 2012-01-01
• Series: Clinical and Developmental Immunology
• Online Access: http://dx.doi.org/10.1155/2012/212893

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>GG single nucleotide polymorphism (SNP) and replicated our previous findings at the 3′ end on the +1239A>C SNP. We found that only +1239A>C SNP displayed a statistically significant association with MS development, but both +1239A>C and -156G>GG had 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.