The impact of osteopontin gene variations on multiple sclerosis development and progression

Clin Dev Immunol. 2012:2012:212893. doi: 10.1155/2012/212893. Epub 2012 Sep 11.

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 > 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Case-Control Studies
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Male
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / pathology
  • Osteopontin / genetics*
  • Polymorphism, Single Nucleotide

Substances

  • Osteopontin