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

Overview

Journal Clin Dev Immunol

Specialty Allergy & Immunology

Date 2012 Sep 26

PMID 23008732

Citations 23

Authors

Cristoforo Comi

Giuseppe Cappellano

Annalisa Chiocchetti

Elisabetta Orilieri

Sara Buttini

Laura Ghezzi

Daniela Galimberti

Franca Guerini

Nadia Barizzone

Franco Perla

Maurizio Leone

Sandra DAlfonso

Domenico Caputo

Elio Scarpini

Roberto Cantello

Umberto Dianzani

Affiliations

Soon will be listed here.

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.

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