TY - JOUR
T1 - The impact of osteopontin gene variations on multiple sclerosis development and progression
AU - Comi, Cristoforo
AU - Cappellano, Giuseppe
AU - Chiocchetti, Annalisa
AU - Orilieri, Elisabetta
AU - Buttini, Sara
AU - Ghezzi, Laura
AU - Galimberti, Daniela
AU - Guerini, Franca
AU - Barizzone, Nadia
AU - Perla, Franco
AU - Leone, Maurizio
AU - D'Alfonso, Sandra
AU - Caputo, Domenico
AU - Scarpini, Elio
AU - Cantello, Roberto
AU - Dianzani, Umberto
PY - 2012
Y1 - 2012
N2 - 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 - 156 G > GG single nucleotide polymorphism (SNP) and replicated our previous findings at the 3′ end on the + 1239 A > C SNP. We found that only + 1239 A > C SNP displayed a statistically significant association with MS development, but both + 1239 A > C and - 156 G > 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.
AB - 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 - 156 G > GG single nucleotide polymorphism (SNP) and replicated our previous findings at the 3′ end on the + 1239 A > C SNP. We found that only + 1239 A > C SNP displayed a statistically significant association with MS development, but both + 1239 A > C and - 156 G > 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.
UR - http://www.scopus.com/inward/record.url?scp=84867344577&partnerID=8YFLogxK
U2 - 10.1155/2012/212893
DO - 10.1155/2012/212893
M3 - Article
SN - 1740-2522
VL - 2012
JO - Clinical and Developmental Immunology
JF - Clinical and Developmental Immunology
M1 - 212893
ER -