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.

The impact of osteopontin gene variations on multiple sclerosis development and progression / C. Comi, G. Cappellano, A. Chiocchetti, E. Orilieri, S. Buttini, L. Ghezzi, D. Galimberti, F. Guerini, N. Barizzone, F. Perla, M. Leone, S. D'Alfonso, D. Caputo, E. Scarpini, R. Cantello, U. Dianzani. - In: CLINICAL & DEVELOPMENTAL IMMUNOLOGY. - ISSN 1740-2522. - 2012(2012), pp. 212893.212893.1-212893.212893.6.

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

G. Cappellano;L. Ghezzi;D. Galimberti;F. Guerini;D. Caputo;E. Scarpini;
2012

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 - 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.
Alleles ; Case-Control Studies ; Disease Progression ; Female ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Male ; Multiple Sclerosis ; Osteopontin ; Polymorphism, Single Nucleotide
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/229125
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