TY - JOUR
T1 - Association of osteopontin regulatory polymorphisms with systemic sclerosis
AU - Barizzone, Nadia
AU - Marchini, Maurizio
AU - Cappiello, Francesca
AU - Chiocchetti, Annalisa
AU - Orilieri, Elisabetta
AU - Ferrante, Daniela
AU - Corrado, Lucia
AU - Mellone, Simona
AU - Scorza, Raffaella
AU - Dianzani, Umberto
AU - D'alfonso, Sandra
PY - 2011/10
Y1 - 2011/10
N2 - To test the involvement of osteopontin gene (OPN) in systemic sclerosis (SSc) susceptibility, two OPN single nucleotide polymorphisms previously reported to be associated with systemic lupus erythematosus, namely -156G/GG (proximal promoter) and +1239A/C (3' untranslated region (UTR)), were tested in 357 Italian patients and 864 matched control subjects. OPN serum levels were determined by enzyme-linked immunosorbent assay in 32 patients and 116 controls. Compared with the controls, in SSc patients there was a significantly increased frequency of the alleles -156G (p = 0.0086), and +1239C (p = 0.00064), paralleling the association reported for systemic lupus erythematosus. According to logistic regression analysis, this association is primarily due to the effect of +1239 single nucleotide polymorphism. OPN serum levels were significantly higher in SSc patients than in controls (p = 0.00025). These data suggest that OPN genetic variations have a role in SSc susceptibility, reporting for the first time an involvement of this molecule in SSc pathogenesis and emphasizing that SSc shares pathogenetic mechanisms with other autoimmune diseases.
AB - To test the involvement of osteopontin gene (OPN) in systemic sclerosis (SSc) susceptibility, two OPN single nucleotide polymorphisms previously reported to be associated with systemic lupus erythematosus, namely -156G/GG (proximal promoter) and +1239A/C (3' untranslated region (UTR)), were tested in 357 Italian patients and 864 matched control subjects. OPN serum levels were determined by enzyme-linked immunosorbent assay in 32 patients and 116 controls. Compared with the controls, in SSc patients there was a significantly increased frequency of the alleles -156G (p = 0.0086), and +1239C (p = 0.00064), paralleling the association reported for systemic lupus erythematosus. According to logistic regression analysis, this association is primarily due to the effect of +1239 single nucleotide polymorphism. OPN serum levels were significantly higher in SSc patients than in controls (p = 0.00025). These data suggest that OPN genetic variations have a role in SSc susceptibility, reporting for the first time an involvement of this molecule in SSc pathogenesis and emphasizing that SSc shares pathogenetic mechanisms with other autoimmune diseases.
KW - Genetic association
KW - Osteopontin
KW - Polymorphisms
KW - Systemic sclerosis
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U2 - 10.1016/j.humimm.2011.06.009
DO - 10.1016/j.humimm.2011.06.009
M3 - Article
C2 - 21763380
AN - SCOPUS:80052961642
VL - 72
SP - 930
EP - 934
JO - Human Immunology
JF - Human Immunology
SN - 0198-8859
IS - 10
ER -