Association of osteopontin regulatory polymorphisms with systemic sclerosis

Nadia Barizzone, Maurizio Marchini, Francesca Cappiello, Annalisa Chiocchetti, Elisabetta Orilieri, Daniela Ferrante, Lucia Corrado, Simona Mellone, Raffaella Scorza, Umberto Dianzani, Sandra D'alfonso

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)930-934
Number of pages5
JournalHuman Immunology
Issue number10
Publication statusPublished - Oct 2011


  • Genetic association
  • Osteopontin
  • Polymorphisms
  • Systemic sclerosis

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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