Association of osteopontin regulatory polymorphisms with systemic sclerosis.
Hum Immunol
; 72(10): 930-4, 2011 Oct.
Article
in En
| MEDLINE
| ID: mdl-21763380
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Scleroderma, Systemic
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
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White People
/
Osteopontin
Type of study:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Hum Immunol
Year:
2011
Document type:
Article
Affiliation country: