Association of osteopontin regulatory polymorphisms with systemic sclerosis.

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.

journal_name

Hum Immunol

journal_title

Human immunology

authors

Barizzone N,Marchini M,Cappiello F,Chiocchetti A,Orilieri E,Ferrante D,Corrado L,Mellone S,Scorza R,Dianzani U,D'Alfonso S

doi

10.1016/j.humimm.2011.06.009

subject

Has Abstract

pub_date

2011-10-01 00:00:00

pages

930-4

issue

10

eissn

0198-8859

issn

1879-1166

pii

S0198-8859(11)00155-8

journal_volume

72

pub_type

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