title: 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.
authors.affiliation: Department of Medical Sciences, A. Avogadro University of Eastern Piedmont, Novara, Italy. barizzo@med.unipmn.it
authors.forename: Nadia
authors.initials: N
authors.lastname: Barizzone
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marchini
authors.forename: Francesca
authors.initials: F
authors.lastname: Cappiello
authors.forename: Annalisa
authors.initials: A
authors.lastname: Chiocchetti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Orilieri
authors.forename: Daniela
authors.initials: D
authors.lastname: Ferrante
authors.forename: Lucia
authors.initials: L
authors.lastname: Corrado
authors.forename: Simona
authors.initials: S
authors.lastname: Mellone
authors.forename: Raffaella
authors.initials: R
authors.lastname: Scorza
authors.forename: Umberto
authors.initials: U
authors.lastname: Dianzani
authors.forename: Sandra
authors.initials: S
authors.lastname: D'Alfonso
mesh_terms: D020413:3' Untranslated Regions; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D053495:Osteopontin / Q000097:blood / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012044:Regression Analysis; D012595:Scleroderma, Systemic / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D044465:White People
chemical_list: D020413:3' Untranslated Regions; D053495:Osteopontin