title: Analysis of TIMP-1 gene polymorphisms in Italian sclerodermic patients.
abstract: Systemic sclerosis (SSc) is an autoimmune disease characterized by skin and internal organs fibrosis due to an extracellular matrix (ECM) accumulation of type I collagen. The turnover of the ECM is dependent on the balance between matrix metalloproteinases (MMPs) and tissue inhibitors of matrix metalloproteinases (TIMPs). The disruption of this balance is involved in SSc because higher serum TIMP-1 levels have been demonstrated in SSc patients than in controls. On this basis, we analyzed three polymorphisms: -19A>G, +261C>T, and +372T>C of the TIMP-1 gene in SSc patients (67 females, eight males) and controls (29 females, nine males). The C allele of the +372T>C single nucleotide polymorphism (SNP) was observed at a higher frequency in male patients than in healthy individuals (P=0.02), while no differences were observed in the female subjects. Our findings suggest that the +372T>C polymorphism of the TIMP-1 gene is associated with SSc in male individuals. No association with the clinical characteristics of SSc Italian patients and TIMP-1 gene polymorphisms was observed. Thus, the role of TIMP-1 gene in predisposition to SSc remains controversial.
authors.affiliation: Department of Biomedical Sciences, University of Catania, Catania, Italy. clomazza@unict.it
authors.forename: Manuela
authors.initials: M
authors.lastname: Indelicato
authors.forename: Valentina
authors.initials: V
authors.lastname: Chiarenza
authors.forename: Massimo
authors.initials: M
authors.lastname: Libra
authors.forename: Grazia
authors.initials: G
authors.lastname: Malaponte
authors.forename: Valentina
authors.initials: V
authors.lastname: Bevelacqua
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marchini
authors.forename: James A
authors.initials: JA
authors.lastname: McCubrey
authors.forename: Franca
authors.initials: F
authors.lastname: Stivala
authors.forename: Raffaella
authors.initials: R
authors.lastname: Scorza
authors.forename: Maria Clorinda
authors.initials: MC
authors.lastname: Mazzarino
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000235:genetics*; D019715:Tissue Inhibitor of Metalloproteinase-1 / Q000235:genetics*
chemical_list: D019715:Tissue Inhibitor of Metalloproteinase-1