Analysis of TIMP-1 gene polymorphisms in Italian sclerodermic patients

Manuela Indelicato, Valentina Chiarenza, Massimo Libra, Grazia Malaponte, Valentina Bevelacqua, Maurizio Marchini, James A. McCubrey, Franca Stivala, Raffaella Scorza, Maria Clorinda Mazzarino

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)173-176
Number of pages4
JournalJournal of Clinical Laboratory Analysis
Volume20
Issue number5
DOIs
Publication statusPublished - 2006

Keywords

  • Clinical characteristics
  • Single nucleotide polymorphism
  • Systemic sclerosis
  • Tissue inhibitor of matrix metalloproteinases

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Indelicato, M., Chiarenza, V., Libra, M., Malaponte, G., Bevelacqua, V., Marchini, M., McCubrey, J. A., Stivala, F., Scorza, R., & Mazzarino, M. C. (2006). Analysis of TIMP-1 gene polymorphisms in Italian sclerodermic patients. Journal of Clinical Laboratory Analysis, 20(5), 173-176. https://doi.org/10.1002/jcla.20128