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&rt;G, +261C&rt;T, and +372T&rt;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&rt;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&rt;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.

Analysis of TIMP-1 gene polymorphisms in Italian sclerodermic patients. / M. Indelicato, V. Chiarenza, M. Libra, G. Malaponte, V. Bevelacqua, M. Marchini, JA. McCubrey, F. Stivala, R. Scorza, MC. Mazzarino. - In: JOURNAL OF CLINICAL LABORATORY ANALYSIS. - ISSN 0887-8013. - 20:5(2006 Mar), pp. 173-176.

Analysis of TIMP-1 gene polymorphisms in Italian sclerodermic patients.

M. Marchini;R. Scorza
Penultimo
;
2006-03

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&rt;G, +261C&rt;T, and +372T&rt;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&rt;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&rt;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.
Clinical characteristics; Single nucleotide polymorphism; Systemic sclerosis; Tissue inhibitor of matrix metalloproteinases
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/30137
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