Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers

Evangelia Skarmoutsou, Fabio D'Amico, Maurizio Marchini, Franca Stivala, Grazia Malaponte, Raffaella Scorza, Maria Clorinda Mazzarino

Research output: Contribution to journalArticle

Abstract

The objective of this study was to determine whether the matrix metalloproteinase-9 (MMP-9) rs3918242 single nucleotide polymorphism may confer susceptibility to systemic sclerosis (SSc) with and without ulcers in an Italian Caucasian population. The MMP-9 rs3918242 functional polymorphism was genotyped in 461 subjects of Italian Caucasian origin: 228 patients with SSc (92 with and 136 without ulcers) and 233 unrelated healthy individuals. The SNP under study was in Hardy-Weinberg equilibrium in the control population. Genotype and allele distributions between SSc patients, with or without ulcers, were not statistically significant (P>0.05). A significant increase of the genotype C/T was observed in male SSc patients without ulcers when compared to patients with ulcers (P=0.04). The MMP-9 rs3918242 functional polymorphism is not associated with susceptibility to SSc. However, the presence of the polymorphism may have a protective effect on the development of ulcers in SSc male patients.

Original languageEnglish
Pages (from-to)873-877
Number of pages5
JournalInternational Journal of Molecular Medicine
Volume27
Issue number6
DOIs
Publication statusPublished - Jun 2011

Fingerprint

Systemic Scleroderma
Matrix Metalloproteinase 9
Ulcer
Genes
Single Nucleotide Polymorphism
Genotype
Population
Alleles

Keywords

  • Matrix metalloproteinase-9
  • Single-nucleotide polymorphism
  • Systemic sclerosis
  • Ulcer

ASJC Scopus subject areas

  • Genetics

Cite this

Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers. / Skarmoutsou, Evangelia; D'Amico, Fabio; Marchini, Maurizio; Stivala, Franca; Malaponte, Grazia; Scorza, Raffaella; Mazzarino, Maria Clorinda.

In: International Journal of Molecular Medicine, Vol. 27, No. 6, 06.2011, p. 873-877.

Research output: Contribution to journalArticle

Skarmoutsou, Evangelia ; D'Amico, Fabio ; Marchini, Maurizio ; Stivala, Franca ; Malaponte, Grazia ; Scorza, Raffaella ; Mazzarino, Maria Clorinda. / Analysis of matrix metalloproteinase-9 gene polymorphism -1562 C/T in patients suffering from systemic sclerosis with and without ulcers. In: International Journal of Molecular Medicine. 2011 ; Vol. 27, No. 6. pp. 873-877.
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