Lack of association of a functionally relevant single nucleotide polymorphism of matrix metalloproteinase-1 promoter with systemic sclerosis (scleroderma)

R. W. Johnson, J. D. Reveille, T. McNearney, M. Fischbach, A. W. Friedman, C. Ahn, F. C. Arnett, F. K. Tan

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Matrix metalloproteinase 1 (MMP-1) is necessary for degradation of interstitial collagen types I, II, and III, which are the major constituents of the extracellular matrix (ECM). Increased expression of MMP-1 has been correlated with invasiveness of certain malignancies and cartilage degradation in rheumatoid arthritis. Increased transcriptional activity of MMP-1 has been reported with a single nucleotide polymorphism (SNP) of the MMP-1 promoter. Systemic sclerosis (SSc) is characterized by increased accumulation and turnover of collagen and other components of ECM. Previous studies have reported increased expression of MMP-1 transcripts in SSc fibroblasts. Therefore, we sought to determine if SSc patients with early disease (≤5 years) from a multi-ethnic cohort were more or less likely than ethnically-matched normal controls to have an increased frequency of the high promoter activity MMP-1 genotype and whether MMP-1 promoter genotypes correlated with any of the major clinical manifestations of SSc. The results show that the frequency of the high activity promoter genotype in either the heterozygous or homozygous state did not differ significantly between SSc patients and ethnically-matched controls, or between SSc patients with either diffuse or limited scleroderma. Furthermore, MMP-1 promoter genotypes did not significantly correlate with any of the major clinical manifestations of SSc.

Original languageEnglish (US)
Pages (from-to)273-275
Number of pages3
JournalGenes and Immunity
Volume2
Issue number5
DOIs
StatePublished - Aug 1 2001

Keywords

  • Fibrosis
  • Genetics
  • Matrix metalloproteinase-1
  • Scleroderma
  • Systemic sclerosis

ASJC Scopus subject areas

  • Immunology
  • Genetics
  • Genetics(clinical)

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