Matrix metalloproteinases gene variants in idiopathic disseminated bronchiectasis

J Investig Med. 2009 Mar;57(3):500-3. doi: 10.2310/JIM.0b013e318198277c.

Abstract

Background: The excess of matrix metalloproteinases (MMPs) might be associated with the airways destruction or dilatation in bronchiectasis. The functional promoter polymorphisms of MMP1 and MMP9 genes, involved in the extracellular matrix remodeling, might increase the expression of MMPs leading to the development of bronchiectasis.

Methods: Detection of MMP1 G-1607GG and MMP9 C-1562T gene variants was performed on 37 patients with idiopathic disseminated bronchiectasis and 102 control subjects. We also described a novel method for simple and rapid detection of MMP1 G-1607GG polymorphism.

Results: The frequency of -1607GG allele was significantly higher in the group of patients than in control subjects (P = 0.014). The heterozygote genotype showed association with bronchiectasis (odds ratio, 5.3; 95% confidence intervals, 1.4-20.0). The association was even stronger in homozygotes for -1607GG allele (odds ration, 8.7; 95% confidence intervals, 1.9-41.0). The allelic and genotype frequencies of MMP9 C-1562T variant did not show significant differences between the groups.

Conclusions: This is the first report concerning a role of MMP1 G-1607GG and MMP9 C-1562T variants in pathogenesis of idiopathic disseminated bronchiectasis. The results of our study revealed the association of -1607GG allele and the lack of association of MMP9 C-1562T variant with the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bronchiectasis / enzymology*
  • Bronchiectasis / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Matrix Metalloproteinase 1 / genetics*
  • Matrix Metalloproteinase 9 / genetics*
  • Middle Aged
  • Polymorphism, Restriction Fragment Length*

Substances

  • Matrix Metalloproteinase 9
  • MMP1 protein, human
  • Matrix Metalloproteinase 1