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Genetic polymorphism in matrix metalloproteinase-9 and pulmonary emphysema

N Minematsu1, H Nakamura, H Tateno

  • 1Cardiopulmonary Division, Department of Medicine, School of Medicine, Keio University, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

Biochemical and Biophysical Research Communications
|November 16, 2001
PubMed

Insights

Genetic variations in matrix metalloproteinase-9 (MMP-9) may increase the risk of developing smoking-induced pulmonary emphysema. The T allele of the MMP-9 -1562C/T polymorphism is associated with a higher risk and more severe emphysema.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Biochemistry

Background:

  • Protease-antiprotease imbalance, influenced by genetic factors, is implicated in smoking-induced pulmonary emphysema.
  • Matrix metalloproteinases (MMPs), particularly MMP-9, are increasingly recognized for their role in emphysema pathogenesis.

Purpose of the Study:

  • To investigate the association between the functional MMP-9 (-1562C/T) gene polymorphism and the development of pulmonary emphysema in a Japanese population.
  • To determine if MMP-9 polymorphism acts as a genetic risk factor for smoking-related emphysema.

Main Methods:

  • A case-control study was conducted involving 110 smokers and 94 non-smokers.
  • Genotyping for the MMP-9 -1562C/T polymorphism was performed.
  • Chest CT scans were used to assess emphysema severity.
  • Pulmonary function tests, including DL(CO)/VA, were analyzed.

Main Results:

  • The T allele frequency of the MMP-9 -1562C/T polymorphism was significantly higher in subjects with distinct emphysema compared to those without (0.244 vs 0.123, P=0.02).
  • Logistic regression analysis identified the T allele as a significant risk factor for smoking-induced emphysema (OR=2.69, P=0.02).
  • Subjects with C/T or T/T genotypes exhibited lower DL(CO)/VA and more conspicuous emphysematous changes compared to C/C genotype individuals.

Conclusions:

  • The MMP-9 -1562C/T polymorphism is suggested to be a genetic factor contributing to the development of smoking-induced pulmonary emphysema.
  • This finding highlights the role of MMP-9 genetic variations in susceptibility to smoking-related lung disease.

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