Matrix metalloproteinase-1 polymorphism of promoter region in sarcoidosis and tuberculosis patients

Sarcoidosis Vasc Diffuse Lung Dis. 2004 Mar;21(1):19-24. doi: 10.1007/s11083-004-3344-x.


Background and aim of the work: Matrix metalloproteinases (MMPs) are associated with several diseases. MMP-1 is one of the interstitial collagenases and the most highly expressed. Recent studies have found that a single nucleotide polymorphism located in the promoter region of the MMP-1 gene affects transcriptional activity. This polymorphism, 1G/2G, has been reported to associate with several malignant tumors and lung diseases. In this study, we investigated whether this polymorphism is associated with sarcoidosis or tuberculosis.

Methods: Polymerase chain reaction-restriction fragment length polymorphism was used to determine the MMP-1 genotypes of 103 sarcoidosis patients, 105 tuberculosis patients and 106 healthy control subjects.

Results: We found no differences in genotype distributions and allele frequency between sarcoidosis or tuberculosis patients and healthy control subjects. In sarcoidosis patients with ocular involvement, a significant increase in 1G/1G or 1G/2G genotype was observed compared with patients without (p = 0.009, odds ratio (OR) = 3.22, 95% confidence interval (CI): 1.34-7.71). In sarcoidosis patients with three or more organs involved, 1G/1G type tended to increase compared with patients without (p = 0.035, OR = 5.17, 95% CI: 1.12-23.9). In tuberculosis patients with cavity formation, an increasing trend of 1G/1G type was observed compared with patients without (p = 0.064, OR = 7.69, 95% CI: 0.89-66.3).

Conclusions: Although MMP-1 polymorphism was not associated with onset risk of sarcoidosis and tuberculosis, the clinical characteristics of both diseases were affected by this polymorphism.

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Eye Diseases / pathology
  • Female
  • Genotype
  • Humans
  • Male
  • Matrix Metalloproteinase 1 / genetics*
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Promoter Regions, Genetic / genetics
  • Risk Factors
  • Sarcoidosis / genetics*
  • Tuberculosis, Pulmonary / genetics*


  • Matrix Metalloproteinase 1