Polymorphisms in the Human Matrix Metalloproteinase Genes MMP1, MMP3, and MMP9: Genetic Risk Factors of Primary Open Angle Glaucoma?


Matrix metalloproteinases (MMPs) fulfill diverse important molecular functions and play pivotal roles in development, tissue morphogenesis, repair, aging, and inflammatory processes. MMPs are also important disease modulating factors, such as cancer, cardiovascular disease, rheumatoid arthritis or macular degeneration. Functional genetic variants have been described to fine-tune MMP activities at the gene transcriptional level and have been associated with increased genetic risk of e.g. arteriosclerosis or cancer. MMPs are also assumed to play a major role in the remodeling of the extracellular matrix (ECM) in the optic nerve head during glaucomatous optic neuropathy. MMP-1, MMP-3 and MMP-9 have been shown to be up-regulated in a variety of animal models of glaucoma. Here, we study three promoter SNPs within the genes encoding three members of the MMP family. By assessing the prevalence of genetic variants associated with either increased/decreased enzyme activity, we will (i) estimate their contribution to the genetic risk of developing primary open angle glaucoma (POAG) and (ii) investigate the potential role of MMPs in the functional pathology of POAG.

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: Non-Randomized
    • Intervention Model: Parallel Assignment
    • Primary Purpose: Diagnostic
    • Masking: None (Open Label)
  • Study Primary Completion Date: November 2009


  • Procedure: Blood Sample
    • A single venous blood sample will be taken (10 ml).

Arms, Groups and Cohorts

  • Other: 1
    • Patients with primary open angle glaucoma
  • Other: 2
    • Age- and sex-matched control subjects

Clinical Trial Outcome Measures

Primary Measures

  • Genotyping results and putatively associated odds with occurence of primary open angle glaucoma.
    • Time Frame: 15 minutes

Participating in This Clinical Trial

Inclusion Criteria

  • Men and women older than 39 years
  • Primary open angle glaucoma as evidenced from characteristic visual field loss and optic disc cupping (POAG group)
  • Healthy subjects matched by age, sex and ethnicity to the POAG patients group (control group)

Exclusion Criteria

  • Exfoliation glaucoma, pigmentary glaucoma
  • History of acute angle closure

Gender Eligibility: All

Minimum Age: 40 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Medical University of Vienna
  • Provider of Information About this Clinical Study
    • Gabriele Fuchsjaeger-Mayrl, Department of Clinical Pharmacology, Medical University of Vienna
  • Overall Official(s)
    • Gabriele Fuchsjaeger-Mayrl, M.D., Principal Investigator, Department of Clinical Pharmacology, Medical University of Vienna

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