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

Not Applicable
Completed
Conditions
Glaucoma
Interventions
Procedure: Blood Sample
Registration Number
NCT00312403
Lead Sponsor
Medical University of Vienna
Brief Summary

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.

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
400
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

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
1Blood SamplePatients with primary open angle glaucoma
2Blood SampleAge- and sex-matched control subjects
Primary Outcome Measures
NameTimeMethod
Genotyping results and putatively associated odds with occurence of primary open angle glaucoma.15 minutes
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Department of Clinical Pharmacology

🇦🇹

Vienna, Austria

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