Polymorphisms in the Human Matrix Metalloproteinase Genes MMP1, MMP3, and MMP9: Genetic Risk Factors of Primary Open Angle Glaucoma?
Study Details
Study Description
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.
Condition or Disease | Intervention/Treatment | Phase |
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N/A |
Study Design
Arms and Interventions
Arm | Intervention/Treatment |
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Other: 1 Patients with primary open angle glaucoma |
Procedure: Blood Sample
A single venous blood sample will be taken (10 ml).
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Other: 2 Age- and sex-matched control subjects |
Procedure: Blood Sample
A single venous blood sample will be taken (10 ml).
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Outcome Measures
Primary Outcome Measures
- Genotyping results and putatively associated odds with occurence of primary open angle glaucoma. [15 minutes]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Men and women older than 39 years
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Primary open angle glaucoma as evidenced from characteristic visual field loss and optic disc cupping (POAG group)
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Healthy subjects matched by age, sex and ethnicity to the POAG patients group (control group)
Exclusion Criteria:
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Exfoliation glaucoma, pigmentary glaucoma
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History of acute angle closure
Contacts and Locations
Locations
Site | City | State | Country | Postal Code | |
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1 | Department of Clinical Pharmacology | Vienna | Austria | 1090 |
Sponsors and Collaborators
- Medical University of Vienna
Investigators
- Principal Investigator: Gabriele Fuchsjaeger-Mayrl, M.D., Department of Clinical Pharmacology, Medical University of Vienna
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- OPHT-300505