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

Study Overview
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Brief Summary
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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.

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

Conditions
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Glaucoma

Intervention / Treatment
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* Procedure: Blood Sample


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 40 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: 1<br>Patients with primary open angle glaucoma | Procedure: Blood Sample<br>* A single venous blood sample will be taken (10 ml).<br>|
| Other: 2<br>Age- and sex-matched control subjects | Procedure: Blood Sample<br>* A single venous blood sample will be taken (10 ml).<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotyping results and putatively associated odds with occurence of primary open angle glaucoma. |  | 15 minutes | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Glaucoma, Gene Polymorphism, Metalloproteinase