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Updated: May 19, 2026
07:11
Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
Genome-wide expression profiling of patients with primary open angle glaucoma
Dilek Colak1, Jose Morales, Thomas M Bosley
1Department of Biostatistics Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Investigative Ophthalmology & Visual Science
|August 9, 2012
Summary
This study identified a distinct set of blood gene expression signatures in primary open-angle glaucoma (POAG) patients, revealing key molecular pathways involved in POAG pathogenesis.
Area of Science:
- Genomics
- Molecular Biology
- Ophthalmology
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness.
- Understanding the molecular mechanisms underlying POAG is crucial for developing effective treatments.
Purpose of the Study:
- To identify differentially expressed genes in POAG patients.
- To elucidate gene interaction networks and molecular pathways implicated in POAG development.
Main Methods:
- Genome-wide expression profiling using high-density oligonucleotide microarrays in leukocytes from POAG patients and normal controls.
- Identification of significantly modulated genes based on false discovery rate (FDR) <0.01 and fold change (FC) >1.5.
- Mapping of dysregulated genes to biological processes and pathways.
Main Results:
- A "POAG gene signature" of 563 significantly dysregulated genes (410 upregulated, 153 downregulated) was identified.
- Enriched functions included nucleic acid metabolism, MAPK cascade, apoptosis, and nervous system development.
- Altered canonical pathways included ephrin receptor signaling, ubiquitin proteasome pathway, and G-protein coupled receptor signaling.
Conclusions:
- Blood gene signatures effectively distinguish POAG patients from normal controls.
- Identified molecular pathways offer insights into POAG pathogenesis.
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