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Updated: Jun 8, 2025
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Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
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Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis of a Randomized
Sayuri Sekimitsu1,2, Nabil Ghazal1, Kanza Aziz2
1Tufts University School of Medicine, Boston, Massachusetts.
JAMA Ophthalmology
|November 7, 2024
Summary
A polygenic risk score (PRS) can identify individuals at low risk for primary open-angle glaucoma (POAG). Lower PRS is linked to reduced disease conversion over 20 years, especially in high-risk groups.
Area of Science:
- Ophthalmology
- Genetics
- Public Health
Background:
- Primary open-angle glaucoma (POAG) is a heritable condition.
- Polygenic risk scores (PRS) offer a potential tool to stratify disease risk.
Purpose of the Study:
- To evaluate the effectiveness of a POAG PRS in identifying individuals with ocular hypertension at low risk of developing POAG.
- To analyze the 20-year conversion rates based on PRS thresholds and clinical risk factors.
Main Methods:
- Post hoc analysis of the Ocular Hypertension Treatment Study (OHTS) involving 1010 participants with available genetic data.
- Mixed-effects logistic regression adjusted for OHTS risk factors and randomization status.
- Stratification by baseline OHTS clinical risk tertiles to assess PRS impact.
Main Results:
- A PRS below the 48th percentile was associated with a significantly higher likelihood of remaining disease-free over 20 years (P=.03).
- The largest difference in 20-year conversion rates was observed in the highest clinical risk tertile, with lower PRS significantly reducing conversion (23.8% vs 61.1%, P=.01).
- Early treatment partially mitigated high genetic risk in the highest clinical risk group, but offered limited benefit for those with low genetic risk.
Conclusions:
- A POAG PRS threshold is a valuable tool for identifying individuals at lower risk of disease onset.
- Clinical risk stratification combined with PRS can refine risk prediction for POAG.
- Early intervention may be less effective for individuals with low genetic predisposition, even if clinically high-risk.
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