Related Experiment Video
Updated: Sep 7, 2025
07:11
Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
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Glaucoma Genetic Risk Scores in the Million Veteran Program
Andrea R Waksmunski1, Tyler G Kinzy2, Lauren A Cruz1
1Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Ophthalmology
|June 19, 2022
Summary
Genetic risk scores (GRS) show promise for stratifying primary open-angle glaucoma (POAG) risk in European and African ancestry Veterans. However, varied performance highlights the need for diverse genomic data to ensure equitable risk prediction and treatment.
Area of Science:
- Ophthalmology
- Genetics
- Public Health
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness, disproportionately affecting individuals of African ancestry (AFR).
- Genetic risk scores (GRS) offer potential for POAG risk stratification, but their utility is limited in diverse populations.
- A recent large-scale meta-analysis identified 127 POAG-associated loci with cross-ancestry and ancestry-specific effect estimates.
Approach:
- This study evaluated the performance of a 127-variant GRS for POAG risk stratification in European ancestry (EUR) and AFR Veterans within the Million Veteran Program (MVP).
- Researchers assessed the association between GRS and documented invasive glaucoma surgery (IGS) in both ancestry groups.
- Weighted GRS were calculated using both cross-ancestry and ancestry-specific effect estimates.
Key Points:
- GRS were significantly associated with POAG in both EUR and AFR Veterans.
- A higher proportion of EUR Veterans were consistently in the top GRS decile compared to AFR Veterans.
- GRS weighted by ancestry-specific estimates were associated with IGS in AFR cases, while all GRS types were associated with IGS in EUR cases.
Conclusions:
- The varied performance of GRS in EUR and AFR Veterans underscores the complex genetic architecture of POAG.
- Diverse representation in genomic studies is crucial for developing accurate and equitable GRS.
- Expanding diverse POAG genomic data is essential for GRS to effectively aid in identifying high-risk individuals for timely and aggressive treatment.
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