Polygenic risk score linked with higher risk for POAG in patients with ocular hypertension
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Key takeaways:
- An increase in polygenic risk score is associated with earlier development of primary open-angle glaucoma.
- The findings may help with shared decision-making regarding early treatment.
Polygenic risk score is associated with an increased risk for primary open-angle glaucoma in patients with ocular hypertension, according to a speaker.
“Glaucoma is a highly heritable disease, and it is also very genetically complex, with 127 risk variants identified to date,” Rishabh Singh said at the American Glaucoma Society meeting. “While individually this risk variance may have a small effect, they still make a contribution to the aggregate genetic burden that a patient carries. We can measure that aggregate genetic burden in the form of a polygenic risk score.”
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Studies have demonstrated that a higher primary open-angle glaucoma (POAG) polygenic risk score (PRS) is associated with increased severity of disease, younger age at diagnosis and an increased risk for disease onset, Singh said.
Singh and colleagues examined data from 1,056 participants in the Ocular Hypertension Treatment Study (OHTS) who completed genotyping to determine if genomic information could improve risk stratification. They normalized PRS within the participants’ genetically determined ancestry, the most common of which were European and African.
The researchers found that an increase in PRS is associated with earlier development of POAG. This may be mitigated by early treatment of ocular hypertension, Singh said. PRS was also shown to improve performance of the OHTS baseline prediction model.
“In terms of practical applications, in the future when we have further cross-ancestry [genome-wide association studies] and, based on that, the right reference population for our own patients, PRS may improve risk stratification in patients with ocular hypertension,” Singh said. “It may also enable us to calculate a level of individualized risk prior to the onset of clinically detectable phenotypic factors. Lastly, it may also help us inform shared decision-making with our patients to decide whether early treatment is a good option.”
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Singh R, et al. Polygenic risk score improves prediction of primary open angle glaucoma onset in the Ocular Hypertension Treatment Study. Presented at: American Glaucoma Society meeting; March 2-5, 2022; Austin, Texas.
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