New Polygenic Risk Score Identifies Patients at High Risk for Glaucoma

A recent study published in JAMA Ophthalmology highlights the potential of intraocular pressure (IOP) and vertical cup-disc ratio (VCDR) polygenic risk scores (PRS) in identifying patients at risk for glaucoma. The findings suggest that these scores can assist in targeting treatment for those who need it most.

Glaucoma is a serious eye condition that can cause vision loss and blindness. Primary open-angle glaucoma (POAG) is the most common type, affecting about 2.4% of the global population. Both IOP and VCDR are key risk factors for POAG, making early diagnosis critical for treatment. Due to the genetic nature of these factors, a PRS could prove useful in pinpointing individuals who are most susceptible.

The study involved participants from the Busselton Health Study (BHAS) in Western Australia, as well as data from the UK Biobank. In total, it analyzed 4,839 individuals for IOP PRS validation and 1,588 for VCDR PRS validation, including diverse ancestry groups. Researchers calculated the variance explained by the baseline model and the new PRS.

Results showed that the PRS accounted for significantly more variance in VCDR and IOP compared to the baseline model. The new VCDR PRS explained 22.0% of the variance in adjusted VCDR in the CLSA dataset, while the IOP score accounted for 12.9%. In the BHAS dataset, the VCDR PRS explained 19.7% of the variance in adjusted VCDR.

However, limitations were noted in the study. The PRS was primarily based on European ancestry samples, which may limit its accuracy for individuals of other ancestries. The authors suggest that further research is needed to improve applicability for African populations, as IOP variations can differ among genetic groups.

Overall, the study underscores the value of utilizing updated genome-wide association study data to develop PRS that can enhance the prediction of glaucoma risk, aiding in the management and prevention of this debilitating condition.