No genetic link between myopia, primary open-angle glaucoma
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Researchers based in the Netherlands, Australia, the U.K. and the U.S. reported that there was no genetic correlation between myopia and primary open-angle glaucoma.
Data for this study came from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) and the Rotterdam Study (RS).
The researchers looked at 798 advanced cases of primary open-angle glaucoma (POAG) and 1,992 unscreened control cases from ANZRAG, which examines genetic risk factors of glaucoma development. They also looked at 10,792 participants with POAG-related quantitative traits from the RS, an ongoing study in the Netherlands that examines factors in disease incidence and development in people 55 years old and older.
The researchers analyzed the data to determine the relationship between myopia polygenic risk scores (PRSs) and POAG and its endophenotypes. Additionally, they investigated the connection between the diseases using the linkage disequilibrium score regression (LDSC) method.
According to the study, myopia PRSs and POAG were not associated with each other in the data collected from ANZRAG. The RS analysis showed the strongest association between myopia PRSs and disc area (highest R2 0.27%, P = 1.6 x 10-9). The investigators also “found suggestive associations between PRSs for myopia and IOP with an average R2 of 0.02%” in their RS analysis. After adjusting their testing multiple times, researchers found these associations to be insignificant.
Although the researchers found no correlation between myopia and POAG, they “did observe a nominal association between PRSs for myopia and IOP in the high myopia subgroup, and a nominal association between PRSs for myopia and RNFL [retinal nerve fiber layer].”
The investigators concede that their findings may be limited because most of the participants were of European descent. Therefore, the results of the study may not be applicable in studies of rare variants of genetic eye disorders. – by Kalie VanDewater
Disclosures: The authors report no relevant financial disclosures.
Perspective
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Doug Rett, OD, FAAO
Is myopia a risk factor for primary open-angle glaucoma? Many population studies have told us the answer is yes. Still, there doesn’t seem to be much evidence for a definitive mechanism, and several other major studies (like Ocular Hypertension Treatment Study) have told us there is no link. Perhaps older studies simply linked the larger cup-to-disc ratio in myopes with a risk?
This study takes on the question in an interesting way: by looking at a relatively new data point in research —PRSs — and looking for association with POAG and myopia. To determine a PRS of a certain disease, the patient’s genome is analyzed to find if they have certain genetic variants at certain loci. Clinicians should welcome this new genetic research into our body of knowledge.
As far as limitations, the authors admit their study consists mainly of individuals of European ancestry and might not generalize to other populations. And although clinicians in 2020 might not order a full genome screening when large cupping is detected, knowing this well-designed study found no correlation with myopia and POAG is important. Although this article might not end the myopia-POAG debate for good, their scientific approach and results demand our attention.
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