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No genetic link between myopia and glaucoma

Australian researchers have featured prominently in research efforts that have determined no genetic link between myopia and primary open-angle glaucoma (POAG).

Their finding is based on data from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) and the Rotterdam Study (RS), an ongoing study in the Netherlands that examines factors in disease incidence and development in people aged 55 and older.

Many population studies have previously reported myopia is a risk factor for POAG, but a lack of evidence coupled with several other major studies, such as the Ocular Hypertension Treatment Study, have found no link.

This latest study investigated a relatively new data point in research – polygenic risk scores – and looked for association with POAG and myopia.

To determine a polygenic risk score of a certain disease, the patient’s genome is analysed to find if they have certain genetic variants at certain loci.

The researchers, based in the Netherlands, Australia, the UK and the US, looked at 798 advanced cases of 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.

The researchers analysed the data to determine the relationship between myopia polygenic risk scores and POAG and its endophenotypes.

According to the study, which was published in Investigative Ophthalmology and Visual Science, myopia polygenic risk scores and POAG were not associated with each other in the data collected from ANZRAG. The RS analysis showed the strongest association between myopia polygenic risk scores and disc area.

Although the researchers found no correlation between myopia and POAG, they did observe a nominal association between polygenic risk scores for myopia and intraocular pressure in the high myopia subgroup, and a nominal association between polygenic risk scores for myopia and retinal nerve fibre layer.

The investigators conceded that their findings may be limited because most of the participants were of European descent.

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