Researchers identify genetic markers for increased risk of developing glaucoma – the sneak thief of sight

Researchers identify genetic markers for increased risk of developing glaucoma – the sneak thief of sight

Research that originated almost 25 years ago in Tasmania has helped a team of Australian researchers to identify over 50 new gene markers that increase a person’s risk of developing glaucoma, which is the leading cause of irreversible blindness.

Elevated intraocular pressure is commonly associated with an increased risk of developing glaucoma. The study, which now includes more than 134,000 people from around the world, found 101 genetic markers that influence the fluid pressure in a person’s eye, including 85 not known previously.  

From its beginnings as the Glaucoma Inheritance Study in Tasmania (GIST), established by Professor David Mackey at the University of Tasmania in the 1990s, the recent study is the largest genetic study of glaucoma performed to date and involved participants from throughout Australia, the United Kingdom and around the world.  It was led by the QIMR Berghofer Medical Research Institute in Queensland in collaboration with the University of Tasmania’s Menzies Institute for Medical Research and the Flinders Centre for Ophthalmology, Eye and Vision Research in South Australia, and involved ophthalmologists from around Australia.

Professor Alex Hewitt, who is a senior author on the study and a clinical researcher at the Menzies Institute for Medical Research, said glaucoma was the leading cause of irreversible blindness in our community and was largely preventable through timely treatment.

“All the currently available treatments aim to reduce the pressure in the eye. This new work is important because we have identified a number of new genes that could be targeted as new therapies,” Professor Hewitt said. 

“Although a predictive test for glaucoma is not available yet, our new research will improve our ability to identify people at risk of developing glaucoma and this takes us one step closer to a preventative treatment that could stop people from going blind as they age.”

Glaucoma has been labelled the sneak thief of sight because it is generally asymptotic in the early stages of the disease.

“Early treatment is vital because once a person experiences vision loss, it is impossible to reverse.

“We are very grateful to many patients and their family members who have contributed to this research. Without their participation, new insights into this potentially blinding disease would not be possible,” Professor Hewitt said.

The study showed that individuals with a large number of genetic markers had an almost six-fold increased risk of developing glaucoma compared to someone who had fewer gene variants.

In Australia, primary open-angle glaucoma is one of the most common causes of vision loss, affecting approximately 3% of people over 50 years of age. This is particularly important in Tasmania, which has a higher proportion (46%) of people aged 45 years and over than Australia as a whole (40%).

The study, published in Nature Genetics, used genetic information of participants from the UK Biobank and the International Glaucoma Genetic Consortium. It involved multiple clinicians, hospitals and institutions across Australia and New Zealand. Menzies genetics researcher Associate Professor Kathryn Burdon is also an author on the paper.

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

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