Researchers Discover Genes for Glaucoma

By Petrina Smith
Tuesday, 02 September, 2014

glaucomaWestern Australian researchers have played an important role in a major international collaboration to discover genes for glaucoma, the second leading cause of blindness.


 Professor David Mackey, from the Lions Eye Institute at The University of Western Australia, said that in addition to helping predict those at risk of glaucoma, the discovery had opened avenues for developing new treatments for glaucoma.
Professor Mackey led the WA team on two papers published today in the prestigious journal Nature Genetics.
“The main gene we discovered, ABCA1 is also involved in with the levels of HDL cholesterol, which is the “good cholesterol” and this might explain some of the association of increased heart disease with glaucoma,” he said.
Using two different strategies the researchers identified the same gene associated with glaucoma.  Firstly, investigating the intra-ocular pressure (which is a risk factor for glaucoma) the International Glaucoma Genetics Consortium combined data from large population studies which included the Western Australian Pregnancy (Raine) cohort.
Professor Mackey said the 1350 Raine study participants had their eyes examined when they were aged 20.  Although none of the Raine study members had glaucoma the genes that cause subtle variation in the healthy pressures also seem to be involved with glaucoma, he said.
In the second study, Western Australians with severe glaucoma, who had gone blind in one eye participated in the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) led by Professor Jamie Craig in Adelaide.  Genetic analysis of Australians from ANRAG, the Blue Mountains Eye Study and the American “NEIGHBORHOOD” study identified three new genes for glaucoma including the ABCA1.
Professor Mackey said the study was an example of how researchers from Australia and around the world were working together to tackle the problem of understanding the mechanisms of eye diseases.  It also allowed scientists and clinicians to work together to develop new tests and treatments to prevent blindness.
People with glaucoma who wish to participate in the ongoing research can contact ANZRAG or Professor Mackey at the Lions Eye Institute in Perth, (08) 9381 0779.
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