The results of a landmark international gene discovery to identify people at high risk of developing glaucoma have just been released.
deCODE genetics Inc in Iceland approached Associate Professor Jamie Craig, from the Department of Ophthalmology at South Australia’s Flinders University, to test for replication in the Australian population of results from its Icelandic study. The DNA of more than 2,000 Australians was scanned for the study.
Dr. Craig sourced participants primarily from a research project he leads, the Australian and New Zealand Registry of Advanced Glaucoma, which is funded by The Eye Foundation. The Registry was established to find ways, through surveillance and DNA research, to identify people at high risk of developing glaucoma so that they can be diagnosed before they start losing vision.
“With funding from The Eye Foundation and the National Health and Medical Research Council, we are carrying out unique research into glaucoma blindness. This discovery is a major breakthrough for us as well as for deCODE,” Dr. Craig said.
With funding from The Eye Foundation and the National Health and Medical Research Council, we are carrying out unique research into glaucoma blindness. This discovery is a major breakthrough for us as well as for deCODE
He supported the international project by providing 1,100 glaucoma cases and 1,000 controls, which was the second biggest population group after Iceland, in a study including groups from Hong Kong, Sweden and the United Kingdom.
deCODE’s genome-wide association study of 1,300 patients in Iceland who have the most common type of glaucoma (primary open angle glaucoma, or POAG), plus 34,900 controls, identified a risk variant between the caveolin 1 and 2 genes. This variant is carried by an estimated 20 to 25 per cent of the general population and represents the first common genetic variants contributing to risk for POAG.
“The new gene finding for POAG held across every population studied and is the first major discovery for glaucoma using this kind of methodology. It represents an important step toward a better understanding of this eye disease and a new direction for research that is likely to lead to better diagnostic and predictive tests, as well as new treatments,” said Dr. Craig.
The full results of the survey were published in the science journal, Nature Genetics.