A genome-wide association study of 34,179 primary open-angle glaucoma (POAG) cases has identified 44 previously unreported risk loci for the condition.
The study by Australia's QIMR Berghofer Medical Research Institute and Harvard Medical School in the US, focused on multiple ethnic groups, where previous studies have tended to focus on individuals from a single ancestry group. It brings the total number of known genes associated with glaucoma risk to 127. Three of the new loci have also been implicated in Alzheimer’s disease and dementia.
Researchers noted that at least 16 of the loci identified are already the targets of eye medications in development or on the market. One such locus, COL4A1, is targeted by ocriplasmin, a collagen hydrolytic enzyme currently used to treat vitreomacular adhesion. Clinical trials are underway to evaluate ocriplasmin’s potential application in treating macular degeneration, diabetic macular oedema, macular hole and retinal vein occlusion.
