Over 130 #Glaucoma #Gene Variants Could Help Predict #Blindness An international study co-led by UCL has identified 133 #genetic variants that could help predict the risk of developing glaucoma, the world’s leading cause of incurable blindness. The findings, published in Nature #Genetics, are a major advance in the fight to tackle the incurable, degenerative condition, which has virtually no #symptoms in the early stages and affects 480,000 people in England and millions worldwide, and could pave the way for a genetic-based #screeningprogram. “With this new knowledge, we are now more able to predict the risk of an individual developing glaucoma. The predictive #geneticmarkers could be measured as early as birth, even though glaucoma develops later in adulthood,” said co-author Mr Anthony Khawaja (UCL Institute of #Ophthalmology & the NIHR Biomedical Research Centre at Moorfields #Eye Hospital NHS #Foundation Trust). “These results help us to better understand the previously unknown mechanisms that cause this damaging #disease. By understanding how glaucoma develops we can, in time, get ahead of the curve of the condition and support both those living with the disease and those who may develop it,” he added. To better understand the development of glaucoma, #scientists studied 140000 people drawn from the UK Biobank & EPIC-Norfolk. #IOP readings were taken, which were compared with a DNA analysis of each patient, to assess how likely it was that they would develop the condition. Elevated pressure in the eye is the most important risk factor for glaucoma and is created by the continual renewal of fluids within the eye. By comparing the IOP test results with a #geneticanalysis of the many common, small variations in #DNA that contribute a tiny amount to overall #eyepressure, the team was able to identify 133 genetic variants in the DNA of those who had high pressure readings, and were therefore at highest risk of developing the condition. The genetic variations were able to predict whether someone might develop glaucoma with 75% accuracy. https://www.technologynetworks.com/genomics/news/over-130-glaucoma-gene-variants-could-help-predict-blindness-303178 (at New York, New York)
