A study led by scientists from King's College London, University College London, Massachusetts Eye and Ear and Harvard Medical School has identified 133 genetic variants that could help predict the risk of developing glaucoma, the world's leading cause of incurable blindness.
The breakthrough represents 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 screening program.
To better understand the development of glaucoma, scientists studied 140,000 people drawn from the UK Biobank and EPIC-Norfolk. Eye pressure 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 pressure test results with a genetic analysis of the many common, small variations in DNA that contribute a tiny amount to overall eye pressure, the team was able to identify 133 genetic variants in the DNA of those who had high pressure readings, and so were at highest risk of developing the condition. The genetic variations were able to predict whether someone might develop glaucoma with 75% accuracy.
Lead author, Dr. Pirro Hysi from King's College London, said: 'Knowing someone's genetic risk profile might allow us to predict what risk of glaucoma he or she carries so that in the future we can focus scarce health care resources on those most at risk.'
Co-author Dr Anthony Khawaja from the NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, said: "With this new knowledge, we are now more able to predict the risk of an individual developing glaucoma. The predictive genetic markers could be measured as early as birth, even though glaucoma develops later in adulthood.
'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.'
Dr. Janey Wiggs, co-author from Massachusetts Eye and Ear and Harvard Medical School said, "This study demonstrates the enormous power of large datasets allowing detection of these important genetic risk factors.
'Glaucoma remains the leading cause of incurable blindness in the world, but the hope is that this important piece of research could help millions by leading to faster and more accurate diagnoses in the future.'
There are virtually no symptoms of glaucoma in the early stages and no pain is associated with increased eye pressure. Vision loss begins with the loss of peripheral vision, although this may go unnoticed as sufferers may compensate for this unconsciously, by turning their head to the side and may not notice anything until significant vision is lost.
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Note to editors:
For further information please contact Garfield Myrie in the King's College London press office at: garfield.myrie@kcl.ac.uk / 0207 848 4334
King's College London
King's College London is one of the top 25 universities in the world (2017/18 QS World University Rankings) and among the oldest in England. King's has more than 29,600 students (of whom nearly 11,700 are graduate students) from some 150 countries worldwide, and some 8,000 staff.
King's has an outstanding reputation for world-class teaching and cutting-edge research. In the 2014 Research Excellence Framework (REF), eighty-four per cent of research at King's was deemed 'world-leading' or 'internationally excellent' (3* and 4*).
Since our foundation, King's students and staff have dedicated themselves in the service of society. King's will continue to focus on world-leading education, research and service, and will have an increasingly proactive role to play in a more interconnected, complex world. Visit our website to find out more about Vision 2029, King's strategic vision for the next 12 years to 2029, which will be the 200th anniversary of the founding of the university.
About Massachusetts Eye and Ear
Massachusetts Eye and Ear, founded in 1824, is an international center for treatment and research and a teaching hospital of Harvard Medical School. Specializing in ophthalmology (eye care) and otolaryngology-head and neck surgery (ear, nose and throat care), Mass. Eye and Ear clinicians provide care ranging from the routine to the very complex. Also home to the world's largest community of hearing and vision researchers, Mass. Eye and Ear has pioneered new treatments for blindness, deafness and diseases of the head and neck.
Our scientists are driven by a mission to discover the basic biology underlying these conditions and to develop new treatments and cures. In the 2017-2018 "Best Hospitals Survey," U.S. News & World Report ranked Mass. Eye and Ear #1 in New England for eye (#4 in nation) and ear, nose and throat care (#2 in nation).For more information about life-changing care and research at Mass. Eye and Ear, please visit our blog, Focus, and follow us on Twitter and Facebook.
About Harvard Medical School Department of Ophthalmology
The Harvard Medical School (HMS) Department of Ophthalmology is one of the leading and largest academic departments of ophthalmology in the nation. More than 350 full-time faculty and trainees work at nine HMS affiliate institutions, including Massachusetts Eye and Ear, Schepens Eye Research Institute of Massachusetts Eye and Ear, Massachusetts General Hospital, Brigham and Women's Hospital, Boston Children's Hospital, Beth Israel Deaconess Medical Center, Joslin Diabetes Center/Beetham Eye Institute, Veterans Affairs Boston Healthcare System, VA Maine Healthcare System, and Cambridge Health Alliance. Formally established in 1871, the department has been built upon a strong and rich foundation in medical education, research, and clinical care. Through the years, faculty and alumni have profoundly influenced ophthalmic science, medicine, and literature--helping to transform the field of ophthalmology from a branch of surgery into an independent medical specialty at the forefront of science.
The National Institute for Health Research (NIHR) Moorfields Biomedical Research Centre (BRC) was established in April 2007 and awarded its third five-year term by the NIHR in April 2017. Alongside the NIHR Moorfields Clinical Research Facility (CRF) for Experimental Medicine, our main purpose is to accelerate the progress of biomedical research from the laboratory into early phase safety trials so that scientific breakthroughs that hold promise for patients can proceed along the clinical testing pathway more quickly. Our BRC is one of 20 Biomedical Research Centres awarded to NHS/university partnerships with an outstanding international reputation for research. As a partnership between Moorfields Eye Hospital and UCL Institute of Ophthalmology we are at the centre of one of the largest ophthalmic research sites in the world. For more information go to: http://www.brcophthalmology.org
UCL Institute of Ophthalmology is one of a number of specialised institutes within UCL focusing on vision research and education. It was named the best place in the world to study ophthalmology by the 2017 Centre for World University Rankings and is one of the leading centres for vision and eye research worldwide. The most recent Research Assessment Exercise confirmed the outstanding quality of research carried out at the Institute, with 70 per cent of investigators ranked world leading or internationally excellent. For further information, please visit http://www.ucl.ac.uk/ioo
Moorfields Eye Hospital NHS Foundation Trust is a world-leading provider of eye care services in the UK. We provide a wide range of clinical services, caring for patients in over 30 locations in and around London to provide expert treatment closer to patients' homes. We also operate commercial divisions that provide care to private patients in both London and the Middle East. With our academic partner, the UCL Institute of Ophthalmology, we are recognised as a leading centre of excellence in eye research and education. To find out more go to: http://www.moorfields.nhs.uk
The National Institute for Health Research (NIHR): improving the health and wealth of the nation through research. Established by the Department of Health, the NIHR:
- funds high quality research to improve health
- trains and supports health researchers
- provides world-class research facilities
- works with the life sciences industry and charities to benefit all
- involves patients and the public at every step
For further information go to: https://www.nihr.ac.uk/
Journal
Nature Genetics