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Genetic variants identify glaucoma risk with 75% accuracy

08/08/2018By Matthew Woodley
A new study has led to the discovery of 133 genetic variants that could help predict the risk a person has of developing glaucoma.

Researchers from King’s College London, in collaboration with University College London (UCL), Massachusetts Eye and Ear, and the Harvard School of Medicine, analysed 140,000 people using data from the UK Biobank and The European Prospective Investigation of Cancer, Norfolk (EPIC-Norfolk)

“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 healthcare resources on those most at risk,” lead author Dr Pirro Hysi from King’s College said.

Eye pressure readings were taken from more than 140,000 people and then compared with a DNA analysis of each patient to assess how likely it was that they would develop the condition.


“With this new knowledge, we are now more able to predict the risk of an individual developing glaucoma.”
Anthony Khawaja, UCL

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.

“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,” study co-author Dr Anthony Khawaja said.

“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.”

The researchers said the study demonstrated the power of large datasets in helping identify important genetic risk factors, while adding that the findings could pave the way for genetic-based screening programs, which would provide early diagnosis and medical intervention.

The findings were published in Nature Genetics.

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