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Genetic markers for blinding eye disease discovered

06/06/2018By Matthew Woodley • Staff Journalist
An Australian-led study has discovered 19 new genetic markers that could predict whether a person is at a higher risk of eye disease.

The genome-wide study of 25,000 people was conducted by the QIMR Berghofer Medical Research Institute in Queensland, and almost doubled the number of known genetic variants that affect how thick the cornea is, bringing the total number to 45.


“If we mapped more of the genes for corneal thickness, you could predict at birth what a person’s corneal thickness would be with very high accuracy because there are almost no environmental factors that determine it.”
Stuart MacGregor, QIMR Berghofer

Associate Professor Stuart MacGregor, head of the institute’s Statistical Genetics laboratory, said the discovery of the markers could help predict a person’s future risk of corneal thinning and associated diseases such as keratoconus.

“Corneal thickness is remarkable because it is one of the most heritable human traits,” MacGregor explained.

“If we mapped more of the genes for corneal thickness, you could predict at birth what a person’s corneal thickness would be with very high accuracy because there are almost no environmental factors that determine it.

“The discovery of additional genetic markers will help us to reliably predict which people are at a higher risk of keratoconus in the future, which is very exciting.”

MacGregor added that the findings also enhanced understanding of the genetics of connective tissue disorders such as Ehlers-Danlos syndrome, Marfan syndrome and brittle corneal syndrome.

“We are finding there is a lot more overlap between what some of these genetic markers do and what was previously thought. These discoveries are exciting because they tell us what features could be important in the development of new treatments,” he said.

Another revelation from the research was that it didn’t find an association between glaucoma and low corneal thickness – which is often considered to be a risk factor for developing the disease.

“Our findings indicate that there is probably no link between corneal thickness and glaucoma. Instead, it’s likely the thickness of the cornea affects our ability to measure the pressure of the eye,” MacGregor said.

The study used data from more than 2,000 Australian twins who took part in QIMR Berghofer’s Q-Twin study, which started in 1990, as well as from other collaborative international studies. It also included data from the general population, as well as from patients of either European or Asian ancestry who had keratoconus or glaucoma.

More reading: The full study.



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