Genetic marker discovered for IOP

This article was published in Optometry, the UK Association of Optometrists professional journal.

It is of interest because in future it may be possible to better assess an individual’s risk of developing Glaucoma, perhaps even the severity of the disease if they do.

Research led by a Moorfields consultant has identified a common genetic marker for elevated intraocular pressure (IOP) – a major risk factor for the development and progressive worsening of glaucoma. It is of particular relevance as the only effective treatments for glaucoma work by lowering IOP.

The research was funded by the Wellcome Trust charitable foundation and could eventually enable the more effective identification of people at risk of raised IOP, as well as the development of new treatments for glaucoma, which affects 60 million people worldwide.

The findings of the five-year Genome Wide Association Study (GWAS) study were published in the journal Human Molecular Genetics. The £2m study was led by Moorfields consultant and ophthalmic surgeon Ananth Viswanathan, based on work by an international group of scientists and ophthalmologists from 37 different centres.
“The identification of the marker represents a significant milestone in the understanding of the genetic basis of glaucoma, the commonest cause of irreversible blindness worldwide,” said Mr Viswanathan.
“Our study identified that 99% of people will have the variant on at least one strand of their DNA, while 77% will have it on both. Using knowledge from epidemiology of the effect of IOP on glaucoma risk and risk of worsening, we estimated that each copy of the variant increases the risk of developing glaucoma by 8%, and in established glaucoma each copy gives an extra 6% likelihood of significant visual loss.
“The gene implicated is involved in a metabolic process known as vesicle handling. We know this is how the aqueous humour leaves the eye so the finding sheds light on the biological processes involved and may lead to new drug targets. Another group looking at glaucoma, not specifically IOP, also found genes elsewhere on the genome involved in vesicle handling, so an interesting picture is emerging.”

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