New breakthroughs in glaucoma research have identified four genetic variants linked to the risk of developing the disease, researchers reported last night.
A team of international group of scientists found that variants in the ABCA1 gene, which help to strengthen cell membranes by regulating cellular cholesterol and lipid metabolism, play a role in the determination of intraocular pressure (IOP).
IOP is usually measured by an ‘air puff’ test at an optician’s and is a major risk factor for the development and worsening of glaucoma and is the only treatable element of the disease.
Last year, a research team led by London’s Moorfields Hospital consultant Ananth Viswanathan, discovered that variants in the ICA1 gene, also involved in lipid metabolism, are strongly related to IOP level.
Mr Viswanathan said: “The discoveries are significant because they improve our understanding of the risk of this serious disease and may lead to better treatments.”
The findings of those studies – and two further studies on glaucoma – have been published in Nature Genetics.
The latest research, published last week, compared glaucoma patients to healthy control subjects to detect genetic differences.
Mr Viswanathan, who was co-author of 1 of the studies, identified sequence variations of the ABCA1 gene as playing a role in the disease.
This finding also contributed to the third published study, submitted by a group of scientists from Asian institutions and investigating the genetic basis of glaucoma in East Asians.
“These studies not only confirm the findings of previous work, but the new finding of a consistent implication of the ABCA1 gene in the determination of IOP and glaucoma, which points to lipid metabolism as a key metabolic pathway in the disease and in the disease course,” he said.
He said the works had also highlighted new associated risk factors. The study supported the theory that the thickness of the cornea, the front window of the eye, might be independently related to IOP.
“This is because we found that variants in the FNDC3B gene, which we know is associated with corneal thickness, are involved in the determination of IOP even when the biasing effect of corneal thickness is taken into account,” said Mr Viswanathan.
Leave a Reply