Scientists discover genes associated with PACG

Scientists discover genes associated with PACG

Scientists in Singapore have identified three genes that are involved in Primary Angle Closure Glaucoma (PACG), a leading cause of blindness in Chinese people.

PACG is known to affect around 15 million people in the world, 80 per cent of whom live in Asia, and is a type of glaucoma where loss of vision progresses very quickly.

The discovery, published in the scientific journal Nature Genetics, was conducted collaboratively by researchers from the Singapore Eye Research Institute (SERI) and the Singapore National Eye Centre (SNEC), Genome Institute of Singapore (GIS), National University of Singapore (NUS), National University Hospital’s Department of Ophthalmology and Tan Tock Seng Hospital.

An international consortium carried out a genome-wide association study of 1,854 people with the condition and 9,608 controls of over five sample collections in Asia.

Professor Aung Tin, the lead principal investigator on the project, who is senior consultant and head of glaucoma service at SNEC, deputy executive director at SERI, and the professor of ophthalmology at NUS has been investigating the hereditary nature of PACG for ten years.

"One of the genes affects vascular permeability, and the other gene is a collagen-related gene. But the third gene, we do not know what it does," the professor explained.

Researchers found that having the first gene makes a person 30 per cent more susceptible to the disease, the second 50 per cent more susceptible and those with all three increase their risk of developing the condition by 300 per cent.

The research team said the glaucoma research study will be the start of more to come, especially in dealing with the treatment of PACG, which has a significant impact on the population in Asia

Professor Tin said: "We hope that with these findings... we will be able to better identify people at risk for the disease, so that we can intervene, and do a preventive treatment for them. We (also) hope that these findings will lead us to improve our understanding of disease mechanism and causation so that in the future we can develop novel therapies for the condition." ADNFCR-1853-ID-801443217-ADNFCR

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