Genes behind major cause of blindness discovered
London: Singapore scientists have identified three new genes associated with Primary Angle Closure Glaucoma (PACG), a leading cause of blindness.
PACG affects 15 million people worldwide, 80 percent of whom live in Asia.
The study was conducted collaboratively by scientists from the Singapore Eye Research Institute (SERI)/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.
The team of scientists led an international consortium that carried out a genome-wide association study (GWAS) of 1,854 PACG cases and 9,608 controls of over five sample collections in Asia. They performed validation experiments in another 1,917 PACG cases and 8,943 controls collected from a further six sample collections from around the world.
A total of 1,293 Singaporeans with PACG and 8,025 Singaporean controls were enrolled in this study. This work is the first to study PACG genetics using a genome-wide perspective.
This finding confirms the long-standing suspicion of Professor Aung Tin, the lead Principal Investigator of this project, who is Senior Consultant and Head of Glaucoma Service at SNEC, Deputy Executive Director at SERI, and Professor of Ophthalmology at NUS.
Prof Aung has worked on PACG for over 10 years and believes from clinical observations that the disease is strongly hereditary.
“This provides further evidence that genetic factors play a role in development of PACG,” said Prof Aung.
“It is a major achievement for our Singapore team leading the largest international consortium of doctors and scientists involved in glaucoma research. The results may lead to new insights into disease understanding and open the possibility of novel treatments in the future as well as the potential of early identification of people at risk of the disease,” the researcher noted.
The discovery was published in the prestigious scientific journal, Nature Genetics.