September 5, 2012
Gene Found In Glaucoma Largely Affects Asian Populations
Connie K. Ho for redOrbit.com — Your Universe Online
A group of scientists from Singapore recently discovered three new genes related to Primary Angle Closure Glaucoma (PACG), which is one of the main causes of blindness for Chinese people.The new findings, recently published in the scientific journal Nature Genetics, will assist 15 million people throughout the globe who suffer from the disease.
“This provides further evidence that genetic factors play a role in development of PACG,” explained lead principal investigator Aung Tin, a professor of ophthalmology at NUH and deputy executive director at SERI who has studied PACG for over 10 years, in a prepared statement. “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.”
80 percent of these 15 million who have PACG reside in Asia and the results can be very beneficial to medical experts who work with this particular population.
“This is a landmark study identifying three genes that contribute to angle-closure glaucoma, a form of glaucoma that is particularly common in Asians. These data are the first critical steps toward a better understanding of the underlying molecular events responsible for this blinding disease,” mentioned Janey Wiggs, the Paul Austin Chandler Associate Professor of Ophthalmology at Harvard Medical School, in the statement.
The study was a collaborative effort by scientists hailing from the Singapore Eye Research Institute (SERI), Singapore National Eye Centre (SNEC), the Genome Institute of Singapore (GIS), the National University of Singapore (NUS), National University Hospital´s (NUH) Department of Ophthalmology and the Tan Tock Seng Hospital (TTSH).
“This is a landmark finding, and may potentially change how we view PACG as a disease with genetic links. It highlights how a collective effort from scientists and clinicians and clinician-scientists can unravel diseases of major importance to Singapore. Because this disease is more common in Asians than in the Western populations, such studies will not be done in the US/Europe. This study has to be done in Asia as it is a disease with more implication for Asians. As such, Singapore has led the way forward,” noted Wong Tien Yin, executive director of SERI as well as head and chair professor of the Department of Ophthalmology at NUHS, in the statement.
The group of investigators completed a genome-wide association study (GWAS) of 1,854 PACG cases and 9,608 controls of more than five sample collections throughout Asia. Another 1,917 PACG cases received validation experiments and 8,943 controls were taken from another six sample collections on a global scale. 1,293 Singapore residents with PACG and 8,025 Singaporean controls were part of the study.
The results helped show that the disease is very much hereditary.
“This is an exemplary demonstration of the potential power in genomics being used to dissect complex human diseases with hereditable predispositions. The collaboration between SERI and GIS is synergistic in many broad aspects, and it marries core strengths from both institutions,” remarked Ng Huck Hui, the acting executive director of GIS, in the statement.
In moving forward, the scientists hope to use the findings to better understand how to create new treatments for glaucoma.
“The information on genes involved in PACG has also opened up new and exciting research areas for us that we hope will culminate in new treatment modalities for angle closure glaucoma in the future,” commented lead author Dr. Eranga Vithana, an associate director of Basic and Experimental Sciences at SERI, in the statement.