Singapore scientists find genes associated with glaucoma

September 3, 2012

Singapore scientists have identified three new genes associated with Primary Angle Closure Glaucoma (PACG), a leading cause of blindness in Chinese people. PACG affects 15 million people worldwide, 80% of whom live in Asia.

The discovery, published in the prestigious scientific journal, Nature Genetics, on 26 August 2012, 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 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."

Prof Wong Tien Yin, Executive Director at SERI and Provost's Chair Professor and Head, Department of Ophthalmology, NUHS, said, "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."

Dr Khor Chiea Chuen, Principal Investigator, Human Genetics, at GIS added, "Modern genomics is a very powerful tool in dissecting the hereditable basis of common human diseases. It gives all of us a ray of hope, however far-fetched it may be, that one day we will be able to tailor treatments based on individual genetic profile."

"The information on 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," Said Dr Eranga Vithana, Associate Director, Basic and Experimental Sciences at SERI, and lead author of the paper.

Prof Janey Wiggs, Paul Austin Chandler Assoc. Professor of Ophthalmology, Harvard Medical School added, "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."

Explore further: Study links genes to common forms of glaucoma

More information: The research findings described in the press release can be found in the 26 August 2012 advance online issue of Nature Genetics under the title "Genome-wide association analyses identify three new susceptibility loci for Primary Angle Closure Glaucoma".

Related Stories

Study links genes to common forms of glaucoma

April 26, 2012
Results from the largest genetic study of glaucoma, a leading cause of blindness and vision loss worldwide, showed that two genetic variations are associated with primary open angle glaucoma (POAG), a common form of the disease. ...

World-first glaucoma gene discovery

May 2, 2011
(Medical Xpress) -- An Australian research team led by Flinders University researchers has discovered two new genes that could open the way to new treatments for blinding glaucoma.

Breakthrough treatment reduces post-surgical scarring for glaucoma patients

July 26, 2012
(Medical Xpress) -- Scientists at the Singapore Eye Research Institute (SERI) and Nanyang Technological University (NTU) have developed an innovative way to combat post-surgical scarring for glaucoma patients.

Experts identify critical genes mutated in stomach cancer

April 8, 2012
An international team of scientists, led by researchers from the Duke-NUS Graduate Medical School (Duke-NUS) in Singapore and National Cancer Centre of Singapore, has identified hundreds of novel genes that are mutated in ...

Scientists perform large asian genome-wide association study on kidney disease

December 29, 2011
Singapore and China scientists, headed by Dr Liu Jianjun, Senior Group Leader and Associate Director of Human Genetics at the Genome Institute of Singapore (GIS) and Dr Yu Xueqing, a nephrologist at the 1st Affiliated Hospital ...

Recommended for you

Gene variant activity is surprisingly variable between tissues

August 21, 2017
Every gene in almost every cell of the body is present in two variants called alleles—one from the mother, the other one from the father. In most cases, both alleles are active and transcribed by the cells into RNA. However, ...

Genome analysis with near-complete privacy possible, say researchers

August 17, 2017
It is now possible to scour complete human genomes for the presence of disease-associated genes without revealing any genetic information not directly associated with the inquiry, say Stanford University researchers.

Science Says: DNA test results may not change health habits

August 17, 2017
If you learned your DNA made you more susceptible to getting a disease, wouldn't you work to stay healthy?

Genetic variants found to play key role in human immune system

August 16, 2017
It is widely recognized that people respond differently to infections. This can partially be explained by genetics, shows a new study published today in Nature Communications by an international collaboration of researchers ...

Phenotype varies for presumed pathogenic variants in KCNB1

August 16, 2017
(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders

August 16, 2017
Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.