Features

Sighting the genetic variants of eye diseases

26 Feb 2013

In a world’s first, Singaporean scientists have discovered the genes responsible for cornea blindness, providing valuable information for treatment and prevention of degenerative eye diseases

Eye of a patient suffering from keratoconus. The structure of the cornea is affected, potentially leading to a bulging eye and vision problems.

Eye of a patient suffering from keratoconus. The structure of the cornea is affected, potentially leading to a bulging eye and vision problems.

© 2013 Singapore National Eye Centre

In a new study, researchers at A*STAR’s Genome Institute of Singapore (GIS) and the Singapore Eye Research Institute (SERI) successfully identified the genes involved in central corneal thickness (CCT). CCT can result in potentially eye-blinding conditions such as keratoconus, a degenerative disorder in which the cornea changes to a conical shape, and glaucoma, where damage to the optic nerve leads to permanently impaired vision. Uncovering specific genes associated with CCT would therefore be most valuable in assisting eye doctors to promptly diagnose patients with high risk for progression.

The GIS’s collaborator in this study, SERI, is the national institute for ophthalmic and vision research in Singapore. SERI works with local clinical ophthalmic centers and biomedical research institutions, as well as major eye centers and research institutes throughout the world. The international research team, led by Deputy Director of SERI and Head of Glaucoma Service at Singapore National Eye Centre, Tin Aung, consisted of over 50 clinicians, clinician-scientists, research scientists, research staff and statisticians. A meta-analysis of more than 20,000 individuals in European and Asian populations was conducted with 16 new loci — the specific location of a gene on a chromosome — associated with CCT being identified. “It has been a tremendous achievement spanning extensive global efforts, with Singapore playing a major role particularly in SERI’s population based studies of 10,000 Chinese, Malays and Indians,” explains Aung.

Prior to this extensive global collaborative effort, the Singaporean team achieved considerable success by identifying six distinct genetic loci. Samples were collected from local Chinese, Indians and Malays, as well as Chinese populations in Beijing between 2011 and 2012. However, within the sampled populations, no genes were demonstrated to be associated with common eye diseases, suggesting that most of the CCT-associated loci identified from populations of European descent are shared with Asian populations. The findings prompted the researchers to establish partnerships worldwide in order to expand the scope of study.

“We demonstrated the inevitability of large scale collaborative studies to unravel genes for common complex diseases and also the advantage of having well characterized large cohorts,” says Eranga Vithana, associate director of SERI. The global collaborative efforts paid off. Their discovery, undoubtedly a world’s first, culminated in a publication in the prestigious journal Nature Genetics (see Eye disease: Opening our eyes to glaucoma).

“Yet again, this study underscores the power of modern genetic approaches used with very large sample sizes in revealing the hereditable basis of normal human traits, and how the extremes of which may give rise to common diseases,” says Khor Chiea Chuen, principal investigator of the Division of Human Genetics at GIS, and the paper’s co-lead author.

This recent achievement is a clear testament to Singapore’s position as an important eye and genetics global research hub. Going forward, eye doctors can detect degenerative eye conditions earlier and better manage patients through genetic analysis to regress deteriorating conditions. Ng Huck Hui, executive director of the GIS, sums it up: “Genomics remains a very powerful tool to identify the link between genetic variations and phenotypes.”

About the Genome Institute of Singapore

The A*STAR Genome Institute of Singapore (GIS) has a global vision that seeks to use genomic sciences to improve public health and public prosperity. Established in 2001 as a center for genomic discovery, the GIS is pursuing the integration of technology, genetics and biology towards the goal of individualized medicine. The key research areas at the GIS include computational and systems biology, stem cell and developmental biology, cancer stem cell biology, cancer therapeutics and stratified oncology, human genetics, infectious diseases, genomic technologies and translational technologies.

About the Singapore Eye Research Institute (SERI)

SERI is the national research institute for ophthalmic and vision research in Singapore. Serving as the research institute of the Singapore National Eye Centre, and directly affiliated to the Yong Loo Lin School of Medicine, the National University of Singapore, as well the Duke-NUS Graduate Medical School, SERI undertakes vision research in collaboration with local clinical ophthalmic centers and biomedical research institutions, as well as major eye centers and research institutes throughout the world.

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This article was made for A*STAR Research by Nature Research Custom Media, part of Springer Nature