1. Scientists at Singapore Eye Research Institute and A*STAR’s Genome Institute of Singapore have succeeded in identifying genes for central corneal thickness that may cause potentially blinding eye conditions. These eye conditions include glaucoma, as well as the progressive thinning of the cornea, which may eventually lead to a need for corneal transplantation.
2. The authors jointly led a multi-centre study involving 55 hospitals and research centres around the world. They performed a meta-analysis on more than 20,000 individuals in European and Asian populations. Their findings were published in the prestigious science journal, Nature Genetics (6 January, 2013).
3 Central corneal thickness (CCT) is associated with potentially blinding eye conditions such as keratoconus, a condition where the cornea progressively thins and takes on a more conical shape that may eventually require transplantation. CCT has an estimated heritability up to 95% and may determine the severity of one’s glaucoma and assist eye doctors in identifying patients with high risk for progression. In fact, it is one of the leading causes of corneal transplantation worldwide.
4 The Singapore team has had remarkable success identifying the most CCT-associated loci to date prior to this collaborative world-wide effort, by identifying 6 distinct genetic loci in two papers published in 2011 and 2012 via sample collections involving Singaporean Chinese, Indians, and Malays, as well as Beijing Chinese. However, none was found to be associated with common eye diseases like this study has now shown. Overall this new study identified a total of 27 associated loci, including 6 for the keratoconus.
5 These observations suggest that most of the CCT-associated loci identified from populations of European descent are shared with Asian populations. These findings show that Singapore is well placed globally in eye and genetics research in finding causes for sight threatening conditions. Eye doctors can in the future through genetic analysis better manage such patients, preventing regression of their conditions.
6 Prof Aung Tin, Deputy Director, Singapore Eye Research Institute (SERI) and a senior consultant ophthalmologist and Head of Glaucoma Service at Singapore National Eye Centre and a co-author of the paper, said, “This was a tremendous achievement, involving many centres from several countries around the world. Singapore played a major role in this work, especially SERI's population based studies of 10,000 Chinese, Malay and Indian people.”
7 Assoc Prof Eranga Vithana, Associate Director, Basic and Experimental Sciences, SERI and a co-author of the paper, said, “This paper identified 6 novel genetic variants that confer increased risk of keratoconus, a condition for which genes were not very forthcoming prior to this study. It once again underlined the inevitability of large scale collaborative studies to unravel genes for common complex diseases and also the advantage of having well characterized large cohorts.”
8 Assistant Professor Khor Chiea Chuen, Principal Investigator, Division of Human Genetics, Genome Institute of Singapore-an institute of the Agency for Science, Technology and Research (A*STAR) and the paper’s co-lead author, said, “Yet again, this paper underscores the power of modern genetic approaches studied in 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.”
9 Prof Ng Huck Hui, Executive Director of the Genome Institute of Singapore said, "I am very pleased that the Genome Institute of Singapore is a part of an international effort to dissect the genetics of eye conditions such as keratoconus and glaucoma. Genomics remains a very powerful tool to identify the link between genetic variations and phenotypes. This study that focuses on central corneal thickness illustrates the value of large scale genetics studies in identifying potential pathways that underlie specific human phenotypes."
10 Prof Wong Tien Yin, Executive Director of SERI and Chair, Dept of Ophthalmology, National University Health System (NUHS) and the paper’s senior corresponding author said, “The investment of SERI in population-based studies over the past decade is now paying off with major discoveries in the causes of common eye diseases. This is a team effort and included more than 50 over clinicians, clinician-scientists, research scientists, research staff, statisticians and most importantly, our patients, who have contributed to the collection of these samples.”
11 Adjunct Assoc Prof Jodhbir S Mehta, Head and Senior Consultant, Cornea Service at Singapore National Eye Centre said, “This is a great achievement in collaborative research and offers new insights into keratoconus.”
For more information, please contact:
SERI - SNEC
Singapore National Eye Centre
Tel : 6322 8394
Genome Institute of Singapore
Office of Corporate Communications
Tel: (65) 6808 8013
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, National University of Singapore, as well the Duke-NUS Graduate Medical School, SERI undertakes vision research in collaboration with local clinical ophthalmic centres and biomedical research institutions, as well as major eye centers and research institutes throughout the world.
About Singapore National Eye Centre (SNEC)
Singapore National Eye Centre (SNEC) was incorporated in 1989 and commenced operations in 1990. It is the designated national centre within the public sector healthcare network, and spearheads and coordinates the provision of specialised ophthalmological services with emphasis on quality education and research.
Since its opening in 1990, SNEC has achieved rapid growth and currently manages an annual workload of 275,000 outpatient visits, 2800 major eye surgeries and laser procedures.
Ten subspecialties in Cataract, Corneal and External Eye Disease, General Cataract and Comprehensive Ophthalmology, Glaucoma, Neuro-Ophthalmology, Oculoplastic and Aesthetic Eyeplastic, Paediatric Ophthalmology and Strabismus, Refractive Surgery, Ocular Inflammation and Immunology and Vitreo-Retina have been established to provide a full range of eye treatment from comprehensive to tertiary levels for the entire spectrum of eye conditions
About the Agency for Science, Technology and Research (A*STAR)
The Agency for Science, Technology and Research (A*STAR) is Singapore's lead public sector agency that fosters world-class scientific research and talent to drive economic growth and transform Singapore into a vibrant knowledge-based and innovation driven economy. In line with its mission-oriented mandate, A*STAR spearheads research and development in fields that are essential to growing Singapore’s manufacturing sector and catalysing new growth industries. A*STAR supports these economic clusters by providing intellectual, human and industrial capital to its partners in industry. A*STAR oversees 20 biomedical sciences and physical sciences and engineering research entities, located in Biopolis and Fusionopolis as well as their vicinity. These two R&D hubs house a bustling and diverse community of local and international research scientists and engineers from A*STAR’s research entities as well as a growing number of corporate laboratories. Please visit www.a-star.edu.sg.
About the Genome Institute of Singapore
The Genome Institute of Singapore (GIS) is an institute of the Agency for Science, Technology and Research (A*STAR). It has a global vision that seeks to use genomic sciences to improve public health and public prosperity. Established in 2001 as a centre for genomic discovery, the GIS will pursue the integration of technology, genetics and biology towards the goal of individualized medicine. The key research areas at the GIS include computational & 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. The genomics infrastructure at the GIS is utilized to train new scientific talent, to function as a bridge for academic and industrial research, and to explore scientific questions of high impact. Please visit www.gis.a-star.edu.sg.
About the National University Health System (NUHS)
The National University Health System (NUHS) groups the National University Hospital (NUH), the NUS Yong Loo Lin School of Medicine, the NUS Faculty of Dentistry and the Saw Swee Hock School of Public Health under a common governance structure to create synergies to advance health by integrating clinical care, research and education.
The enhanced capabilities and capacity will enable the NUHS to deliver better patient care, train future generations of doctors more effectively and bring innovative treatments to patients through groundbreaking research.