A team of scientists from Singapore has discovered two genes from the collagen family which demonstrate strong association with Central Corneal Thickness (CCT). CCT is a risk factor of glaucoma, the most common cause of irreversible blindness worldwide.
The identification of genetic determinants affecting CCT in the population is crucial in helping to provide useful insights into the mechanisms underlying the association between CCT and glaucoma. This will definitely increase knowledge on the pathogenesis of glaucoma.
The study, the largest genome-wide association study (GWAS) ever on CCT and the first in Asia, was jointly conducted by scientists from the Genome Institute of Singapore (GIS), an institute of Singapore’s Agency of Science, Technology and Research (A*STAR), the Singapore Eye Research Institute (SERI), the National University of Singapore (NUS), the Duke-NUS Graduate Medical School, as well as colleagues from the USA and Australia.
Their research, published in Human Molecular Genetics, is the first ever genome-wide study of CCT conducted on Singaporeans on such a massive scale. More than 5,000 individuals were drawn from two ethnic populations in Singapore via the SERI-led landmark, community-based studies that systematically documented the frequency, causes and impact of low vision and major eye diseases in the different racial/ethnic groups in Singapore.
The two ethnic populations were the Malays and Indians, drawn from the Singapore Malay Eye Study (SiMES), which successfully looked at 3,280 of Singapore’s Malay population from 2004 to 2006, and the Singapore Indian Eye Study (SINDI) that examined 3,400 Singapore Indians between 2007 and 2009.
“GWAS have been conducted primarily in European populations, and an interest in the Asian populations is only just beginning to emerge. The Singapore population has, until now, been untouched by GWAS efforts. This is our first attempt at assembling a large sample from the Singaporean cohort”, said GIS Research Fellow and one of the first authors of the paper, Dr Khor Chiea Chuen. “This study shows that there is good reason to continue genetic studies on Singaporeans as some of the genes governing traits in Singapore Malays and Indians are very different when compared to that of Europeans.”
He added, “To realize our aim at personalized medicine using human genetic profile as a guide, we have to conduct this kind of large-scale genetic studies in our own Singapore population to find the answers, as many European results cannot be generalized to Asians, let alone Singaporeans from different ethnic groups.”
Associate Professor Aung Tin, Deputy Director, SERI and Head Glaucoma Service, SNEC, added, “Glaucoma is a major cause of blindness and central corneal thickness is a key risk factor for the disease. By finding genes related to central corneal thickness in our population, we are close to identifying genes for glaucoma and may one day be able to predict who is at risk of this major eye disease in Singapore.”
On a similar note, Professor Adrian Hill, Director of The Jenner Institute in the UK, also commented, "This is an impressive large-scale study of one of the most important causes of blindness. The Singapore team provides strong evidence for the involvement of collagen-related genes in this disorder, opening new avenues for the understanding and better treatment of this condition."
"This was a very successful partnership between clinical research scientists with expertise in eye-related genetics at SERI and statistical geneticists with expertise in whole genome analysis at GIS” said Dr Eranga N. Vithana, Head of Ocular Genomics, Assistant Director, Basic and Experimental Sciences at the SERI.
Dr Eranga further commented, “We hope to have many such research collaborations in the future with equally successful outcomes."
Notes to the Editor:
Research publication:
The research findings described in the press release can be found in the 23 November, 2010 advance online issue of Human Molecular Genetics under the title “Collagen related genes influence glaucoma risk factor, central corneal thickness”.
Authors:
Eranga N Vithana,1,2‡* Tin Aung1,2, 3‡ Chiea Chuen Khor,4,5‡ Belinda K Cornes,1 Wan-Ting Tay,1 Xueling Sim,5 Raghavan Lavanya,1 Renyi Wu,1 Yingfeng Zheng,1 Martin L Hibberd,4 Kee Seng Chia,5,6 Mark Seielstad,7 Liang Kee Goh,8 Seang-Mei Saw,1,2,5,6 E Shyong Tai,5,6,9† Tien Y Wong 1,2,6,10†
1. Singapore Eye Research Institute, Singapore National Eye Centre, Singapore;
2. Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;
3. Singapore National Eye Centre, Singapore;
4. Infectious Diseases, Genome Institute of Singapore, A*STAR, Singapore;
5. NUS-GIS Center for Molecular Epidemiology, Singapore.
6. Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;
7. Institute for Human Genetics & Department of Laboratory Medicine, University of California San Francisco
8. Duke-NUS Graduate Medical School, Singapore
9. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;
10. Centre for Eye Research Australia, University of Melbourne, Victoria, Australia.
‡ These authors contributed equally and are joint first authors
† These authors are joint last authors
*Correspondence:
Eranga N. Vithana PhD,
Singapore Eye Research Institute,
11 Third Hospital Avenue, Singapore 168751;
Tel.:+65 6322 4542; Fax: +65 6322 4599;
E-mail: eranga.n.v@seri.com.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 Systems Biology, Stem Cell & Developmental Biology, Cancer Biology & Pharmacology, Human Genetics, Infectious Diseases, Genomic Technologies, and Computational & Mathematical Biology. 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.
About the Singapore Eye Research Institute
The need to set-up an Ophthalmic Research Institute in Singapore, designed to facilitate and promote research into visually damaging disorders, of particular significance in Singapore and the neighboring Asiatic countries was the catalyst to the establishment of the Singapore Eye Research Institute (SERI) on 15 July 1997. Today, SERI has grown from a founding team of five in 1997 to a faculty of 160 encompassing clinician scientists, scientists, Research Fellows, PhD students and supporting staff, with an annual budget of approximately S$14 million. In addition, SERI has over 155 adjunct faculties from different eye hospitals and departments in Singapore. From 1998 to 2009, SERI published 1,012 scientific papers, and has obtained 93 external peer-reviewed competitive grants worth $77.9 million. SERI’s research faculty has been awarded with 100 national and international prizes and 18 patents. A total of 65 Masters, PhD and post-doctoral students have been trained or are currently being trained. Whilst we may be young and lean, SERI is proud to rank above the global heavyweights i.e. Singapore is number one globally in terms of eye publications per capita, far ahead of the US, UK and Japan
About the Agency for Science, Technology and Research (A*STAR)
A*STAR is the lead agency for fostering world-class scientific research and talent for a vibrant knowledge-based and innovation-driven Singapore. A*STAR oversees 14 biomedical sciences, and physical sciences and engineering research institutes, and nine consortia & centres, which are located in Biopolis and Fusionopolis, as well as their immediate vicinity.
A*STAR supports Singapore's key economic clusters by providing intellectual, human and industrial capital to its partners in industry. It also supports extramural research in the universities, hospitals, research centres, and with other local and international partners.
For more information, please contact:Winnie Serah Lim (Ms)
Genome Institute of Singapore
Corporate Communications
Tel: (65) 6808 8013
Email: limcp2@gis.a-star.edu.sg
Prudence Yeo (Ms)
Corporate Communications
Genome Institute of Singapore
Corporate Communications
Tel: (65) 6808 8013
Ravi Chandran
Corporate Communications
Singapore National Eye Centre
Tel: 6322 8394
Email: ravi.chandran@snec.com.sg
