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."


The research findings can be found in the 3 December, 2010 advance online issue of Human Molecular Genetics under the title “Collagen related genes influence glaucoma risk factor, central corneal thickness”.
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†

Contact: Winnie Serah Lim (Ms), Genome Institute of Singapore, Corporate Communications, Tel: (65) 6808 8013, Email: limcp2@gis. a-star. edu. sg

Source: Agency for Science, Technology and Research (A*STAR)

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