Featured Research

from universities, journals, and other organizations

Scientists discover genes responsible for cornea blindness

Date:
January 16, 2013
Source:
Agency for Science, Technology and Research (A*STAR), Singapore
Summary:
Scientists 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.

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.

Related Articles


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 science journal, Nature Genetics (6 January, 2013).

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.

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.

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.

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."

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."

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."

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."

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." 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."


Story Source:

The above story is based on materials provided by Agency for Science, Technology and Research (A*STAR), Singapore. Note: Materials may be edited for content and length.


Journal Reference:

  1. Yi Lu, Veronique Vitart, Kathryn P Burdon, Chiea Chuen Khor, Yelena Bykhovskaya, Alireza Mirshahi, Alex W Hewitt, Demelza Koehn, Pirro G Hysi, Wishal D Ramdas, Tanja Zeller, Eranga N Vithana, Belinda K Cornes, Wan-Ting Tay, E Shyong Tai, Ching-Yu Cheng, Jianjun Liu, Jia-Nee Foo, Seang Mei Saw, Gudmar Thorleifsson, Kari Stefansson, David P Dimasi, Richard A Mills, Jenny Mountain, Wei Ang, Ren้ Hoehn, Virginie J M Verhoeven, Franz Grus, Roger Wolfs, Rapha๋le Castagne, Karl J Lackner, Henri๋t Springelkamp, Jian Yang, Fridbert Jonasson, Dexter Y L Leung, Li J Chen, Clement C Y Tham, Igor Rudan, Zoran Vatavuk, Caroline Hayward, Jane Gibson, Angela J Cree, Alex MacLeod, Sarah Ennis, Ozren Polasek, Harry Campbell, James F Wilson, Ananth C Viswanathan, Brian Fleck, Xiaohui Li, David Siscovick, Kent D Taylor, Jerome I Rotter, Seyhan Yazar, Megan Ulmer, Jun Li, Brian L Yaspan, Ayse B Ozel, Julia E Richards, Sayoko E Moroi, Jonathan L Haines, Jae H Kang, Louis R Pasquale, R Rand Allingham, Allison Ashley-Koch, Paul Mitchell, Jie Jin Wang, Alan F Wright, Craig Pennell, Timothy D Spector, Terri L Young, Caroline C W Klaver, Nicholas G Martin, Grant W Montgomery, Michael G Anderson, Tin Aung, Colin E Willoughby, Janey L Wiggs, Chi P Pang, Unnur Thorsteinsdottir, Andrew J Lotery, Christopher J Hammond, Cornelia M van Duijn, Michael A Hauser, Yaron S Rabinowitz, Norbert Pfeiffer, David A Mackey, Jamie E Craig, Stuart Macgregor, Tien Y Wong. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nature Genetics, 2013; DOI: 10.1038/ng.2506

Cite This Page:

Agency for Science, Technology and Research (A*STAR), Singapore. "Scientists discover genes responsible for cornea blindness." ScienceDaily. ScienceDaily, 16 January 2013. <www.sciencedaily.com/releases/2013/01/130116103648.htm>.
Agency for Science, Technology and Research (A*STAR), Singapore. (2013, January 16). Scientists discover genes responsible for cornea blindness. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2013/01/130116103648.htm
Agency for Science, Technology and Research (A*STAR), Singapore. "Scientists discover genes responsible for cornea blindness." ScienceDaily. www.sciencedaily.com/releases/2013/01/130116103648.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) — It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) — More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) — In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Double-Amputee Becomes First To Move Two Prosthetic Arms With His Mind

Buzz60 (Dec. 19, 2014) — A double-amputee makes history by becoming the first person to wear and operate two prosthetic arms using only his mind. Jen Markham has the story. Video provided by Buzz60
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins