Sunday, March 17, 2013
Singapore - Scientists Discover Genes That Cause Cornea Blindness
Scientists in Singapore have identified genes for central corneal thickness that may cause potentially blinding eye conditions such as glaucoma.
Scientists in Singapore have identified genes for central corneal thickness (CCT) that may cause potentially blinding eye conditions such as glaucoma.
The multi-center study, led by researchers at the Singapore Eye Research Institute (SERI) and the Agency for Science, Technology and Research (A*STAR) Genome Institute of Singapore (GIS), involved 55 hospitals and research centers around the world, and more than 20,000 individuals of European and Asian descent.
Their findings were published this month in the journal Nature Genetics.
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 percent and may determine the severity of one’s glaucoma and assist eye doctors in identifying patients with high risk for progression. CCT is also one of the leading causes of corneal transplantation worldwide.
Prior to this study, the Singapore team had identified six distinct CCT-associated loci via samples from Singaporean Chinese, Indians, and Malays, as well as Beijing Chinese.
However, none of these loci 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 six for keratoconus.
“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,” said Assistant Professor Khor Chiea Chuen, Principal Investigator, Division of Human Genetics at GIS, who was the co-lead author on this study.
The article can be found at: Lu Y et al. (2013) Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.