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Genes associated with high myopia in Asians found

04 September 2012

Prof Saw (right), lead investigator of the myopia research and Ms Qiao Fan, first author and PhD student at Saw Swee Hock School of Public Health
Singapore researchers have discovered the genes associated with high myopia in an inaugural genome-wide association study of Asians. The exciting results were published in a recent paper in PLoS Genetics.

On the implications of the study, lead author Prof Saw Seang Mei of the Saw Swee Hock School of Public Health at NUS said: "A genetic variant on chromosome 1 for high myopia has been identified in a large genetic study of more than 5,000 Singapore adults and children. Our findings were further confirmed in two different Japanese populations. The genes were expressed in mouse and human ocular tissues."

Prof Saw's research team has documented that Singapore has one of the highest prevalence rates in the world for myopia. When children have short-sightedness at a younger age, they have a greater likelihood of developing severe myopia later on, which can lead to potential complications resulting in blindness. High myopia is defined as short-sightedness of greater than 600 degrees.

With this finding, a test can be developed to "facilitate the selection of children with genetic dispositions for high myopia who may benefit from interventions to prevent the rapid progression of myopia to high myopia", noted Prof Saw, who is also Vice-Dean of Research at the NUS Yong Loo Lin School of Medicine. The investigators are aiming for a pilot prediction test which will be ready in two to three years.

Prof Saw added that possible interventions to slow the progression of myopia include low-dose atropine eye drops and multi-zone spectacles or contact lenses.

The research team hopes that by the end of 2013, they will have a blueprint of the main genetic variants associated with myopia. This will be following the addition of data from the Consortium of Refractive Error and Myopia (CREAM), an international consortium of 40 studies.

The study was a collaboration between the Saw Swee Hock School of Public Health, NUS Department of Opthalmology, National University Health System and the Singapore Eye Research Institute. Other participating parties include the Genome Institute of Singapore and Duke-NUS Graduate Medical School. Among the international collaborators are Duke University and University of California San Francisco, USA; Kyoto University, Tokai University and Yokohama City University School of Medicine, Japan; and University of Melbourne, Australia.