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Unlocking the genetic origin of myopia

In collaboration with the Consortium for Refractive Error and Myopia (CREAM), PolyU researchers are taking an active role in a global study which has unlocked the genetic origin of myopia. In this issue, Dr Jeremy Guggenheim, Associate Professor at the School of Optometry, and Prof. Yip Shea-ping, Associate Head (Research) of the Department of Health Technology and Informatics, both members of PolyU’s Centre for Myopia Research, will share the study findings which have been published in Nature Genetics.

What is the purpose of the study?

The purpose is to identify genetic factors that make certain individuals more susceptible to myopia than others. Eventually, we hope that by understanding the genetics of myopia, we will develop new treatments to slow its progression, and to help in the early identification of at-risk children, so that preventive treatment can be initiated promptly.

What is the scope of the study?

This was the largest ever international study, involving the concerted efforts of researchers from 64 universities and research institutes in 13 different countries. We carried out a survey of genetic variants from across the human genome, in a total of 45,758 subjects, including 37,382 individuals of European ancestry and 8,376 from Asian countries.

What makes this study different from the others?

Instead of recruiting subjects or families with high degrees of myopia, our analyses examined data of unselected subjects from health studies, which would be more representative of people in the general population.

What were the results?

We found 16 new gene loci for refractive error in people of European descent, of which eight loci were confirmed as being shared with people of Chinese, Indian or Malay descent. We also confirmed a further eight associated loci, which are also likely to be shared across Asians and Caucasians.

Many of the newly-identified candidate genes provide insight into the potential mechanisms linked to eye growth and myopia. For instance, some of the genes are implicated in the growth of the sclera, the white outer layer of an eyeball, while other genes may be involved in determining the strength of chemical signals generated by the retina when viewing images, which may influence the onset and progression of myopia.

According to this study, people with all the genetic risk factors have a tenfold-increased risk of developing myopia compared to long-sightedness (hyperopia). Details>>