
An international study found 24 new genes that cause refractive errors and myopia. The study found the genetic causes of myopia and verified the existence of two previously found genes. The groundbreaking results were recently published in the prestigious Nature Genetics journal.
The new genes include those which function in brain and eye tissue signalling, the structure of the eye, and eye development. The genes lead to a high risk of myopia: carriers of the high-risk genes had a tenfold increased risk. An important finding was also that the genes of Europeans and Asians were not significantly different.
It was already known that environmental factors, such as reading, lack of outdoor exposure, and a higher level of education can increase the risk of myopia.
“An unfavourable combination of genetic predisposition and environmental factors appears to be particularly risky for the development of myopia,” says Professor Terho Lehtimäki from the University of Tampere.”
Lehtimäki’s research group is involved in the Research Consortium for Refraction and Myopia (CREAM). Researchers from Europe, Asia, Australia and the United States collaborated in the analysis of data of over 45,000 people from 32 different studies.
The consortium next plans to study the effect of environmental factors on the genes that were now discovered.
Myopia is a refractive error causing blindness and blurred vision for which there is no cure yet. Although the refractive error can be corrected by glasses, contact lenses or surgery, the eye remains longer, the retina is thinner, and this may lead to retinal detachment, glaucoma or macular degeneration, especially with higher degrees of myopia.
30% of Western populations and up to 80% of Asians suffer from myopia.
Information on the research
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet. 2013 Feb 10. doi: 10.1038/ng.2554
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