2012/09/10 by Amy K. Kiefer, Kiefer, Amy K., Joyce Y. Tung +11
Medicine · #Corneal surgery and disorders #Ophthalmology and Visual Impairment Studies #Glaucoma and retinal disorders
paper · pdf · doi:10.48550/arxiv.1209.2089
Myopia, or nearsightedness, is the most common eye disorder, resulting\nprimarily from excess elongation of the eye. The etiology of myopia, although\nknown to be complex, is poorly understood. Here we report the largest ever\ngenome-wide association study (43,360 participants) on myopia in Europeans. We\nperformed a survival analysis on age of myopia onset and identified 19\nsignificant associations (p < 5e-8), two of which are replications of earlier\nassociations with refractive error. These 19 associations in total explain 2.7%\nof the variance in myopia age of onset, and point towards a number of different\nmechanisms behind the development of myopia. One association is in the gene\nPRSS56, which has previously been linked to abnormally small eyes; one is in a\ngene that forms part of the extracellular matrix (LAMA2); two are in or near\ngenes involved in the regeneration of 11-cis-retinal (RGR and RDH5); two are\nnear genes known to be involved in the growth and guidance of retinal ganglion\ncells (ZIC2, SFRP1); and five are in or near genes involved in neuronal\nsignaling or development. These novel findings point towards multiple genetic\nfactors involved in the development of myopia and suggest that complex\ninteractions between extracellular matrix remodeling, neuronal development, and\nvisual signals from the retina may underlie the development of myopia in\nhumans.\n