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Genetic variants associated with the onset and progression of primary open-angle glaucoma

American Journal of Ophthalmology Mar 27, 2020

Mabuchi F, Mabuchi N, Sakurada Y, et al. - Researchers conducted this case-control genetic association study to examine the genetic variants correlated with the onset and progression of primary open-angle glaucoma (POAG). Japanese POAG patients (n = 505) and control individuals (n = 246) were genotyped for 22 genetic variants predisposing to POAG which can be classified into those related to intraocular pressure (IOP) elevation (IOP-related genetic variants) and optic nerve vulnerability independent of IOP (non-IOP-related genetic variants). The findings suggest that genetic variants that are non-IOP-related (optic nerve vulnerability) rather than IOP-related (IOP elevation) may play a significant role in the onset of POAG (family history of glaucoma) and that genetic variants linked to IOP, rather than non-IOP-related, can play a significant role in their progression (age at the diagnosis of glaucoma).

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