Abstract
BackgroundGlaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations.MethodsA meta-analysis of 32 published genetic association case-control studies, which examined the relation between POAG and the R46X, R76K, Y347Y, T353I, and Q368X polymorphisms of the myocilin gene, was carried out.ResultsIn meta-analysis, significant associations were observed between POAG risk and two myocilin polymorphisms with summarized odds ratio of 4.68 (95%CI, 2.02–10.85) for Q368X and 2.17 (95% CI, 1.32–3.57) for T353I. Both Q368X and T353I were significantly associated with high-tension glaucoma, with summarized odds ratio of 4.26 (1.69, 10.73) and 2.26 (1.37–3.72). In Westerners, significant association was observed for Q368X mutation (odds ratio, 5.17; 95% CI, 2.16–12.40). However, in Asians it was for T353I (odds ratio, 2.17; 95% CI, 1.32–3.57).ConclusionsThere is strong evidence that myocilin polymorphisms are associated with POAG susceptibility, and the prevalence of myocilin mutations might be ethnicity-dependent in Caucasians for Q368X and in Asians for T353I.
Highlights
Glaucoma, which causes optic nerve damage and visual field loss, is the leading causes of irreversible blindness worldwide [1]
Several chromosomal loci have been reported as linked to primary open-angle glaucoma (POAG), such as myocilin (MYOC; GLC1A, MIM 601652), optineurin (OPTN; GLC1E, MIM 602432), and WD repeat domain 36 (WDR36; GLC1G, MIM 609669) [3]
Myocilin is an eye protein found in the trabecular extracellular matrix, within the anatomic region that controls fluid flow, it might be the source of the resistance to aqueous humor outflow that causes the elevation of intraocular pressure (IOP) in POAG [6]
Summary
Glaucoma, which causes optic nerve damage and visual field loss, is the leading causes of irreversible blindness worldwide [1]. The most common form of glaucoma is primary open-angle glaucoma (POAG), which is characterized with typical optic disc damage and visual field defects, in an eye which does not have evidence of angle closure on gonioscopy, accompanied with elevated or normal intraocular pressure (IOP). Several large studies have suggested that MYOC mutations are associated with 2% to 4% of POAG in patient populations worldwide, with more than 30 disease-associated mutations identified [5,6]. Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations
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