Evaluation of The Association Between M98K and T34T Polymorphisms of the Optineurin (OPTN) Gene and Primary Open Angle Glaucoma in Indonesia
Journal Title: Journal of Medical Science And clinical Research - Year 2013, Vol 1, Issue 3
Abstract
PURPOSE: Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates genetic susceptibility plays a role in primary open-angle glaucoma (POAG). The optineurin gene (OPTN) mutations have been identified to be associated with POAG. This study to analyze the association of M98K and T34T of the OPTN with POAG. METHODS: Primary open angle glaucoma patients were characterized by open angles on gonioscopy, intraocular pressure (IOP) > 21 mmHg or <21 mmHg and typical glaucomatous disc changes with corresponding visual field defects in the absence of any secondary cause. Sixty patients with POAG and 60 unrelated control subjects were identified for polymorphisms of M98K and T34T of the OPTN. Genotyping of M98K and T34T were performed by PCRRFLP. RESULTS: Polymorphism of M98K and T34T of the OPTN were identified in both POAG and control subjects. The M98K polymorphism of OPTN were observed in 35 POAG (35/60) and 18 in control subjects (18/60). The M98K polymorphism showed a significant association with POAG (P = 0.021, Chisquare test). The T34T polymorphism of the OPTN were observed in 18 POAG patients (18/60), and have no association with POAG (P = 0.183, Chi-square test). CONCLUSIONS: There is evidence of a positive association only between M98K polymorphism of the OPTN and POAG, T34T polymorphism of the OPTN gene have no association with POAG susceptibility in Indonesian People.
Authors and Affiliations
Rodiah Rahmawaty Lubis
Keywords
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