Hubungan Polimorfisme M98K dan T34T dari Optineurin (OPTN) dengan Kejadian Glaukoma Sudut Terbuka Primer

Abstract

BACKGROUND: Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates genetics susceptibility plays a role in primary open-angle glaucoma (POAG). The optineurin gene (OPTN) is the second gene besides MYOC in which 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, with intraocular pressure (IOP) more than 21 mmHg or <21 mmHg on applanation tonometry, 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. Genomic DNA was extracted from the individuals and subjected to polymerase chain reaction (PCR) to amplify exon 5 (M98K of the OPTN) and exon 4 (T34T of the OPTN). The M98K status was analyzed by restriction enzyme digestion with Stu I and the T34T status by restriction enzyme digestion with Tai I. 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 patients (35/60) and 18 patients in control subjects (18160) contributing to 58,3% in POAG patients and 30% in control subjects. The T34T polymorphism of the OPTN were observed in 18 POAG patients (18/60) contributing to 30% and 25 patients (25/60) contributing to 41,6% in control subjects. The M98K polymorphism showed a significant association with POAG (P = 0.016, Kolmogorof Smirnov test). There was no association between T34T polymorphism of the OPTN and POAG (P=0,809, Kolmogorof Smirnov test). CONCLUSIONS: The M98K polymorphism of the OPTN was associated with POAG. The T34T polymorphism of the OPTN have no association with POAG susceptibility.