Optineurin Gene Polymorpshism and Its Association With Glaucoma Onset

Glaucoma is a polygenic trait, and an irreversible visual impairment disorder caused by elevation of IOP (Intraocular Pressure), apoptotic death of the retinal Ganglion cells, excavation of optic nerve and ultimately vision loss if remain untreated. It is inherited in next generation in carrier families. In this study we aimed to identify the genetic polymorphism in OPTN gene and its association with glaucoma. Three SNPs (rs11258194, rs75654767, rs2234968) of OPTN gene were evaluated with their restriction enzymes StuI, AciI and HpyChIV respectively for their genetic association. For this purpose, blood samples were carried out from 100 patients and 100 controls with their clinical characteristics. Genotyping was done by DNA sequencing and PCR-RFLP. Overall the genotypic frequencies of two SNPs rs11258194 “TA” and rs75654767 “AA” were (0.21) and (0.42) in patients respectively while these genotypes were absent in controls. So rs75654767 (AA) and rs11258194 were significantly associated (p < 0.05) with Glaucoma in our population. No association was detected with rs2234968. Haplotype analysis indicated that TGG, AAG, and TAG were strongly associated (p < 0.05) with the disease onset while the haplotype AGG was significant in controls and has a protective role against disease development. Moreover, no linkage disequilibrium was seen between the rs2234968 and rs2234968 except the rs11258194 (D / = 0.75). In conclusion, the polymorphism in OPTN was significantly associated with the glaucoma. A large scale genetic screening of families is required for the evaluation of their role in disease development and early diagnosis.