Glaucoma is the second cause of irreversible blindness, and the Primary Open Angle Glaucoma (POAG) subtype is the most common type of glaucoma. It has been shown that genetic mutations increase the risk of POAG used for early detection. The aim of the current study was to determine the association between genetic variations of Myocilin (MYOC) gene and susceptibility to POAG in the Iranian population. This case-control study was conducted on patients with POAG, referred to Khatam-al Anbia Eye Hospital, Mashhad, Iran. The control group was selected from healthy patients with a refractive disorder, who had referred to this hospital. After extracting the DNA from the whole blood sample, the Polymerase Chain Reaction-Single-Strand Conformation Polymorphisms (PCR-SSCP) method was used to discriminate variability in sequences in three exons of MYOC gene locus, known as GLC1A. Clinical characteristics of the subjects, comprised of visual acuity, Cup to Disc Ratio (CDR), and Intra-Ocular Pressure (IOP) were statistically compared between the wild and mutant type of the MYOC gene using independent samples t-test, Chi-square, and logistic regression test with SPSS version 15.0 software. P-values of < 0.05 were considered significant. One hundred and forty participants (75.1% males) were studied in two groups of case (n = 70) and control (n = 70). The frequency of mutant alleles in patients and healthy groups was statistically significant (40% versus 11.5%, Odd's Ratio (OR): 5.1, CI 95% for OR: 2.1 to 12.4, P-value < 0.001). Also, the detected mutation in the case group was significantly higher in exon 1 and 3 (15.7% versus 0%, P-value = 0.001, and 11.5% versus 2.8%, P-value = 0.049, respectively). Based on the result of the current study, it seems that the MYOC gene polymorphisms increased the risk of POAG in the Iranian population.
Keywords: Mutation; Myocilin gene; PCR; Primary Open Angle Glaucoma.