Objective: To screen the mutation loci of optic neuropathy induced response protein (OPTN) gene in Chinese with primary open-angle glaucoma (POAG) and to investigate the association between OPTN genotype and phenotype of POAG.
Methods: Specimens of peripheral blood were collected from Chinese 118 patients with POAG and 150 sex- and aged-matched subjects without POAG. Polymerase chain reaction (PCR) was used to analyze the coding sequence of OPTN gene consisting of thirteen exons. The abnormal strands by SSCP were evaluated by bi-directional sequencing.
Results: Eleven sequence changes were identified, 6 of which had been reported before (T34T, T49T, M98K, IVS6-SC-->T, IVS6-10G-->A, and R545Q), and 5 of which were novel (IVS6-9C-->T, IVS6-14G-->A, IVS7 + 36G-->A, IVS8-51T-->C, and K435R) Only K435R was found in patient with POAG, whereas IVS6-9C-->T and IVS6-14G-->A were present in control subjects. IVS6-5C-->T and IVS6-10G-->A showed significant association with POAG. The patients with IVS6-5C-->T sequence abnormality were aged 23 to 73 with an average intraocular pressure of 23.14 mm Hg (1 mm Hg =0. 133 kPa) and a mean defect of visual field 0.2 to 28. 2dB. The patients with IVS6-10C-->T sequence abnormality were aged 20 to 74 with an average intraocular pressure of 20.19 mm Hg and a mean defect of visual field from 0.9 to 26. 5dB.
Conclusion: The single nucleotide polymorphism (SNP) of OPTN gene may contribute to the pathogenesis of glaucoma in Chinese.