OPA1 Gene Polymorphism in Korean Normal-Tension Glaucoma Patients

Abstract

Abstract: : Purpose: Single nucleotide polymorphism on intervening sequence (IVS) 8 of the OPA1 gene (IVS8 + 4 C/T) was found to be associated with normal-tension glaucoma (NTG) in Caucasian (Aung et al., 2002). We investigated whether that polymorphism exists in Korean NTG patients. Methods: Forty-two NTG patients and 42 healthy subjects without systemic diseases including diabetes and hypertension were enrolled. DNA from peripheral blood lymphocytes was extracted and the genotype of polymorphism (IVS8 + 4 C/T) in the OPA1 gene was determined using PCR followed by restriction enzyme (HpyCH4 IV) digestion. The frequencies of the polymorphic genotypes in patients with NTG and healthy subjects were compared using the Fisher’s exact test. Results: The frequencies of the genotypes of the OPA1 gene in NTG patients (n = 42) were determined to be as follows; the CT genotype was found in 3 patients (7.1%) and the CC genotype in 39 (92.9%). In healthy subjects (n = 42), the CC genotype was found in 42 (100%). The frequency of the CT genotype was not different between NTG patients and healthy subjects (p = 0.12 by Fisher’s exact test). Conclusions: These results indicate that polymorphism in the OPA1 gene (IVS8 + 4 C/T) is not associated with Korean NTG patients. However the possibility of other mutation or sequence changes in the OPA1 gene cannot be excluded in Korean NTG patients.

Keywords: genetics • mitochondria