Vascular Endothelial Growth Factor -460 C/T BstUI Gene Polymorphism is associated with Primary Open Angle Glaucoma

BACKGROUND Hypoxia and nitric oxide (NO) play important roles in the onset and progression of glaucoma. Vascular endothelial growth factor (VEGF) is one of the main factors responsive to hypoxia and NO. In this study, we investigated the association between the BstUI C/T VEGF gene polymorphism and primary open angle glaucoma (POAG). METHODS 60 POAG patients and 78 healthy volunteers were enrolled in this study. The most frequently observed polymorphism in the VEGF gene is BstUI C/T, which was located 460 nucleotides upstream of the gene. The polymorphism was observed using polymerase chain reaction-based restriction analysis. RESULTS Significant differences were observed in the distribution of the polymorphism between control subjects and POAG patients (p = 0.003). C/C homozygotes are absent in the control group; therefore, this genotype represents a suitable genetic maker for POAG. CONCLUSIONS Hypoxia and NO may be involved in the pathway whereby the VEGF-460 polymorphism regulates POAG. Furthermore, homozygous C/C VEGF genotype is a useful maker for Chinese POAG. BACKGROUND Hypoxia and nitric oxide (NO) play important roles in the onset and progression of glaucoma. Vascular endothelial growth factor (VEGF) is one of the main factors responsive to hypoxia and NO. In this study, we investigated the association between the BstUI C/T VEGF gene polymorphism and primary open angle glaucoma (POAG). METHODS 60 POAG patients and 78 healthy volunteers were enrolled in this study. The most frequently observed polymorphism in the VEGF gene is BstUI C/T, which was located 460 nucleotides upstream of the gene. The polymorphism was observed using polymerase chain reaction-based restriction analysis. RESULTS Significant differences were observed in the distribution of the polymorphism between control subjects and POAG patients (p = 0.003). C/C homozygotes are absent in the control group; therefore, this genotype represents a suitable genetic maker for POAG. CONCLUSIONS Hypoxia and NO may be involved in the pathway whereby the VEGF-460 polymorphism regulates POAG. Furthermore, homozygous C/C VEGF genotype is a useful maker for Chinese POAG.