The C/A functional polymorphism of TGF-β2 gene (rs991967) in primary open angle glaucoma patients

Background: Primary Open-angle Glaucoma (POAG) is a functional disease that.leads to blindness globally. The aims of this study are estimation the importance.of transforming growth factor-beta 2 (TGF-β2) in the pathogenicity of POAG and.to evaluate the effect of the C/A SNP of the TGF-β2 gene (rs991967) on POAG development.

Methods: Blood samples and some topographic data were collected from POAG.patients and the controls. The serum level of TGF-β2 was estimated by ELISA.and the C/A SNP of the TGF-β2 gene (rs991967) was determined by RFLP-PCR.

Results: The males are more susceptible to having POAG (p = 0.0201). The serum.TGF-β2 is higher in POAG patients as compared with the control (p < 0.0001). The.AA (reference) genotype was the most common in the patients (61.7%). While..CC genotype (45.0%, OR: 0.136, 95%CI: 0.05-0.36, P < 0.0001) and AC..genotypes (41.7%, OR: 0.051, 95%CI: 0.01-0.16, P < 0.001) were most common..in the control group. Moreover, the TGF-β2 C allele is protective (OR: 0.25,..95%, CI: 0.15-0.44, P < 0.0001). Patients with AA, CC, and AC genotypes have..significantly high levels of TGF-β2 (P < 0.001) than the control.

Conclusions: The males were more susceptible to acquiring POAG than females,.. especially the elderly. The TGF-β2 plays important role in the pathogenesis of POAG. The CC and AC genotypes are common in the control and the C allele is a protective factor.