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-beta 2) in the pathogenicity of POAG and. to evaluate the effect of the C/A SNP of the TGF-beta 2 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-beta 2 was estimated by ELISA.and the C/A SNP of the TGF-beta 2 gene (rs991967) was determined by RFLP-PCR. Results The males are more susceptible to having POAG (p = 0.0201). The serum.TGF-beta 2 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-beta 2 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-beta 2 (P < 0.001) than the control. Conclusions The males were more susceptible to acquiring POAG than females,.. especially the elderly. The TGF-beta 2 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.