Evaluation of TGFB1 -509C>T polymorphism in primary open-angle glaucoma and primary angle-closure glaucoma in Turkish population.

Abstract

Aim: This study aimed to investigate the association of the TGFB1 -509C>T polymorphism with the development of Primary Open-Angle Glaucoma (POAG) and Primary Angle-Closure Glaucoma (PACG) in the Turkish population.

Methods: This study included patients from the Ophthalmology Departments of İzmir Katip Çelebi University and Ege University, divided into three groups: POAG (n = 115), PACG (n = 53), and control (n = 96). Detailed eye examinations and peripheral blood sample collections for DNA isolation were performed. The TGFB1 -509C>T polymorphism was evaluated via PCR amplification and sequencing analysis on the Illumina Miniseq platform.

Results: No significant differences were found among the groups regarding demographic characteristics. The POAG and PACG groups had significantly different intraocular pressure and cup/disc ratio compared to the control group. However, no significant association was found between the TGFB1 -509C>T polymorphism and the development of POAG or PACG in terms of allele frequency, genotype, and dominant/recessive model analysis.

Conclusion: In this study involving a well-defined Turkish sample, the TGFB1 -509C>T polymorphism was not associated with the development of POAG or PACG. However, given the limited sample size, especially in the PACG subgroup, these findings should be interpreted with caution. Further large-scale studies in broader Turkish populations are warranted to validate these results.