Transforming growth factor β-1 -509C>T polymorphism in Indian patients with primary open angle glaucoma

Background: Extracellular matrix (ECM) accumulation in the trabecular meshwork tissues of glaucoma patients has been demonstrated as one of the factors that contribute to glaucoma pathology. Transforming growth factor-β (TGFβ) has its fundamental function in regulating the ECM molecules and has been implicated in glaucoma pathology. In this study, the association of the TGFB1 -509C>T single nucleotide polymorphism (SNP) with primary open angle glaucoma (POAG) in patients from India is analyzed. Methods: One-hundred and six POAG patients and 104 controls were selected after comprehensive ophthalmic examinations. TGFB1 alleles were typed by restriction enzyme digestion with the isoschizomer Eco81I of Bsu36I, whose site is altered by the -509C>T SNP, and statistically analyzed for any significant association. Two clinical variables, vertical cup disc ratio (CDR) and intraocular pressure (IOP), were compared at diagnosis by the Mann-Whitney test for any significant association with the polymorphism. Results: Statistical analysis between the two groups did not suggest any significant difference in the distribution of allele and genotype frequencies. The Mann-Whitney test did not show any significant p value for the clinical parameters IOP (p = 0.29 and 0.59) and CDR (p = 0.26 and 0.17). Conclusions: The current study shows that the TGFB1 -509C>T polymorphism might not be associated with POAG. Analysis of the other polymorphisms in the regulatory region of the TGFB1 gene could give a better understanding of the role of TGFβ in POAG pathogenesis.