[TNF-alfa (-857C/T) polymorphism in open angle glaucoma in Romania -- results of a pilot study]

Abstract

Primary open angle glaucoma is a progressive optic neuropathy with multiple causative factors including genetic immune disregulation. TNF-alfa has pro-apoptotic effects on the retinal ganglion cells, thus being directly involved in the neurodegeneration of the optic nerve head. Our purpose was to investigate the influence on susceptibility and/or clinical and characteristics of TNF-alfa promoter polymorphism -857 C/T in Romanian patients diagnosed with POAG.

Methods: We assessed 159 Romanian subjects, 61 diagnosed with glaucoma (F/M 39/22) and 98 healthy unrelated matched controls-HC for the polymorphism -857 C/T, genotyped by Real Time PCR (Taqman SNP Genotyping Assay C_2215707_10, Applied Biosystems, USA). The diagnosis and the staging of the disease in the POAG group were assessed using the current guidelines. Association tests for the SNP were performed using SPSS 11.2 (Fisher test) and p values < or = 0.05 were considered significant.

Results: The Hardy-Weinberg equilibrium assessed using Chi-square test was respected in both studied groups- POAG and HC (p = 0.000009 and respectively p = 0.04771). There was no association found between the frequencies of alleles between studied groups (CC/CT/TT= 0.81/0.09/0.08 respectively 0.70/0.23/0.06).

Conclusion: TNF-alfa promoter polymorphism -857 C/T doesn't seem to influence the susceptibility to POAG and the results should be confirmed on larger cohorts.