Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucoma

Background: Tumour necrosis factor‐alpha (TNF‐α) is an important proinflammatory cytokine driving axonal degeneration and retinal ganglion cell apoptosis in glaucoma. The aim of the study was to evaluate the association of TNF‐α ‐308 G/A and ‐238 G/A polymorphisms with primary open‐angle glaucoma (POAG). Design: A prospective, case–control study, university hospital setting. Participants: Eighty‐six POAG patients and 193 healthy unrelated controls. Methods: TNF‐α polymorphisms were screened by using direct gene sequencing. Main Outcome Measures: Frequency of TNF‐α ‐308 G/A and TNF‐α ‐238 G/A promoter polymorphisms in glaucoma and healthy subjects. Results: The frequencies of TNF‐α ‐308 GA genotype and ‘A’ allele were higher in patients with POAG (22.1% and 12.2%, respectively) in comparison with the control group (10.9% and 6%, respectively) (P = 0.046 and 0.02, respectively), with odds ratios of 2.45 (P = 0.01, 95% CI = 1.23–4.87) and 2.19 (P = 0.013, 95% CI = 1.18–4.08), respectively. Genotype distribution of the TNF‐α ‐238 variants did not yield a statistically significant difference between the two groups (P = 0.87). Conclusion: TNF‐α ‐308 G/A polymorphism seems to be associated with POAG in Turkish population. However, population‐based studies with large number of subjects and long‐term follow‐up are needed to verify the association of TNF‐α ‐308 G/A polymorphism with glaucoma susceptibility.