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

Clin Exp Ophthalmol. May-Jun 2012;40(4):e156-62. doi: 10.1111/j.1442-9071.2011.02595.x. Epub 2011 Jul 26.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian Continental Ancestry Group / genetics
  • Case-Control Studies
  • Female
  • Genotype
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure
  • Male
  • Polymorphism, Single Nucleotide*
  • Prospective Studies
  • Risk Factors
  • Sequence Analysis, DNA
  • Tumor Necrosis Factor-alpha / genetics*
  • Turkey


  • Tumor Necrosis Factor-alpha