C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma

Am J Ophthalmol. 2005 Apr;139(4):721-3. doi: 10.1016/j.ajo.2004.09.081.

Abstract

Purpose: To estimate the prevalence of C677T single nucleotide polymorphism in the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in primary open-angle glaucoma (POAG) and pseudoexfoliation open-angle glaucoma (PEXG).

Design: Case-control study

Methods: MTHFR was assessed in 147 patients (76 POAG, 71 PEXG) and 71 control subjects with cataract. Associations of genotypes were assessed by Armitage's trend test and the corresponding odds ratio (OR) for allele positivity with 95% confidence interval (CI).

Results: We observed significant evidence of a higher prevalence of C677T in POAG (9% homozygote, 49% heterozygote, 42% wildtype, P = .01, OR = 2.38, 95% CI 1.23-4.62), but not in PEXG (9% homozygote, 41% heterozygote, 50% wildtype, P = .09, OR = 1.78, 95% CI 0.91-3.50) compared with the controls (3% homozygote, 34% heterozygote, 63% wildtype).

Conclusions: The MTHFR C677T variant leading to moderate hyperhomocysteinemia may play a role in the pathogenesis of POAG acting as a genetic risk factor.

MeSH terms

  • Aged
  • Case-Control Studies
  • Cataract / enzymology
  • Cataract / genetics
  • Exfoliation Syndrome / complications
  • Exfoliation Syndrome / enzymology
  • Exfoliation Syndrome / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Glaucoma, Open-Angle / enzymology
  • Glaucoma, Open-Angle / etiology
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Intraocular Pressure
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Odds Ratio
  • Polymorphism, Single Nucleotide / genetics*
  • Prevalence
  • Prospective Studies
  • Risk Factors

Substances

  • Methylenetetrahydrofolate Reductase (NADPH2)