Methylenetetrahydrofolate reductase 677 C-T and homocysteine levels in Turkish patients with pseudoexfoliation

Clin Exp Ophthalmol. 2005 Oct;33(5):505-8. doi: 10.1111/j.1442-9071.2005.01070.x.


Purpose: The 677 C-T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with hyperhomocysteinaemia. This study aimed to investigate the frequency of MTHFR 677 C-T polymorphism and homocysteine (Hcy) levels in Turkish patients with pseudoexfoliation (PEX).

Methods: This prospective study consisted of 60 patients with PEX glaucoma, 16 with PEX syndrome and 34 controls. All patients and control subjects were of Turkish origin. All participants underwent a complete ophthalmic examination. Plasma Hcy levels were measured using fluorescence polarization immunoassay (Abbott Diagnostics). Hyperhomocysteinaemia was defined as a plasma Hcy level above 14 micromol/L. MTHFR 677 C-T was genotyped by real-time polymerase chain reaction (Roche Diagnostics).

Results: There was no statistically significant difference in patient and control groups for the age and sex (P > 0.05). The mean plasma Hcy levels were 15.76, 14.98 and 17.43 micromol/L in patients with PEX glaucoma, with PEX syndrome and controls, respectively. No significant differences between Hcy levels among the three groups (P > 0.05) were found. MTHFR 677 polymorphism did not show significant differences between the total patients with PEX (PEX glaucoma + PEX syndrome) and control subjects (CC: 51.3%n = 39, CT: 40.8%n = 31, TT: 7.9%n = 6 for patients with PEX; CC: 52.9%n = 18, CT: 35.3:%n = 12, TT: 11.8%n = 4 for controls) (P > 0.05). Frequency of T allele was 28.28% and 29.41% for the total patients with PEX and controls, respectively.

Conclusion: In Turkish patients with PEX, the authors could not find any association between Hcy levels, MTHFR 677 C-T polymorphism, and the disease.

MeSH terms

  • Aged
  • DNA Mutational Analysis
  • Exfoliation Syndrome / blood*
  • Exfoliation Syndrome / ethnology
  • Exfoliation Syndrome / genetics*
  • Female
  • Genotype
  • Glaucoma / blood
  • Glaucoma / genetics
  • Homocysteine / blood*
  • Humans
  • Hyperhomocysteinemia / genetics
  • Intraocular Pressure
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Polymorphism, Single Nucleotide*
  • Prospective Studies
  • Reverse Transcriptase Polymerase Chain Reaction
  • Turkey / epidemiology


  • Homocysteine
  • Methylenetetrahydrofolate Reductase (NADPH2)