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.