title: Methylenetetrahydrofolate reductase 677 C-T and homocysteine levels in Turkish patients with pseudoexfoliation.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  In Turkish patients with PEX, the authors could not find any association between Hcy levels, MTHFR 677 C-T polymorphism, and the disease.
authors.affiliation: Department of Ophthalmology, School of Medicine, Ankara University, Ankara, Turkey.
authors.forename: M Erol
authors.initials: ME
authors.lastname: Turaçli
authors.forename: Oya
authors.initials: O
authors.lastname: Tekeli
authors.forename: Filiz
authors.initials: F
authors.lastname: Ozdemir
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D017889:Exfoliation Syndrome / Q000097:blood* / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005838:Genotype; D005901:Glaucoma / Q000097:blood / Q000235:genetics; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics; D007429:Intraocular Pressure; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014421:Turkey / Q000453:epidemiology
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)