title: Plasma homocysteine, MTHFR gene mutation, and open-angle glaucoma.
abstract: OBJECTIVE
  Elevated plasma homocysteine has been associated with an increased risk of cardiovascular disease. The association between open-angle glaucoma and cardiovascular disease has recently stimulated interest in the role of homocysteine in the pathogenesis of glaucoma. Some studies report elevated plasma homocysteine in patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma (PXFG), but have not found this association consistently in other types of open-angle glaucoma. In this study, we have measured plasma homocysteine and C677T methylenetetrahydrofolate reductase (MTHFR) mutation, the commonest genetic cause of elevated plasma homocysteine, in patients with PXFG, primary open-angle glaucoma (POAG), and normal tension glaucoma (NTG).
  
  
  METHODS
  Prospective cross-sectional cohort study.
  
  
  METHODS
  Forty-eight patients with PXFG, 36 patients with POAG, 34 patients with NTG, and 42 controls without glaucoma.
  
  
  METHODS
  Fasting venous blood samples from each participant were analyzed for plasma homocysteine and the C677T MTHFR gene mutation. MAIN OUTCOME OF INTEREST: Mean plasma homocysteine levels, number of individuals with homocysteine above the reference range, and percentage of individuals with heterozygous or homozygous C677T MTHFR gene mutations.
  
  
  RESULTS
  Mean plasma homocysteine was significantly higher in PXFG (11.77+/-4.18 micromol/L), POAG (11.21+/-2.84 micromol/L), and NTG (11.74+/-3.79 micromol/L) compared with control (9.82+/-1.75 micromol/L). Hyperhomocysteinemia was found in 27.1% of PXFG patients, 30.6% of POAG patients, and 29.4% of NTG patients. There was no significant difference in frequency of MTHFR C677T gene mutation between groups.
  
  
  CONCLUSIONS
  Plasma homocysteine was elevated in PXFG, POAG, and NTG. Elevated plasma homocysteine seems to be associated with glaucoma in these patients.
authors.affiliation: Department of Ophthalmology, Sydney Eye Hospital, Sydney, Australia. colinc1@gmp.usyd.edu.au
authors.forename: Colin I
authors.initials: CI
authors.lastname: Clement
authors.forename: Ivan
authors.initials: I
authors.lastname: Goldberg
authors.forename: Paul R
authors.initials: PR
authors.lastname: Healey
authors.forename: Stuart L
authors.initials: SL
authors.lastname: Graham
mesh_terms: D000368:Aged; D003430:Cross-Sectional Studies; D017889:Exfoliation Syndrome / Q000097:blood / Q000235:genetics; D005260:Female; D016231:Fluorescence Polarization Immunoassay; D005902:Glaucoma, Open-Angle / Q000097:blood* / Q000235:genetics*; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000235:genetics; D007429:Intraocular Pressure; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011446:Prospective Studies
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)