title: Methylenetetrahydrofolatereductase (MTHFR) 677C>T polymorphism and open angle glaucoma.
abstract: OBJECTIVE
  Increased plasma homocysteine levels have been found in patients with primary open angle glaucoma (POAG) and glaucoma secondary to pseudoexfoliation syndrome (PEXG). A common polymorphism of the methylenetetrahydrofolatereductase (MTHFR 677C>T) leads to moderately elevated plasma homocysteine levels particularly under conditions of impaired folate status. It was the aim of this study to investigate a hypothesized association between this polymorphism and the presence of either POAG or PEXG.
  
  
  METHODS
  The present retrospective case-control study included a total of 553 participants comprising 204 patients with POAG, 138 patients with PEXG, and 211 control subjects. Genotyping for the MTHFR 677C>T polymorphism was performed by polymerase chain reaction (PCR).
  
  
  RESULTS
  No significant difference in the genotype distribution of the MTHFR 677C>T polymorphism was found between control subjects and patients with POAG or PEXG. The prevalence of the MTHFR 677TT genotype was 6.9% in patients with POAG, 11.6% in patients with PEXG, and 9.5% in control subjects.
  
  
  CONCLUSIONS
  The present data suggest that the MTHFR 677C>T polymorphism itself is not a major genetic risk factor for POAG and PEXG in a central European population.
authors.affiliation: University Clinic for Ophthalmology, Medical University of Graz, Graz, Austria. mossboeckg@gmx.net
authors.forename: Georg
authors.initials: G
authors.lastname: Mossbock
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.forename: Christoph
authors.initials: C
authors.lastname: Faschinger
authors.forename: Iris
authors.initials: I
authors.lastname: Steinbrugger
authors.forename: Werner
authors.initials: W
authors.lastname: Temmel
authors.forename: Otto
authors.initials: O
authors.lastname: Schmut
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Clemens
authors.initials: C
authors.lastname: Hufnagel
authors.forename: Olaf
authors.initials: O
authors.lastname: Stanger
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D003596:Cytosine; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D013941:Thymine
chemical_list: D003596:Cytosine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013941:Thymine