title: C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma.
abstract: OBJECTIVE
  To estimate the prevalence of C677T single nucleotide polymorphism in the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in primary open-angle glaucoma (POAG) and pseudoexfoliation open-angle glaucoma (PEXG).
  
  
  METHODS
  Case-control study
  
  
  METHODS
  MTHFR was assessed in 147 patients (76 POAG, 71 PEXG) and 71 control subjects with cataract. Associations of genotypes were assessed by Armitage's trend test and the corresponding odds ratio (OR) for allele positivity with 95% confidence interval (CI).
  
  
  RESULTS
  We observed significant evidence of a higher prevalence of C677T in POAG (9% homozygote, 49% heterozygote, 42% wildtype, P = .01, OR = 2.38, 95% CI 1.23-4.62), but not in PEXG (9% homozygote, 41% heterozygote, 50% wildtype, P = .09, OR = 1.78, 95% CI 0.91-3.50) compared with the controls (3% homozygote, 34% heterozygote, 63% wildtype).
  
  
  CONCLUSIONS
  The MTHFR C677T variant leading to moderate hyperhomocysteinemia may play a role in the pathogenesis of POAG acting as a genetic risk factor.
authors.affiliation: Department of Ophthalmology, Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen, Germany. anselm.juenemann@augen.imed.uni-erlangen.de
authors.forename: Anselm G M
authors.initials: AG
authors.lastname: Jünemann
authors.forename: Nico
authors.initials: N
authors.lastname: von Ahsen
authors.forename: Udo
authors.initials: U
authors.lastname: Reulbach
authors.forename: Johannes
authors.initials: J
authors.lastname: Roedl
authors.forename: Dominikus
authors.initials: D
authors.lastname: Bönsch
authors.forename: Johannes
authors.initials: J
authors.lastname: Kornhuber
authors.forename: Friedrich E
authors.initials: FE
authors.lastname: Kruse
authors.forename: Stefan
authors.initials: S
authors.lastname: Bleich
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D002386:Cataract / Q000201:enzymology / Q000235:genetics; D017889:Exfoliation Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)