C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma.
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.
Jünemann
Anselm G M
AG
Department of Ophthalmology, Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen, Germany. anselm.juenemann@augen.imed.uni-erlangen.de
von Ahsen
Nico
N
Reulbach
Udo
U
Roedl
Johannes
J
Bönsch
Dominikus
D
Kornhuber
Johannes
J
Kruse
Friedrich E
FE
Bleich
Stefan
S
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
D042965:Methylenetetrahydrofolate Reductase (NADPH2)