Methylenetetrahydrofolate reductase gene polymorphisms c.677C/T and c.1298A/C are not associated with open angle glaucoma.
OBJECTIVE
To assess whether or not the c.677C/T and c.1298A/C genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene are associated with open angle glaucoma (OAG).


METHODS
Genomic DNA was examined in a cohort of 131 Japanese patients with normal tension glaucoma (NTG), 133 patients with primary open angle glaucoma (POAG), and 106 control subjects. The mean age at the time of blood sampling was 62.8+/-13.3 years (mean+/-SD) in the patients with NTG, 61.8+/-15.4 years in the patients with POAG, and 65.0+/-10.5 years in the control subjects. MTHFR c.677C/T and c.1298A/C genotype and allele frequencies were determined using pyrosequencing analysis, and the findings were compared between the OAG patients and control subjects. The frequencies of compound MTHFR c.677C/T and c.1298A/C genotypes were also compared between OAG patients and control subjects.


RESULTS
No significant differences were observed (p>0.05, chi2 test or Fisher's exact test) regarding the MTHFR c.677C/T genotype (TT: 14.5%, CT: 44.3%, CC: 41.2% for patients with NTG; TT: 20.3%, CT: 41.4%, CC: 38.3% for patients with POAG; TT: 17.9%, CT: 36.8%, CC: 45.3% for control subjects) and c.1298A/C (CC: 0%, AC: 38.9%, AA: 61.1% for patients with NTG; CC: 2.3%, AC: 32.3%, AA: 65.4% for patients with POAG; CC: 0.9%, AC: 41.5%, AA: 57.6% for control subjects). There were no allele frequencies between the NTG or POAG patients and the control subjects. In addition, no significant differences (p>0.05, chi2 test) were found in the frequencies of the compound MTHFR c.677C/T and c.1298A/C genotypes between the NTG or POAG patients and the control subjects.


CONCLUSIONS
The MTHFR c.677C/T and c.1298A/C polymorphisms were not found to be associated with NTG and POAG. Further studies in the different ethnic populations should be performed to elucidate the relationship between MTHFR and OAG.
Mabuchi
Fumihiko
F
Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Shimokato, Yamanashi, Japan. fmabuchi@yamanashi.ac.jp
Tang
Sa
S
Kashiwagi
Kenji
K
Yamagata
Zentaro
Z
Iijima
Hiroyuki
H
Tsukahara
Shigeo
S
D000225:Adenine; D000368:Aged; D016022:Case-Control Studies; D003596:Cytosine; D005787:Gene Frequency; D005838:Genotype; D005901:Glaucoma / Q000235:genetics / Q000503:physiopathology; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D013941:Thymine
D003596:Cytosine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000225:Adenine; D013941:Thymine