Methylenetetrahydrofolate reductase gene polymorphisms c.677C/Tand c.1298A/C are not associated with open angle glaucoma

[摘要] Purpose: To assess whether or not the c.677C/T and c.1298A/C geneticpolymorphisms of the methylenetetrahydrofolate reductase (MTHFR)gene are associated with open angle glaucoma (OAG).Methods: Genomic DNA was examined in a cohort of 131 Japanesepatients with normal tension glaucoma (NTG), 133 patients with primaryopen angle glaucoma (POAG), and 106 control subjects. The mean age atthe time of blood sampling was 62.8±13.3 years (mean±SD) in thepatients with NTG, 61.8±15.4 years in the patients with POAG, and65.0±10.5 years in the control subjects. MTHFR c.677C/T andc.1298A/C genotype and allele frequencies were determined usingpyrosequencing analysis, and the findings were compared between the OAGpatients and control subjects. The frequencies of compound MTHFRc.677C/T and c.1298A/C genotypes were also compared between OAG patientsand control subjects.Results: No significant differences were observed (p>0.05,χ2 test or Fisher's exact test) regarding the MTHFRc.677C/T genotype (TT: 14.5%, CT: 44.3%, CC: 41.2% for patients withNTG; 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 controlsubjects). There were no allele frequencies between the NTG or POAGpatients and the control subjects. In addition, no significantdifferences (p>0.05, χ2 test) were found in the frequenciesof the compound MTHFR c.677C/T and c.1298A/C genotypes between theNTG or POAG patients and the control subjects.Conclusions: The MTHFR c.677C/T and c.1298A/C polymorphisms werenot found to be associated with NTG and POAG. Further studies in thedifferent ethnic populations should be performed to elucidate therelationship between MTHFR and OAG.

[学科分类] 生物化学/生物物理