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S. Woo, J. Kim, D. Kim, S. Park, H. Ko, T. Yoo; Association of 5,10-Methylenetetrahydrofolate Reductase Gene Polymorphism with Normal-tension Glaucoma . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1113.
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Purpose: To compare the frequency of polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene between patients with normal-tension glaucoma (NTG) and healthy subjects. Methods: Thirty-seven NTG patients and 42 healthy subjects without systemic vascular diseases including hypertension and diabetes were enrolled. DNA from peripheral blood lymphocytes was extracted and the genotype of polymorphism (C677T) in the MTHFR gene was determined using PCR followed by HinfI digestion. The frequencies of the polymorphic genotypes in patients with NTG and healthy subjects were compared using the chi-square test. Results: The frequencies of the three genotypes of the MTHFR gene in NTG patients (n = 37) were determined to be as follows; the TT genotype was found in 13 patients (35.1%), the CT genotype in 14 (37.8%) and the CC genotype in 10 (27.0%). In healthy subjects (n = 42), the TT genotype was found in 6 (14.3%), the CT genotype in 21 (50.0%) and the CC genotype in 15 (35.7%). The TT genotype was found to be significantly more frequent in the NTG patients than in the healthy subjects (p =0.030, odds ratio of 3.3, 95% C.I. = 1.1 - 9.7). Conclusions: The TT genotype of the MTHFR gene was found to be significantly associated with NTG, which suggests that vascular pathology might play a role in the pathogenesis of NTG.
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