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PURPOSE: Hyperhomocysteinemia has been found in patients with primary open-angle glaucoma. The purpose of the present study was to determine if hyperhomocysteinemia-associated polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR) are overrepresented in primary open-angle glaucoma. METHODS: Patients with primary open-angle glaucoma (n = 243) and controls (n = 187) were analyzed for the MTHFR 677 C > T and 1298 A > C polymorphisms using minisequencing technique. RESULTS: No significant differences were observed in allele and genotype frequencies of the MTHFR 677C > T and 1298A > C polymorphisms between controls and the primary open-angle glaucoma group. CONCLUSIONS: If hyperhomocysteinemia is important in the pathogenesis of glaucoma, this study does not support a role for MTHFR polymorphisms in this context.
Dr. M. Zetterberg, Department of Clinical Neuroscience and Rehabilitation, Sahlgrenska Academy at Goteborg University, Sahlgrenska University Hospital/Molndal, 431 80 Molndal, Sweden. madeleine.zetterberg@gu.se
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)