Methylenetetrahydrofolatereductase (MTHFR) 677C>Tpolymorphism and open angle glaucoma

[摘要] Purpose: Increased plasma homocysteine levels have been found inpatients with primary open angle glaucoma (POAG) and glaucoma secondaryto pseudoexfoliation syndrome (PEXG). A common polymorphism of themethylenetetrahydrofolatereductase (MTHFR 677C>T) leads tomoderately elevated plasma homocysteine levels particularly underconditions of impaired folate status. It was the aim of this study toinvestigate a hypothesized association between this polymorphism and thepresence of either POAG or PEXG.Methods: The present retrospective case-control study included atotal of 553 participants comprising 204 patients with POAG, 138patients with PEXG, and 211 control subjects. Genotyping for theMTHFR 677C>T polymorphism was performed by polymerase chainreaction (PCR).Results: No significant difference in the genotype distribution ofthe MTHFR 677C>T polymorphism was found between control subjectsand patients with POAG or PEXG. The prevalence of the MTHFR 677TTgenotype was 6.9% in patients with POAG, 11.6% in patients with PEXG,and 9.5% in control subjects.Conclusions: The present data suggest that the MTHFR 677C>Tpolymorphism itself is not a major genetic risk factor for POAG and PEXGin a central European population.

[学科分类] 生物化学/生物物理