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Abstract #13632 Published in IGR 8-2
Methylenetetrahydrofolatereductase (MTHFR) 677C > T polymorphism and open angle glaucoma
Mossbock G; Weger M; Faschinger C; Steinbrugger I; Temmel W; Schmut O; Renner W; Hufnagel C; Stanger OMolecular Vision 2006; 12: 356-359
PURPOSE: Increased plasma homocysteine levels have been found in patients with primary open angle glaucoma (POAG) and glaucoma secondary to pseudoexfoliation syndrome (PEXG). A common polymorphism of the methylenetetrahydrofolatereductase (MTHFR 677C > T) leads to moderately elevated plasma homocysteine levels particularly under conditions of impaired folate status. It was the aim of this study to investigate a hypothesized association between this polymorphism and the presence of either POAG or PEXG. METHODS: The present retrospective case-control study included a total of 553 participants comprising 204 patients with POAG, 138 patients with PEXG, and 211 control subjects. Genotyping for the MTHFR 677C > T polymorphism was performed by polymerase chain reaction (PCR). RESULTS: No significant difference in the genotype distribution of the MTHFR 677C > T polymorphism was found between control subjects and patients with POAG or PEXG. The prevalence of the MTHFR 677TT genotype 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 > T polymorphism itself is not a major genetic risk factor for POAG and PEXG in a central European population.
Dr. G. Mossbock, University Clinic for Ophthalmology, Medical University of Graz, Auenbruggerplatz 4, A-8036 Graz, Austria
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)