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Methylenetetrahydrofolatereductase (MTHFR) 677C>T polymorphism and open angle glaucoma
Georg Mossbock1, Martin Weger, Christoph Faschinger
1University Clinic for Ophthalmology, Medical University of Graz, Graz, Austria. mossboeckg@gmx.net
Molecular Vision
|April 26, 2006
Summary
The methylenetetrahydrofolate reductase (MTHFR 677C>T) polymorphism is not a significant genetic risk factor for primary open angle glaucoma (POAG) or pseudoexfoliation glaucoma (PEXG). This study found no association between the MTHFR 677C>T genotype and these glaucoma types.
Area of Science:
- Ophthalmology
- Genetics
- Biochemistry
Background:
- Elevated plasma homocysteine is linked to primary open angle glaucoma (POAG) and pseudoexfoliation glaucoma (PEXG).
- The methylenetetrahydrofolate reductase (MTHFR 677C>T) polymorphism can increase homocysteine levels, especially with low folate status.
Purpose of the Study:
- To investigate the association between the MTHFR 677C>T polymorphism and the occurrence of POAG or PEXG.
- To determine if MTHFR 677C>T is a genetic risk factor for POAG and PEXG.
Main Methods:
- Retrospective case-control study.
- Included 553 participants: 204 POAG patients, 138 PEXG patients, and 211 controls.
- Genotyping for MTHFR 677C>T polymorphism using polymerase chain reaction (PCR).
Main Results:
- No significant difference in MTHFR 677C>T genotype distribution between control subjects and POAG or PEXG patients.
- Prevalence of MTHFR 677TT genotype: 6.9% in POAG, 11.6% in PEXG, and 9.5% in controls.
Conclusions:
- The MTHFR 677C>T polymorphism is not a major genetic risk factor for POAG or PEXG.
- Findings are specific to the central European population studied.