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Related Experiment Video

Updated: May 17, 2026

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
13:47

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Published on: June 3, 2018

Association between MTHFR C677T polymorphism and primary open-angle glaucoma: a meta-analysis.

Yan Huo1, Huan Zou, Min Lang

  • 1Department of Ophthalmology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, China.

Gene
|November 6, 2012
PubMed
Summary

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may increase the risk of primary open-angle glaucoma (POAG) in population-based studies. However, no significant association was found in the overall population, indicating a need for further research.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Epidemiology

Background:

  • Epidemiological studies have explored the link between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and primary open-angle glaucoma (POAG) risk.
  • Existing research presents conflicting results regarding this association.

Purpose of the Study:

  • To systematically evaluate the association between the MTHFR C677T polymorphism and POAG risk.
  • To synthesize findings from existing genetic association studies through a meta-analysis.

Main Methods:

  • A systematic search of PubMed, Embase, and Web of Science databases was conducted.
  • Data abstraction and quality evaluation were performed independently by two researchers.
  • Meta-analysis was used to measure the strength of association using odds ratios (ORs) and 95% confidence intervals (CIs).
  • Publication bias was assessed using Begg's funnel plot and Egger's regression test.

Main Results:

  • The meta-analysis included 10 studies with 1224 cases and 1105 controls.
  • No significant association was found for the overall population across various genetic models (allelic, additive, dominant, recessive).
  • Significant associations were observed in the population-based subgroup for the allelic model (OR=1.39, 95% CI=1.05-1.83) and additive model (OR=1.88, 95% CI=1.04-3.43).

Conclusions:

  • The MTHFR C677T polymorphism shows a significant association with POAG risk in population-based subgroups, suggesting the T allele or TT genotype may increase risk.
  • No significant association was detected in the overall studied population.
  • Further large-scale, multi-ethnic studies with well-defined POAG patients and robust study designs are necessary to confirm these findings.