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


Epidemiological studies have evaluated the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and primary open-angle glaucoma (POAG) risk. However, the results remain conflicting. The aim of this study was to investigate the association between MTHFRC677T polymorphism and POAG risk. All genetic association studies on MTHFR C677T polymorphism and POAG were systematically searched by the electronic databases PubMed, Embase and Web of Science. Study selection, data abstraction and study quality evaluation were conducted in duplicate independently. The strength of association between MTHFR C677T polymorphism and POAG was measured by odds ratios (ORs) and 95% confidence intervals (CIs). Publication bias was tested by Begg's funnel plot and Egger's regression test. A total of 10 studies including 1224 cases and 1105 controls were included in our final meta-analysis. There was no evidence of significant association of the overall population (for allelic model: OR = 1.17, 95% CI = 0.94–1.46; for additive model: OR = 1.15, 95% CI = 0.85–1.57; for dominant model: OR = 1.19, 95% CI = 0.92–1.55 and for recessive model: OR = 1.11, 95% CI = 0.83–1.49). Significant associations were found between MTHFR C677T polymorphisms and POAG in allelic model (OR = 1.39, 95% CI = 1.05–1.83) and additive model (OR = 1.88, 95% CI = 1.04–3.43) for population-based (PB) subgroup. This meta-analysis suggested that there were significant associations between MTHFR C677T polymorphism and POAG in allelic model and additive model for PB subgroup which indicated that the T allele or TT genotype might increase the risk of POAG, whereas no evidence of significant association was shown of the overall studied population. However, this conclusion should be interpreted cautiously. More large sample-size and multi-ethnicity studies with well-defined POAG patients and well-study design are needed in the future study.



► We performed a meta-analysis to derive a more precise estimation of the relationship.

► Our study has the potential to detect small effects in genetic association studies.

► It is the first meta-analysis on C677T mutation and POAG.

► There were no significant association between MTHFR C677T mutation and POAG.


  • POAG, primary open-angle glaucoma;
  • MTHFR, methylenetetrahydrofolate reductase;
  • HWE, Hardy-Weinberg equilibrium;
  • OR, odds ratio;
  • CI, confidence interval;
  • PB, population-based;
  • HB, hospital-based;
  • NOS, Newcastle-Ottawa Scale


  • Primary open-angle glaucoma;
  • Methylenetetrahydrofolate reductase;
  • Polymorphism;
  • Meta-analysis


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