Department of Ophthalmology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, China.
Gene. 2013 Jan 10;512(2):179-84. doi: 10.1016/j.gene.2012.10.067. Epub 2012 Nov 1.
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.
流行病学研究评估了亚甲基四氢叶酸还原酶 (MTHFR) C677T 多态性与原发性开角型青光眼 (POAG) 风险之间的关联。然而,结果仍然存在争议。本研究旨在探讨 MTHFR C677T 多态性与 POAG 风险之间的关联。通过电子数据库 PubMed、Embase 和 Web of Science 系统地搜索了所有关于 MTHFR C677T 多态性与 POAG 的遗传关联研究。独立地进行了研究选择、数据提取和研究质量评估。MTHFR C677T 多态性与 POAG 之间关联的强度通过比值比 (OR) 和 95%置信区间 (CI) 来衡量。通过 Begg 漏斗图和 Egger 回归检验测试发表偏倚。我们的最终荟萃分析包括 10 项研究,共纳入 1224 例病例和 1105 例对照。总体人群中没有发现 MTHFR C677T 多态性与 POAG 显著相关的证据(等位基因模型:OR=1.17,95%CI=0.94-1.46;加性模型:OR=1.15,95%CI=0.85-1.57;显性模型:OR=1.19,95%CI=0.92-1.55,隐性模型:OR=1.11,95%CI=0.83-1.49)。在基于人群 (PB) 亚组中,MTHFR C677T 多态性与 POAG 在等位基因模型 (OR=1.39,95%CI=1.05-1.83) 和加性模型 (OR=1.88,95%CI=1.04-3.43) 中存在显著关联。这项荟萃分析表明,在基于人群的亚组中,MTHFR C677T 多态性与 POAG 在等位基因模型和加性模型中存在显著关联,表明 T 等位基因或 TT 基因型可能增加 POAG 的风险,但在整个研究人群中没有发现显著关联的证据。然而,这个结论应该谨慎解释。未来的研究需要更大样本量、多民族的研究,并且需要明确的 POAG 患者和良好的研究设计。