Myocilin基因Gln368STOP位点突变与原发性开角型青光眼相关性的Meta分析

目的研究Myocilin（MYOC）基因Gln368STOP位点突变与原发性开角型青光眼（POAG）的相关性。方法以POAG患者和对照组基因型分布的优势比（OR）为统计量。电子检索和手工检索相关文献,剔除不符合要求的文献,应用RevMan 4．2软件对各纳入研究结果进行异质性检验,采用相应数学模型进行数据合并,并评价发表偏倚的影响。结果共检索到符合要求的文献11篇,均为病例-对照研究,POAG患者共3077例,对照组共2063例,数据合并结果显示POAG组与对照组发生Gln368STOP位点突变的OR值（95％C1）为6．01（2．57～14．04,P〈0．01）。结论MYOC基因Gln368STOP位点突变与POAG患病风险增加相关,是POAG发病的危险因素之一。

Meta-analysis on the association of Myocilin Q368X mutation and primary open angle glaucoma

OBJECTIVE: To study the association between Myocilin (MYOC) Gln368STOP mutation and primary open angle glaucoma (POAG) by means of Meta-analysis. METHODS: Odds ratios (OR) of MYOC Gln368STOP genotype distributions in POAG patients verse the controls were analyzed. All the relevant reported studies were identified. Poor-qualified studies were eliminated, and the risk of publication bias was excluded. Meta-analysis software, RevMan 4.2, was applied for investigating heterogeneity among individual studies and summarizing the effects across studies. RESULTS: A total of 3077 POAG cases and 2063 controls from 11 studies were included. No heterogeneity among these studies was noticed (P = 0.79). The pooled OR (with 95% CI) of MYOC Gln368STOP in POAG cases versus that in the controls was 6.01 (2.57 - 14.04, P < 0.01). CONCLUSION: MYOC Gln368STOP mutation might be associated with the increased risk of POAG and is one of its risk factors.