RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis
RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis
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DOI：
10.1016/j.jstrokecerebrovasdis.2018.04.013
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发表时间：
2018-08-01
影响因子：
2.5
通讯作者：
Liu, Wanyang
中科院分区：
文献类型：
--
作者：
Wang, Yue;Mambiya, Michael;Liu, Wanyang
背景资料：越来越多的研究报道环指蛋白213（Ring finger protein 213，RNF213）p.R4810K（rs112735431，c.14576G> A）单核苷酸多态性与烟雾病（moyamoya disease，MMD）、颅内大动脉狭窄/闭塞（intracranial major arterial stenosis/occlusion，ICASO）、类烟雾病（quasi-moyamoya disease，quasi-MMD）等血管疾病的易感性相关。然而，直到今天，关于这种关联的分析在文献中仍然很少。我们试图进行荟萃分析，系统地总结和澄清这个问题。方法：检索、检索和使用截至2018年1月的电子数据库。采用Revman 5.2软件和STATA 12.0版进行统计学分析。使用固定效应模型，通过比值比和95%置信区间评估RNF213 p.R4810K与MMD、ICASO和准MMD之间的关联。通过I-squared（12）统计评价研究间异质性，通过每次省略1项研究进行敏感性分析。使用漏斗图和Begg检验评估潜在的发表偏倚。结果如下：结果显示RNF213 p.R4810K与MMD、ICASO和准MMD之间存在统计学显著相关性，尤其是在显性模型中。除前2种疾病外，在ICASO的隐性、纯合子和杂合子模型下未发现显著关联。结论：RNF213 p.R4810K在不同的遗传模型中与MMD、ICASO和准MMD相关。亚组分析表明，日本患者的风险显著更高。然而，需要进一步设计良好的研究，更大的样本量和全面的数据来证实我们的发现，并提供一个深刻的结论。
Background: Accumulating studies have reported that there is an association between the Ring finger protein 213 (RNF213) p.R4810K (rs112735431, c.14576G>A) single nucleotide polymorphism and the predisposition of moyamoya disease (MMD), intracranial major artery stenosis/occlusion (ICASO), quasi-moyamoya disease (quasi-MMD), and other vascular diseases. However, to this day, analyses about this association have remained scarce in the literature. We attempted to conduct a meta-analysis to systematically summarize and clarify the issue. Methods: Electronic databases dated up to January 2018 were searched, retrieved, and used. Revman 5.2 software and STATA version 12.0 were used for statistical analysis. The association between RNF213 p.R4810K and MMD, ICASO, and quasi-MMD were assessed by odds ratios and 95% confidence intervals using fixed effects models. Between-study heterogeneity was evaluated by I-squared (12) statistics and sensitivity analysis was performed by omitting 1 study at a time. A funnel plot and Begg's test were used to assess the potential publication bias. Results: The outcomes showed a statistically significant association between RNF213 p.R4810K and MMD, ICASO, and quasi-MMD, especially in the dominant model. Apart from the first 2 diseases, no significant association was identified under the recessive, the homozygote, and the heterozygote models in ICASO. Conclusions: RNF213 p.R4810K was associated with MMD, ICASO, and quasi-MMD in different genetic models. Subgroup analysis indicated highly significantly higher risk in the Japanese patients. However, further well-designed studies with larger sample size and comprehensive data are needed to confirm our findings and provide a profound conclusion.