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首页> 外文期刊>Journal of stroke and cerebrovascular diseases: The official journal of National Stroke Association >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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RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis

机译：RNF213 P.R4810K多态性和Moyamoya病的风险，颅内主要动脉狭窄/闭塞，以及拟莫达玛病：META分析

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Background: Accumulating studies have reported that there is an association between the Ring finger protein 213 (RNF213) p.R4810K (rs112735431, c.14576GA) 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.
机译：背景：累积研究报告说，无序蛋白213（RNF213）P.R4810K（RS112735431，C.14576G＆GT; a）单核苷酸多态性和Moyamoya疾病（MMD）的易感性，颅内主要动脉狭窄/闭塞（ICASO），准莫达玛疾病（准MMD）和其他血管疾病。然而，到这一天，关于这种关联的分析在文献中仍然稀缺。我们试图进行META分析以系统地总结和澄清该问题。方法：搜索，检索和使用高达2018年1月的电子数据库。 Revman 5.2软件和Stata版本12.0用于统计分析。 RNF213 P.R4810K和MMD之间的关联，ICASO和准MMD通过多数比率和使用固定效应模型进行了95％的置信区间评估。通过I平方（12）评估研究之间的异质性（12）统计，并且一次通过省略1研究进行敏感性分析。漏斗图和BEGG测试用于评估潜在的出版物偏差。结果：结果表明，RNF213 P.R4810K和MMD，ICASO和拟MMD之间的统计显着相关，特别是在主导模型中。除了前2个疾病之外，在ICASO中的隐性，纯合理和杂合子模型中没有鉴定重大关联。结论：RNF213 P.R4810K与MMD，ICASO和不同遗传模型中的准MMD相关联。亚组分析表明日本患者的风险高度显着较高。然而，需要更良好设计的样本量和全面数据来确认我们的调查结果并提供深刻的结论。

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