The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a meta-analysis based on case-control studies
The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a meta-analysis based on case-control studies
复制标题
无名指蛋白213（RNF213）多态性与烟雾病易感性之间的关联：基于病例对照研究的荟萃分析
DOI：
10.1007/s00438-016-1172-5
复制
发表时间：
2016-06-01
影响因子：
3.1
通讯作者：
Sheng, Wen-Li
中科院分区：
文献类型：
--
作者：
Sun, Xun-Sha;Wen, Jun;Sheng, Wen-Li
许多研究评估了无名指蛋白213 （RNF213）基因多态性与烟雾病（MMD）的关系，但结果并不完全一致。本荟萃分析旨在探讨亚洲人群中RNF213多态性与烟雾病之间的关系。系统检索PubMed、MEDLINE、EMBASE、ISI web of science、CNKI、China CBM和万方数据库，检索截至2015年3月的已发表研究。采用STATA12.0软件进行统计分析。采用固定或随机效应模型、亚组分析、敏感性分析、发表偏倚等方法完善综合分析。meta分析纳入了8篇论文，包括904名烟雾病患者和2258名对照。在所有遗传模型中，rs112735431与亚洲人群患烟雾病的风险密切相关（显性模型：OR 103.39, 95% CI 52.25-204.55, P = 1.69e-40；隐性模型：OR 16.45, 95% CI 6.00-45.10, P = 5.33e-08；加性模型：OR 61.49, 95% CI 22.07-171.33, P = 3.32e-15），尤其是在日本人群中。亚组分析显示，有家族病史的患者风险较高。虽然另一个多态性rs148731719与烟雾病无显著相关性，但发现rs138130613与中国人群的高风险相关（优势模型：OR 8.34, 95% CI 1.72-40.47, P = 0.008）。我们的荟萃分析表明，RNF213 rs112735431与日本人患烟雾病的风险增加密切相关，联合rs112735431和rs138130613筛查可能提高中国烟雾病的检出率。
A number of studies assessed the association of ring finger protein 213 (RNF213) gene polymorphisms with moyamoya disease (MMD), but the results were not entirely consistent. This meta-analysis was performed to explore the relationship between RNF213 polymorphisms and moyamoya disease in Asian population. A systematic search from the PubMed, MEDLINE, EMBASE, ISI web of science, CNKI, China CBM and WANFANG DATA databases was conducted to retrieve published studies until March 2015. Statistical analyses were performed using the STATA12.0 software. Fixed or random effects model, subgroup analysis, sensitivity analysis, and publication bias were used to improve the comprehensive analysis. Eight papers including 904 MMD patients and 2258 controls were recruited in the meta-analysis. rs112735431 was closely associated with the risk of MMD among Asian population in all genetic models (dominant model: OR 103.39, 95 % CI 52.25-204.55, P = 1.69e-40; recessive model: OR 16.45, 95 % CI 6.00-45.10, P = 5.33e-08; additive model: OR 61.49, 95 % CI 22.07-171.33, P = 3.32e-15), especially in the Japanese population. Subgroup analysis revealed highly statistically significant higher risk in the patients with family histories. Although another polymorphism rs148731719 showed no significant association with the MMD, rs138130613 was found to be related to the higher risk in Chinese population (dominant model: OR 8.34, 95 % CI 1.72-40.47, P = 0.008). Our meta-analysis strengthens RNF213 rs112735431 is closely associated with the increased risk of MMD in Japanese, and the screening combined with rs112735431 and rs138130613may improve the detection rate for MMD in China.