Association between p.R4810K Variant and Postoperative Collateral Formation in Patients with Moyamoya Disease
Association between p.R4810K Variant and Postoperative Collateral Formation in Patients with Moyamoya Disease
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p.R4810K 变异与烟雾病患者术后侧支形成的关联
DOI：
10.1159/000503250
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发表时间：
2019-10
影响因子：
2.9
通讯作者：
Zhao Jizong
中科院分区：
文献类型：
--
作者：
Ge Peicong;Ye Xun;Liu Xingju;Deng Xiaofeng;Wang Jia;Wang Rong;Zhang Yan;Zhang Dong;Zhang Qian;Zhao Jizong
目的：探讨p.R4810K基因变异与烟雾病患者术后侧支循环形成（PCF）的关系。方法：对254例中国人烟雾病患者进行p.R4810K基因突变检测。手术治疗的273个半球，术前和术后数字减影血管造影。使用血管造影术在侧位和前后位视图上评价PCF。单因素和多因素Logistic回归分析PCF的影响因素。结果如下：在254例患者中，191例（75.2%）患者携带野生型p.R4810K变异体（GG），63例（24.8%）患者携带杂合型p.R4810K变异体（GA）。GA患者PCF在侧位和前后位均优于GG患者（p < 0.001和p < 0.001）。在出院后中位随访7个月内，在201个半球（73.6%）中观察到PCF良好，在72个半球（26.4%）中观察到PCF较差。单变量logistic回归显示GA患者（OR 4.681; 95% CI 1.925-11.383; p = 0.001）与良好PCF相关。另一方面，年龄增加（OR 0.971; 95% CI 0.952-0.989; p = 0.002）和出血（OR 0.189; 95% CI 0.096-0.374; p = 0.000）与PCF较差相关。p.R4810K变体和临床变量的多变量逻辑回归分析显示，GA（OR 3.671; 95% CI 1.452-9.283; p = 0.006）与良好PCF相关，而出血（OR 0.258; 95% CI 0.065-0.362; p = 0.000）被确定为不良PCF的预测因子。结论：杂合型p.R4810K变异与更好的PCF相关。
Object: To investigate the association between p.R4810K variant and postoperative collateral formation (PCF) in patients with moyamoya disease. Methods: The p.R4810K variant was detected in 254 Chinese moyamoya patients. Surgically treated 273 hemispheres with preoperative and postoperative digital subtraction angiography were included. PCF was evaluated on lateral and anteroposterior views using angiography. Univariate and multivariate logistic regression analyses were performed to determine the influence factors for PCF. Results: Among 254 patients, 191 (75.2%) patients carried wild-type p.R4810K variant (GG) and 63 patients (24.8%) carried the heterozygous p.R4810K variant (GA). PCF was better in patients with GA than in patients with GG both on lateral views and anteroposterior views (p < 0.001 and p < 0.001). Over the median 7 months follow-up after discharge, good PCF was observed in 201 hemispheres (73.6%), and poor PCF was observed in 72 hemispheres (26.4%). The univariable logistic regression showed that patients with GA (OR 4.681; 95% CI 1.925–11.383; p = 0.001) was associated with good PCF. On the other hand, the increasing age (OR 0.971; 95% CI 0.952–0.989; p = 0.002) and the presence of hemorrhage (OR 0.189; 95% CI 0.096–0.374; p = 0.000) were associated with poor PCF. Multivariate logistic regression analyses of p.R4810K variant and clinical variables showed that GA (OR 3.671; 95% CI 1.452–9.283; p = 0.006) was associated with a good PCF, while the presence of hemorrhage (OR 0.258; 95% CI 0.065–0.362; p = 0.000) was identified as a predictor of poor PCF. Conclusions: The heterozygous p.R4810K variant was associated with better PCF.
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影响因子：
8.2
作者：
Kim JS
通讯作者：
Kim JS
影响因子：
8.2
作者：
Fujimura M;Sonobe S;Nishijima Y;Niizuma K;Sakata H;Kure S;Tominaga T
通讯作者：
Tominaga T
影响因子：
2
作者：
Qian Zhang;Dong Zhang;Rong Wang;Yaping Liu;Yan Zhang;Shuo Wang;Ji-zong Zhao
通讯作者：
Qian Zhang;Dong Zhang;Rong Wang;Yaping Liu;Yan Zhang;Shuo Wang;Ji-zong Zhao
不同手术方式对烟雾病患者临床结局的影响：一项前瞻性队列研究
影响因子：
4.1
作者：
Deng, Xiaofeng;Gao, Faliang;Zhao, Jizong
通讯作者：
Zhao, Jizong
影响因子：
4.1
作者：
Zhang, Qian;Liu, Yaping;Zhao, Jizong
通讯作者：
Zhao, Jizong