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Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease

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资源类型：

收录情况： ◇ SCIE

作者：
Peicong Ge[1,2,3,4,5] * ; Xun Ye[1,2,3,4,5] ; Xingju Liu[1,2,3,4,5] ; Xiaofeng Deng[1,2,3,4,5] ; Rong Wang[1,2,3,4,5] ; Yan Zhang[1,2,3,4,5] ; Dong Zhang[1,2,3,4,5] ; Qian Zhang[1,2,3,4,5] ; Jizong Zhao[1,2,3,4,5,6] ;
机构： [1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China, [2]China National Clinical Research Center for Neurological Diseases, Beijing, China, [3]Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China, [4]Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China, [5]Beijing Translational Engineering Center for 3D Printer in Clinical Neuroscience, Beijing, China, [6]Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China
出处：
DOI： 10.3389/fneur.2019.00662
ISSN：

关键词： moyamoya disease p R4810K variant clinical features clinical outcome stroke

摘要：
Objective: To estimate the association between p. R4810K variant and clinical outcomes of patients with moyamoya disease (MMD). Methods: The p.R4810K genetic variant was genotyped among 498 Chinese patients with MMD conducted from June 1, 2012, to June 31, 2017. Data was obtained by retrospective chart review, follow-up information and outcome were obtained through clinical visits and telephone. Results: Among 498 patients, 361 (72.5%) were wild-type patients (G/G), 133 (26.7%) heterozygous patients (G/A), and 4 (0.8%) homozygotes (NA). Compared with GG group, the patients in the G/A+A/A group were younger at diagnosis and had more familial cases, more transient ischemic attack cases, more posterior cerebral artery involved hemispheres, less unilateral lesions. After the median 53 months follow-up, strokes occurred in 9 patients in the G/A+A/A group and in 52 in the G/G group. Multivariate Cox regression analysis showed that the history of hypertension (HR, 2.294; 95% CI, 1.251-4.206; p = 0.007), the presence of TIA (HR, 0.319; 95% CI, 0.120-0.846; p = 0.022), and the Suzuki stage (HR, 1.510; 95% CI, 1.129-2.018; p = 0.005) were associated with recurrent stroke. The p.R4810K (HR, 0.601; 95% CI, 0.292-1.239; p = 0.168) was not associated with recurrent stroke. Multivariate logistic regression analysis showed that recurrent stroke (OR, 5.997; 95% CI, 2.583-13.924; p = 0.000) was the only factor associated with unfavorable neurological status. And the p.R4810K (OR, 0.885; 95% CI, 0.482-1.627; p = 0.695) was not associated with neurological status. Conclusions: Compared to the patients in G/G group, patients in G/A+A/A group exhibited different clinical features, and had a lower rate of recurrent stroke and better clinical outcome after early medical and surgical interventions. Multivariate COX and logistic regression analysis showed that p.R4810Kvariant was not related to either recurrent stroke or neurological status. The p.R4810Kvariant may not be associated with long-term clinical outcome in Chinese patients with MMD.

基金：
National Key Technology Research and Development Program of the Ministry of Science and Technology of ChinaNational Key Technology R&D Program [2015BAI12B04]; Beijing Municipal Organization Department talents project [2015000021469G219]; Beijing Municipal ST Commission [D161100003816005]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81701137]; Beijing Municipal Administration of Hospitals' Mission Plan [SML20150501]; Beijing Municipal Science and Technology CommissionBeijing Municipal Science & Technology Commission [Z13110200680000]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2018]版：
大类 | 2 区 医学
小类 | 3 区 临床神经病学 3 区 神经科学
最新[2023]版：
大类 | 3 区 医学
小类 | 3 区 临床神经病学 3 区 神经科学
JCR分区：
出版当年[2017]版：
Q2 NEUROSCIENCES Q2 CLINICAL NEUROLOGY
最新[2023]版：
Q2 CLINICAL NEUROLOGY Q3 NEUROSCIENCES

影响因子： 最新[2023版] 最新五年平均 出版当年[2017版] 出版当年五年平均 出版前一年[2016版] 出版后一年[2018版]

第一作者：
第一作者机构： [1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China, [2]China National Clinical Research Center for Neurological Diseases, Beijing, China, [3]Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China, [4]Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China, [5]Beijing Translational Engineering Center for 3D Printer in Clinical Neuroscience, Beijing, China,
通讯作者：
通讯机构： [1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China, [2]China National Clinical Research Center for Neurological Diseases, Beijing, China, [3]Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China, [4]Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China, [5]Beijing Translational Engineering Center for 3D Printer in Clinical Neuroscience, Beijing, China, [6]Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China
推荐引用方式(GB/T 7714)：
Peicong Ge,Xun Ye,Xingju Liu,et al.Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease[J].FRONTIERS IN NEUROLOGY.2019,10(JUN):-.doi:10.3389/fneur.2019.00662.
APA：
Peicong Ge,Xun Ye,Xingju Liu,Xiaofeng Deng,Rong Wang...&Jizong Zhao.(2019).Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease.FRONTIERS IN NEUROLOGY,10,(JUN)
MLA：
Peicong Ge,et al."Association Between p.R4810K Variant and Long-Term Clinical Outcome in Patients With Moyamoya Disease".FRONTIERS IN NEUROLOGY 10..JUN(2019):-

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