机构：[1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China重点科室诊疗科室神经外科神经外科首都医科大学附属天坛医院[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.
Background: Intracranial major artery stenosis/occlusion (ICASO) is a common cause of ischemic stroke worldwide. A number of studies have assessed the association of the p.R4810K polymorphism in the ring finger protein 213 (RNF213) gene with ICASO, but the results have not been entirely consistent. Methods: We conducted a case-control study to estimate the association between the p.R4810K polymorphism and the risk of ICASO in a Chinese population. A total of 124 patients and 230 controls were enrolled. Moreover, a meta-analysis was performed to evaluate this association in the East Asian populations. Results: In our casecontrol study, the frequencies of the G/A genotype of p. R4810K were significantly higher in the ICASO patients than in the control group (4.03% versus.43%, P =.021, respectively). Moreover, in the meta-analysis, we assessed 7 case-control studies that included 1239 patients and 1377 controls. The pooled odds ratios (ORs) indicated significant association between the p. R4810K polymorphism and the ICASO risk in the dominant model (OR = 9.37, 95% confidence interval: 4.61-19.02, P =.000), the heterozygote comparison (OR = 8.97, 95% CI: 4.41-18.25, P =.000), and the allele comparison (OR = 9.50, 95% confidence interval: 4.71-19.19, P =.000) in the East Asian populations. Subgroup analysis based on ethnicity revealed that the risks in the Japanese and the Korean populations were higher than that in the Chinese population. Conclusions: The p.R4810K polymorphism was associated with an increased risk of ICASO in the East Asian populations. Further studies on the function of the RNF213 protein and the clinical features of this subtype of ICASO are needed.
基金：
National Science and Technology Major Projects of China [2006BAI01A13, 2015BAI12B04]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China [81371292]; Program of Capital Medical University Basic-Clinical Cooperation [17JL44]
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.
共同第一作者：
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.[*1]Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantanxili, DongCheng District, Beijing 100050 China
推荐引用方式(GB/T 7714)：
Qian Zhang,Lebao Yu,Peicong Ge,et al.Association of Ring Finger Protein 213 Gene P.R4810k Polymorphism with Intracranial Major Artery Stenosis/Occlusion[J].JOURNAL OF STROKE & CEREBROVASCULAR DISEASES.2018,27(6):1556-1564.doi:10.1016/j.jstrokecerebrovasdis.2018.01.004.
APA：
Qian Zhang,Lebao Yu,Peicong Ge,Yonggang Ma,Dong Zhang...&Jizong Zhao.(2018).Association of Ring Finger Protein 213 Gene P.R4810k Polymorphism with Intracranial Major Artery Stenosis/Occlusion.JOURNAL OF STROKE & CEREBROVASCULAR DISEASES,27,(6)
MLA：
Qian Zhang,et al."Association of Ring Finger Protein 213 Gene P.R4810k Polymorphism with Intracranial Major Artery Stenosis/Occlusion".JOURNAL OF STROKE & CEREBROVASCULAR DISEASES 27..6(2018):1556-1564
