Zhang Qian, Yu Lebao, Ge Peicong, Ma Yonggang, Zhang Dong, Zhang Yan, Wang Rong, Wang Shuo, Zhao Yuanli, Cao Yong, Liu Xingju, Deng Xiaofeng, Zhao Jizong
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China; Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China; Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China.
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; China National Clinical Research Center for Neurological Diseases, Beijing, China; Center of Stroke, Beijing Institute for Brain Disorders, Beijing, China; Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease, Beijing, China.
J Stroke Cerebrovasc Dis. 2018 Jun;27(6):1556-1564. doi: 10.1016/j.jstrokecerebrovasdis.2018.01.004. Epub 2018 Feb 23.
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.
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.
In our case-control 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.
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.
颅内主要动脉狭窄/闭塞（ICASO）是全球缺血性卒中的常见病因。多项研究评估了无名指蛋白213（RNF213）基因中p.R4810K多态性与ICASO的相关性，但结果并不完全一致。
我们进行了一项病例对照研究，以评估中国人群中p.R4810K多态性与ICASO风险之间的关联。共纳入124例患者和230例对照。此外，进行了一项荟萃分析以评估东亚人群中的这种关联。
在我们的病例对照研究中，ICASO患者中p.R4810K的G/A基因型频率显著高于对照组（分别为4.03%对0.43%，P = 0.021）。此外，在荟萃分析中，我们评估了7项病例对照研究，其中包括1239例患者和1377例对照。合并优势比（OR）表明，在显性模型（OR = 9.37，95%置信区间：4.61 - 19.02，P = 0.000）、杂合子比较（OR = 8.97，95%CI：4.41 - 18.25，P = 0.000）以及东亚人群的等位基因比较（OR = 9.50，95%置信区间：4.71 - 19.19，P = 0.000）中，p.R4810K多态性与ICASO风险之间存在显著关联。基于种族的亚组分析显示，日本和韩国人群的风险高于中国人群。
p.R4810K多态性与东亚人群中ICASO风险增加相关。需要进一步研究RNF213蛋白的功能以及这种ICASO亚型的临床特征。
