环指蛋白213基因单核苷酸多态性与中国汉族缺血性卒中相关性研究

Association between Ring Finger Protein 213 gene polymorphism and ischemic stroke in a Chinese Han population

目的探讨环指蛋白213（RNF213）基因P．R4810K（G〉A）单核苷酸多态性与中国汉族缺血性卒中的关系。方法纳入2013年6月～2013年12月入住郑州大学第一附属医院神经内科汉族缺血性脑卒中患者，所有患者均行血管影像学检查，包括磁共振血管成像（MRA）或者CT血管成像（CTA），分为颅内大动脉狭窄或闭塞亚组（intracranial major artery stenosis／occlusion，ICASO）及无颅内大动脉狭窄或闭塞亚组（norl-ICASO），同时选取性别、年龄与缺血性脑卒中组相匹配的健康汉族人为对照组。通过聚合酶链式反应及直接测序方法行多态性位点分析。结果共纳入285例中国汉族缺血性脑卒中患者，其中139例（48．8％）存在不同程度颅内动脉狭窄或者闭塞，146例（51．2％）无颅内大动脉狭窄或闭塞。RNF213基因P．R4810K多态性在缺血性卒中组、1CASO亚组、非ICASO亚组、正常对照组的发生率分别为0．35％（1／285）、0．72％（1／139）、0（0／146）、0．33％（1／300）。和对照组相比，RNF213基因P．R4810K多态性与缺血性卒中组差异无统计学意义（P=1，oddsratio[OR]1．053，95％confi-denceinterval[CI]0．066-16．912），与合并颅内大动脉狭窄或者闭塞亚组问差异同样无统计学意义（P=0．533，OR2．167，95％CI0．135-34．894）。结论RNF213基因P．R4810K单核苷酸多态性与中国汉族缺血性脑卒中及存在ICASO的缺血性脑卒中患者的易患性无相关性，但需在较大样本中进一步验证。

Objective To explore the association between P. R4810K （ G 〉 A） polymorphism of ring finger protein 213 （RNF213） gene and ischemic stroke （IS） in a Chinese Han population. Methods The IS inpatients and health con- trols in the first Affiliated Hospital of Zhengzhou University were recruited from June 2013 to December 2013. The IS pa- tients were divided into intracranial major artery stenosis/occlusion （ICASO） subgroup and non-ICASO subgroup according to the MRA or CTA. All the subjects were Han Chinese in origin. The occurrence of P. R4810K variant was evaluated by technology of polymerase chain reaction （PCR） and direct DNA sequencing. The frequencies of the variant were compared between IS group and control group. Results A total of 285 IS patients and 300 controls were enrolled, which contained 139 ICASO subjects and 146 non-ICASO subjects. One of 285 patients （0.35%） with IS,one of 139 patients （0.72%） with ICASO,none in non-ICASO subgroup and one of 300 controls （0.33%） had the variant. Comparison of each pheno- type group with controls showed that the presence of P. R4810K variant had no associations with IS （ P = 1, OR, 1. 053 ; 95%CI0.066 -16.912） and ICASO （P=O. 533,0R,2. 167; 95%CI0. 135 -34.894）. Conclusion P. R4810K poly- morphism of RNF213 gene may be not associated with IS and ICASO in Chinese Han population.