RNF213基因rs6565666位点多态性与广东省颅内囊状动脉瘤患者发病的关系  

Association between RNF213 rs6565666 polymorphism and intracranial cystic aneurysms in patients from Guangdong Province

作　　者：范海燕 郭慎全 陈运昌 张炘[1] 李西锋[1] 何旭英[1] 段传志[1] Fan Haiyan;Guo Shenquan;Chen Yunchang;Zhang Xin;Li Xifeng;He Xuying;Duan Chuanzhi(National Key Clinical Specialty, Engineering Technology Research Center of Ministry of Education, Guangdong Key Laboratory of Brain Function Repair and Regeneration, Department of Neurosurgery, Zhujiang Hospital, Southern Medical University, Guangzhou 510282, China)

机构地区：[1]国家临床重点专科,教育部工程技术研究中心,广东省脑功能修复与再生重点实验室,南方医科大学珠江医院神经外科,广州510282

出　　处：《中华神经医学杂志》2019年第3期238-242,共5页Chinese Journal of Neuromedicine

基　　金：十三五国家重点研发计划(2017-sjwk-001).

摘　　要：目的探讨RNF213基因rs6565666位点多态性与广东省颅内囊状动脉瘤患者发病之间的关系。方法选择南方医科大学珠江医院神经外科自2016年2月至2018年10月收治、经数字减影血管造影(DSA)检查证实的250例颅内囊状动脉瘤患者为试验组,同期250例经CT血管造影(CTA)、磁共振血管成像(MRA)、DSA检查证实无颅内动脉瘤的住院患者或健康志愿者为对照组。采用聚合酶链式反应-连接酶检测反应(PCR-LDR)检测2组受试者外周血RNF213基因rs6565666位点的基因型并比较。结果与对照组比较,试验组患者rs6565666位点AG、AA基因型所占比例较高,GG基因型所占比例较低,差异均有统计学意义(P<0.05)。与对照组比较,试验组患者rs6565666位点等位基因A所占比例较高,差异有统计学意义(P<0.05)。试验组患者中动脉瘤破裂112例,未破裂138例。破裂组和未破裂组患者rs6565666位点基因型分布差异无统计学意义(P>0.05)。结论RNF213基因rs6565666位点多态性与广东省颅内囊状动脉瘤患者发病相关。Objective To investigate the association between RNF213 rs6565666 polymorphisms and intracranial cystic aneurysms in patients from Guangdong province. Methods Two hundred and fifty patients with intracranial cystic aneurysms, admitted to and conformed by digital substraction angiography (DSA) in our hospital from February 2016 to October 2018, were selected as experimental group;and 250 patients without intracranial aneurysms conformed by DSA, CT angiography or magnetic resonance angiography at the same time period were used as control group. The genotypes of rs6565666 locus of RNF213 gene were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR). Results As compared with those in the control group, percentages of AG and AA genotypes were significantly higher and percentage of GG genotype was statistically higher at rs6565666 locus of patients from the experimental group (P<0.05). The proportion of allele A at rs6565666 locus in the experimental group was statistically higher as compared with that in the control group (P<0.05). In the experimental group, 112 patients had ruptured aneurysms and 138 patients did not have ruptured aneurysms;there was no statistically significant difference in the genotype distribution of rs6565666 between the ruptured group and the non-ruptured group (P>0.05). Conclusion RNF213 gene rs6565666 polymorphism is associated with intracranial cystic aneurysms in patients from Guangdong province.

关 键 词：RNF213基因 颅内囊状动脉瘤 基因型 

分 类 号：R743[医药卫生—神经病学与精神病学]