MEF2A基因第11外显子CAG三联核苷酸重复序列多态性与动脉粥样硬化性脑梗死的相关性研究  

Relationship between exon 11 CAG triplet nucleotide repeats of myocyte enhancer binding factor-2A polymorphisms and ischemic stroke caused by large artery atherosclerosis

作　　者：王凤 应忠明[3] 朱敏 郑周 胡晓飞 王恩 伍嫦珠 何欣威 李卫玲 李彩 朱峰 金笑平 

机构地区：[1]温州医科大学附属台州医院神经内科,台州317000 [2]温州医科大学附属台州医院公共实验室,台州317000 [3]台州市中西医结合医院神经内科,317500

出　　处：《中华神经医学杂志》2017年第12期1259-1264,共6页Chinese Journal of Neuromedicine

基　　金：浙江省自然科学基金（LYl3H290003）浙江省医药卫生计划资助项目（2016KYAl86）台州市科技计划项目（1201KY01）

摘　　要：目的探讨肌细胞增强因子2A（MEF2A）基因第11外显子CAG三联核苷酸重复序列[（CAG）n]多态性与动脉粥样硬化性脑梗死的相关性。方法对温州医科大学附属台州医院神经内科自2010年6月至2014年12月收治的205例首发急性大动脉粥样硬化性脑梗死患者（脑梗死组）及同期体检正常的192例健康志愿者r对照组），采用聚合酶链反应产物直接测序技术（PCR-SBT）检测MEF2A基因第11外显子区域的基因多态性，分析其中（CnG）n多态性与动脉粥样硬化性脑梗死的相关性。结果在脑梗死组与对照组朋E尼A基因第11外显子区域均可检测到多种（CAG）n，重复序列数目主要集中在9～11个，且脑梗死组与对照组之间（CAG）n多态性分布差异有统计学意义（X^2=8．547，P=-0．036）；（CAG）9在脑梗死组中比例明显高于对照组，差异有统计学意义萨6．650，P=-0．010）。排除相关混杂因素后，Logistic回归分析显示收缩压及（CAG）9（OR=1．401，辟0．017。95％CI：1．063-1．847）是动脉粥样硬化性脑梗死发生的独立危险因素。结论MEF2A基因第11外显子（CAG）n多态性与动脉粥样硬化性脑梗死相关，（CAG）9可能是其易患基因之一。Objective To investigate the relationship between exon 11 CAG triplet nucleotide repeats （[CAG]n） of myocyte enhancer binding faetor-2A （MEF2A） polymorphisms and ischemic stroke caused by large artery atherosclerosis （LAA）. Methods Two hundred and five patients with first onset ischemic stroke caused by LAA, admitted to our hospital from June 2010 to December 2014, and 192 healthy controls were chosen in our study. The polymorphisms of exons 11 of MEF2A gene were genotyped by polymerase chain reaction- sequence-based typing （PCR-SBT）. The relation of ischemic stroke caused by LAA with polymorphisms of （CAG）n was analyzed. Results Different （CAG）n alleles could be detected, with repeated sequences of9-11. Frequencies for the different （CAG）n alleles in exon 11 CAG of MEF2A gene were not the same between the ischemic stroke patients and the controls （Xz=-8.547, P=-0.036）. The distribution fxequency of the （CAG）9 allele in the ischemic stroke group was significantly higher than that in the control group （Xz=6,650, P=-0.010）. Logistic regression analysis indicated that systolic pressure and （CAG）9 （OR=l.401, P=0.017, 95%CI： 1.063-1.847） were the independent risk factors of acute ischemic stroke caused by LAA. Conclusion The （CAG）n polymorphisms may be associated with ischemic stroke caused by LAA and the （CAG）9 allele may be one of the genetic susceptibility factors for this subtype of stroke.

关 键 词：肌细胞增强因子2A CAG三联核苷酸重复序列 基因多态性 脑梗死 

分 类 号：R743.3[医药卫生—神经病学与精神病学]