张东威　武燕　徐晓晨　刘跃辉　塔娜

[摘要] 目的 探讨内蒙古通辽市蒙古族缺血性脑卒中人群CYP2C19基因单核苷酸多态性的分布特点。 方法 在2014年8月～2015年5月期间，连续从我院选择蒙古族缺血性脑卒中患者100例，选取同期非缺血性脑卒中患者100例作为对照。收集病史及部分实验室检查结果，抽取静脉血进行DNA的提取，应用聚合酶链式反应及限制性片段长度多态性分析技术来检测CYP2C19基因的多态位点CYP2C19*2和CYP2C19*3，用卡方检验分析CYP2C19*2与CYP2C19*3基因型和等位基因的分布，应用Logistic回归深入分析CYP2C19基因多态性与缺血性脑卒中的相关性。 结果 在缺血性脑卒中组CYP2C19 681G→A频率53.54%，CYP2C19 636 G→A频率10.31%，在非缺血性脑卒中组CYP2C19 681G→A频率36.00%，CYP2C19 636 G→A频率15.15%。多变量Logistic回归分析发现，CYP2C19 681A基因型与蒙古族缺血性脑卒中相关。 结论 CYP2C19 681A基因型可能是通辽地区蒙古族人群发生缺血性脑卒中的独立危险因素。

[关键词] 蒙古族；CYP2C19；缺血性脑卒中；基因多态性

[中图分类号] R743 [文献标识码] A [文章编号] 1673-9701（2017）36-0001-05

[Abstract] Objective To investigate the distribution of CYP2C19 single nucleotide polymorphism in Mongolian ischemic stroke population in Tongliao City of Inner Mongolia. Methods 100 Mongolian patients with ischemic stroke in our hospital from August 2014 to May 2015 were continuously selected. 100 patients with non-ischemic stroke in the same period were selected as the control group. The medical history and some laboratory tests were collected. The venous blood was extracted for DNA extraction. The polymorphisms sites including CYP2C19*2 and CYP2C19*3 were detected by polymerase chain reaction and restriction fragment length polymorphism（PCR-RFLP） analysis technology. The distribution of CYP2C19*2 and CYP2C19*3 genotypes and alleles was analyzed by chi-square test. The correlation between CYP2C19 gene polymorphisms and ischemic stroke was analyzed by Logistic regression. Results The frequency of CYP2C19 681G→A was 53.54%， the frequency of CYP2C19 636 G→A was 10.31% in ischemic stroke group. The CYP2C19 681G→A frequency was 36.00% and the CYP2C19 636 G→A frequency was 15.15% in non-ischemic stroke group. Multivariate Logistic regression analysis found that CYP2C19 681A genotype was associated with Mongolian ischemic stroke. Conclusion CYP2C19 681A genotype may be an independent risk factor for ischemic stroke in Mongolian population in Tongliao area.

[Key words] Mongolian； CYP2C19； Ischemic stroke； Genetic polymorphism

腦卒中是好发于中老年人群的一组疾病，是成人慢性致残的主要原因[1]。近年来研究表明，脑卒中是导致与年龄相关的认知衰退和痴呆的重要原因[2]。抗血小板聚集方案在缺血性脑卒中治疗中不可或缺，在急性期积极应用拜阿司匹林或氯吡格雷等抗血小板药物可改善其预后。阿司匹林具有较强的刺激性，进入人体后可致胃肠道出血、溃疡等不良反应。氯吡格雷是除阿司匹林外最常用的一种抗血小板聚集药物，然而在实际医疗工作中发现部分口服常规剂量氯吡格雷的患者仍发生与血栓相关的恶性脑血管事件，这一现象人们用“氯吡格雷抵抗”（clopidogrel resistance，CPR）解释。……