蒙古族缺血性腦卒中人群CYP2C19基因多態性的研究

張東威　武燕　徐曉晨　劉躍輝　塔娜

[摘要] 目的 探討內蒙古通遼市蒙古族缺血性腦卒中人群CYP2C19基因單核苷酸多態性的分布特點。 方法 在2014年8月～2015年5月期間，連續從我院選擇蒙古族缺血性腦卒中患者100例，選取同期非缺血性腦卒中患者100例作為對照。收集病史及部分實驗室檢查結果，抽取靜脈血進行DNA的提取，應用聚合酶鏈式反應及限制性片段長度多態性分析技術來檢測CYP2C19基因的多態位點CYP2C19*2和CYP2C19*3，用卡方檢驗分析CYP2C19*2與CYP2C19*3基因型和等位基因的分布，應用Logistic回歸深入分析CYP2C19基因多態性與缺血性腦卒中的相關性。 結果 在缺血性腦卒中組CYP2C19 681G→A頻率53.54%，CYP2C19 636 G→A頻率10.31%，在非缺血性腦卒中組CYP2C19 681G→A頻率36.00%，CYP2C19 636 G→A頻率15.15%。多變量Logistic回歸分析發現，CYP2C19 681A基因型與蒙古族缺血性腦卒中相關。 結論 CYP2C19 681A基因型可能是通遼地區蒙古族人群發生缺血性腦卒中的獨立危險因素。

[關鍵詞] 蒙古族；CYP2C19；缺血性腦卒中；基因多態性

[中圖分類號] R743 [文獻標識碼] A [文章編號] 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

腦卒中是好發于中老年人群的一組疾病，是成人慢性致殘的主要原因[1]。近年來研究表明，腦卒中是導致與年齡相關的認知衰退和癡呆的重要原因[2]。抗血小板聚集方案在缺血性腦卒中治療中不可或缺，在急性期積極應用拜阿司匹林或氯吡格雷等抗血小板藥物可改善其預后。阿司匹林具有較強的刺激性，進入人體后可致胃腸道出血、潰瘍等不良反應。氯吡格雷是除阿司匹林外最常用的一種抗血小板聚集藥物，然而在實際醫療工作中發現部分口服常規劑量氯吡格雷的患者仍發生與血栓相關的惡性腦血管事件，這一現象人們用“氯吡格雷抵抗”（clopidogrel resistance，CPR）解釋。……