脑梗死、冠心病患者载脂蛋白AI基因第三内含子MspI位点多态性研究  

Association of Polymorphisms of the Apolipoprotein AI Gene with Coronary Heart Disease and Atherosclerotic Cerebral Infarction Patients

作　　者：顾云[1] 王绿娅[1] 吴桂贤 王薇 秦兰平 刘军 吴兆苏 

机构地区：[1]北京心肺血管疾病研究所动脉硬化研究室 [2]心血管流行病研究室,北京市100029

出　　处：《中国动脉硬化杂志》2000年第3期209-212,共4页Chinese Journal of Arteriosclerosis

基　　金：北京市自然科学基金!资助项目 (795 2 0 0 4)

摘　　要：为了观察载脂蛋白AI基因第三内含子MspI位点多态性在北京地区汉族人群冠心病患者和脑梗死患者中的分布特点 ,探讨其与脂质代谢的关系 ,采用聚合酶链反应扩增技术对 783例个体载脂蛋白AI基因型进行分析 ,其中脑梗死组 2 36例 ,冠心病组 2 2 6例 ,对照组 32 1例 ,同时测定血脂及载脂蛋白。结果显示载脂蛋白AI基因第三内含子M2 等位基因频率与冠心病密切相关。M2 等位基因频率为 0 .387,与对照组相比增加 (P <0 .0 5 ) ;M2 等位基因频率脑梗死组与对照组相比有所增加 ,但统计学上未见差异 (P >0 .0 5 )。M2 M2 纯合等位基因型组的血脂变量与M1M1及M1M2 等位基因型组比较无论是在对照组还是在冠心病、脑梗死组中均存在显著差异。提示载脂蛋白AI基因第三内含子M2 等位基因的检出为进一步揭示该基因在冠心病发病及冠心病、脑梗死脂质代谢中的作用提供了良好的遗传标记 ,对预测血脂相关性疾病的危险性具有重要意义。Aim To investigated the polymorphisms of the apolipoprotein AI(apoAI) gene with coronary heart disease (CHD) and atherosclerotic cerebral infarction (ACI) patients in Beijing area. And to evaluate the association of polymorphisms of MspI with variable of lipid. Methods Using the polymerase chain reaction (PCR), We studied the polymorphism of MspI in 226 patients with CHD and 236 patients with ACI and 321 age-matched healthy individuals. Results The polymorphic site was the MspI site in the third intron of apoAI gene, whose presence has previously been shown to be associated with CHD. The frequencies of the MspI minor allele M 2 were 0.387 in CHD patients (P<0.05). There were no difference in the frequencies of minor allele M 2 between ACI patients and controls (P>0.05). There were apparent differences in the genotypes of apoAI gene and several lipid variables among the CHD patients, ACI patients and control group. Conclusions M 2 allele in the third intron of the apoAI gene may associated with CHD and ACI and presumably through its influences on lipid metabolism to increase the susceptibility to atherosclerosis disease.

关 键 词：载脂蛋白AI 基因 多态性 冠状动脉疾病 脑梗死 

分 类 号：R743.33[医药卫生—神经病学与精神病学] R541.4[医药卫生—临床医学]