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新疆维汉两民族冠心病患者载脂蛋白E基因多态性研究 被引量:5

Study of Apolipoprotein E Gene Polymorphisms in Xinjiang Uygur and Han Patients with Coronary Artery Disease
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摘要 目的探讨新疆乌鲁木齐地区维汉两民族冠心病患者载脂蛋白E(ApoE)基因多态性与冠心病的关系。方法用酚氯仿抽提核酸法从凝血块中分离DNA ,用多聚酶链式反应 -限制性片段长度多态性 (PCR -RFLP)方法对新疆乌鲁木齐地区维汉两民族103例冠心病患者和54例对照组人群进行ApoE基因多态性 (由ε2、ε3和ε4决定的E2/2、E3/3、E4/4、E4/2、E4/3和E3/2)HhaI酶切研究。结果(1)维族中ApoE之ε2,ε3和ε4等位基因频率分别为0.221±0.373,0.647±0.380和0.132±0.224 ,与汉族(0.081±0.196 ,0.772±0.315和0.146±0.237)比较 ,ε2明显增高 (P<0.05) ,ε3和ε4虽有减低但无显著差别(P>0.05)。(2)ApoE之ε2,ε3和ε4等位基因频率在冠心病组分别为0.073±0.215,0.777±0.311和0.151±0.241 ,与对照组(0.185±0.296 ,0.685±0.367和0.130±0.221)比较 ,ε2明显减低(P<0.05) ,维族中更明显 (0.105±0.315对0.367±0.296,P<0.05) ,ε3和ε4虽有升高但无显著差别(P>0.05)。(3)由ε2到ε4低密度脂蛋白胆固醇 (LDL)、总胆固醇 (TC)和甘油三酯逐渐升高。ε2缺失与冠心病其它危险因子一起作Logistic回归分析 ,ε2缺失 (危险比RR=3.45 ,P<0.05)为冠心病的危险因子之一。结论新疆乌鲁木齐地区维汉两民族人群中 (1) Objective This study was designed to examine the relationship between polymorphism at the Apo E gene and the risk of coronary artery disease(CAD).Furthermore,the association of the polymorphism with the classical risk factors was analyzed.Methods103patients with angiographically verified CAD were evaluated.Data referring to hypertension,diabetes and tobacco consumption were recorded.The levels of total cholesterol,HDL cholesterol,Apo A1and B and triglycerides were determined.DNA was obtained from the103patients and from54controls.In order to determine the Apo E polymorphism,DNA was PCR amplified and digested with HhaI.The ge-netic polymorphism of Apo E is due to three common alleles,ε2,ε3,ε4,at a single autosomal gene locus.These alleles determine the six phenotypes E2/2,E3/3,E4/4,E4/2,E4/3,and E3/2.Results In Uygur population,the frequency of theε2,ε3andε4are0.221±0.373,0.647±0.380and0.132±0.224respectively.In Han population,the frequency of theε2,ε3andε4are0.081±0.196,0.772±0.315and0.146±0.237respectively.In the patient group,the frequency of theε2,ε3andε4are0.073±0.215,0.777±0.311and0.151±0.241respectively.In the control group,the frequency of theε2,ε3andε4are0.185±0.296,0.685±0.367and0.130±0.221respectively.ε2frequency of Uygur'patient and control are0.105±0.315and0.367±0.296 respectively.Serum LDL cholesterol,TC and TG values tended to decrease from the Apo E-4phenotypes to Apo E-2phenotypes.Deletion polymorphism ofε2compared with common risk factors for CAD,its risk ratio(RR)is3.45.Conclusions These studies confirm and extend that the Apo E phenotype distribution in Uygur population differed significantly from Han population in Xinjiang.CAD patients have significantly lowerε2allele and slightly higherε3orε4allele frequency than controls especially in Uygur population.Deletion ofε2may be a risk factor for CAD.
出处 《中国微循环》 2004年第1期21-25,共5页 Journal of Chinese Microcirculation
关键词 载脂蛋白E DNA多态性 危险因子 冠心病 Apolipoprotein E DNA polymorphisms Risk factors Coronary artery disease
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