新疆维汉两民族冠心病患者载脂蛋白E基因的多态性

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,用聚合酶链反应-限制片长多态性方法对新疆乌鲁木齐地区维汉两民族124例冠心病患者和70例对照组人群进行载脂蛋白E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)维吾尔族中载脂蛋白E ε2、ε3 和ε4等位基因频率分别为0.155±0.300、0.648±0.342 和 0.197±0.246, 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)载脂蛋白E ε2、ε3和ε4等位基因频率在冠心病组的分布分别为0.060±0.198、0.758±0.302 和 0.182±0.250, 与对照组(0.193±0.286、0.671±0.370 和 0.136±0.224)比较,ε2明显减低(P<0.01),维吾尔族中更明显(0.050±0.221对0.290±0.336,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、总胆固醇和甘油三酯逐渐升高.将等位基因与冠心病其它危险因子一起作Logistic回归分析发现,ε2缺失(危险比RR=4.38,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)维族和汉族人群中载脂蛋白E基因型分布有非常显著性差异(P<0.01);维族人群中ε2等位基因频率明显高于汉族.(2)冠心病患者载脂蛋白E ε2等位基因频率明显降低,其中维族更明显,ε3 和ε4 有所升高;从ε2到ε4,LDL、TG 和TC有升高趋势.(3)载脂蛋白E基因多态性(ε2等位基因缺失)为冠心病的危险因子之一,亦即ε2与冠心病呈负相关.

Apolipoprotein E Gene Polymorphisms and Risk for Coronary Artery Disease in Chinese Xinjiang Uygur and Han Population

Aim The study was designed to examine the relationship between polymorphism at the apolipoproteinlipoprotein E gene and the risk of coronary artery disease (CAD). Furthermore, the association of the polymorphism with the classical risk factors was analyzed.Methods A total of 124 patients with angiographically verified CAD or myocardial infarction were prospectively evaluated. Data referring to hypertension, diabetes and tobacco consumption were recorded. The plasma levels of total cholesterol, HDL cholesterol, apolipoproteinlipoprotein AI and B and triglycerides were determined. DNA was obtained from the 124 patients and from 70 controls. In order to determine the apolipoproteinlipoprotein E genotypes, DNA was PCR amplified and digested with HhaI.Results The frequency of the ε2, ε3 and ε4 are 0.155±0.300, 0.648±0.342, and 0.197±0.246 in Uygur population and 0.081±0.196, 0.772±0.315, and 0.146±0.237 in Han population respectively. The frequency of the ε2, ε3 and ε4 are 0.060±0.198, 0.758±0.302, and 0.182±0.250 in the patient group and 0.193±0.286, 0.671±0.370, and 0.136±0.224 in the control group respectively. ε2 frequency of Uygur' patient and control are 0.050±0.221 and 0.290±0.336. Serum LDL cholesterol, TC and TG values tended to decrease from the apolipoproteinlipoprotein E-4 phenotypes to apolipoprotein E-2 phenotypes. Deletion polymorphism of ε2 compared with common risk factors for CAD, its risk ratio (RR) is 4.38. Conclusion These studies showed that the apolipoprotein E phenotype distribution in Uygur population differed significantly from Han population in Xinjiang. CAD patients have significantly lower ε2 allele than controls especially in Uygur population. Deletion of ε2 may be a risk factor for CAD.(Chin J Arterioscler, 2003, 11(5): 0429-0434)