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载脂蛋白E基因多态性与中国新疆维吾尔族和汉族人群冠状动脉疾病风险

Apolipoprotein E gene polymorphisms and risk for coronary artery disease in Chinese Xinjiang Uygur and Han population.

作者信息

Yang Sheng-Li, He Bing-Xian, Liu Hui-Liang, He Zuo-Yun, Zhang Hua, Luo Jian-Ping, Hong Xiu-Fang, Zou Yang-Chun

机构信息

Department of Cardiology, General Hospital of Chinese People's Armed Police Forces, Beijing 100039.

出版信息

Chin Med Sci J. 2004 Jun;19(2):150-4.

Abstract

OBJECTIVE

To examine the relationship between apolipoprotein E (Apo E) gene polymorphism and risk of coronary artery disease (CAD), analyzing association of polymorphism with classical risk factors.

METHODS

A total of 124 patients (including 84 Han population and 40 Uygur population) with angiographically verified CAD or myocardial infarction were prospectively evaluated. Data referring to hypertension, diabetes, and tobacco consumption were recorded. The levels of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, Apo A1 and B, and triglycerides (TG) were determined. DNA was obtained from 124 patients and 70 controls. In order to determine Apo E genotypes, DNA was PCR amplified and digested with HhaI. The genetic polymorphism of Apo E is due to three common alleles, epsilon (epsilon) 2, epsilon3, epsilon4, 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 the epsilon2, epsilon3, and epsilon4 was 0.155, 0.648, and 0.197 respectively. In Han population, the frequency of the epsilon2, epsilon3, and epsilon4 was 0.081, 0.772, and 0.146 respectively. In the patient group, the frequency of the epsilon2, epsilon3, and epsilon4 was 0.060, 0.758, and 0.182 respectively. In the control group, the frequency of the epsilon2, epsilon3, and epsilon4 was 0.193, 0.671, and 0.136 respectively. epsilon2 frequency of Uygur' patients and controls was 0.050 and 0.290 respectively. Serum low density lipoprotein (LDL) cholesterol, TC, and TG values tended to decrease from the Apo E-4 phenotypes to Apo E-2 phenotypes. When deletion polymorphism of epsilon2 was compared with the common risk factors for CAD, its risk ratio (RR) is 4.38.

CONCLUSIONS

These studies confirm and find that Apo E phenotype distribution in Uygur population differs significantly from that in Han population in Xinjiang. CAD patients have significantly lower epsilon2 allele and slightly higher epsilon3 or epsilon4 allele frequency than controls, especially in Uygur population. It shows protective effects of epsilon2 on CAD.

摘要

目的

研究载脂蛋白E(Apo E)基因多态性与冠状动脉疾病(CAD)风险之间的关系,分析该多态性与经典风险因素的相关性。

方法

前瞻性评估了124例经血管造影证实患有CAD或心肌梗死的患者(包括84例汉族和40例维吾尔族)。记录了有关高血压、糖尿病和吸烟的数据。测定了总胆固醇(TC)、高密度脂蛋白(HDL)胆固醇、Apo A1和B以及甘油三酯(TG)的水平。从124例患者和70例对照中获取DNA。为了确定Apo E基因型,对DNA进行PCR扩增并用HhaI酶切。Apo E的基因多态性是由一个常染色体基因位点上的三个常见等位基因,即ε2、ε3、ε4决定的。这些等位基因决定了六种表型E2/2、E3/3、E4/4、E4/2、E4/3和E3/2。

结果

在维吾尔族人群中,ε2、ε3和ε4的频率分别为0.155、0.648和0.197。在汉族人群中,ε2、ε3和ε4的频率分别为0.081、0.772和0.146。在患者组中,ε2、ε3和ε4的频率分别为0.060、0.758和0.182。在对照组中,ε2、ε(3)和ε4的频率分别为0.193、0.671和0.136。维吾尔族患者和对照组的ε2频率分别为0.050和0.290。血清低密度脂蛋白(LDL)胆固醇、TC和TG值倾向于从Apo E-4表型到Apo E-2表型逐渐降低。当将ε2的缺失多态性与CAD的常见风险因素进行比较时,其风险比(RR)为4.38。

结论

这些研究证实并发现,新疆维吾尔族人群中Apo E表型分布与汉族人群有显著差异。CAD患者的ε2等位基因频率明显低于对照组,ε3或ε4等位基因频率略高于对照组,尤其是在维吾尔族人群中。这表明ε2对CAD有保护作用。

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