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人类载脂蛋白的遗传学研究。十、载脂蛋白E基因多态性对尼日利亚黑人脂蛋白定量水平的影响。

Genetic studies of human apolipoproteins. X. The effect of the apolipoprotein E polymorphism on quantitative levels of lipoproteins in Nigerian blacks.

作者信息

Sepehrnia B, Kamboh M I, Adams-Campbell L L, Bunker C H, Nwankwo M, Majumder P P, Ferrell R E

机构信息

Human Genetics Division, Graduate School of Public Health, University of Pittsburgh, PA 15261.

出版信息

Am J Hum Genet. 1989 Oct;45(4):586-91.

Abstract

Human apolipoprotein E exhibits genetic polymorphism in all populations examined to date. By isoelectric focusing and immunoblotting, three common alleles have been demonstrated in 365 unrelated Nigerian blacks. Furthermore, the APO E genetic polymorphism's effect on quantitative levels of lipids and lipoproteins has been determined. The respective frequencies of the APO E2, APO E3, and APO E4 alleles are .027, .677, and .296. The effect of APO E polymorphism is significant only on total cholesterol and low-density lipoprotein cholesterol. The average excesses of the APO E2 allele are to lower total cholesterol and low-density lipoprotein cholesterol by 9.19 mg/dl and 11.11 mg/dl, respectively. The average excesses of the APO E*4 allele are to increase total cholesterol and low-density lipoprotein cholesterol by 5.64 mg/dl and 6.18 mg/dl, respectively. On the basis of the differences in (a) the distribution of APO E allele frequencies between the Nigerians and other populations and (b) dietary lipids, we propose a model that shows that lipid metabolism is influenced by the combined effects of the APO E polymorphism and environmental factors.

摘要

在迄今为止所有被检测的人群中,人类载脂蛋白E都呈现出基因多态性。通过等电聚焦和免疫印迹法,在365名无亲缘关系的尼日利亚黑人中已证实存在三种常见的等位基因。此外,还确定了APO E基因多态性对脂质和脂蛋白定量水平的影响。APO E2、APO E3和APO E4等位基因的各自频率分别为0.027、0.677和0.296。APO E多态性的影响仅对总胆固醇和低密度脂蛋白胆固醇有显著意义。APO E2等位基因的平均过量分别使总胆固醇和低密度脂蛋白胆固醇降低9.19mg/dl和11.11mg/dl。APO E*4等位基因的平均过量分别使总胆固醇和低密度脂蛋白胆固醇增加5.64mg/dl和6.18mg/dl。基于(a)尼日利亚人与其他人群之间APO E等位基因频率分布的差异以及(b)膳食脂质,我们提出了一个模型,该模型表明脂质代谢受APO E多态性和环境因素的联合作用影响。

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