Department of Environmental Sciences, Bharathiar University, Coimbatore, India.
Indian J Med Res. 2010 Oct;132:363-78.
The role of apolipoprotein E (apo E) in lipid metabolism and cholesterol transport is well established. About 14 per cent of the variation in plasma cholesterol levels is attributed to polymorphisms in APO E gene (APO E). APO E consists of three common alleles, designated as ε2, ε3 and ε4 which code for E2, E3 and E4 proteins respectively resulting in three homozygous (E2/E2, E3/E3, E4/E4) and three heterozygous (E3/E2, E4/E2 and E4/E3) phenotypes. Different populations studied worldwide inherit variable frequencies of the APO E alleles and genotypes, with the most frequent allele being ε3.The ε4 allele has been consistently shown to be associated with Alzheimer's disease, coronary heart disease and cerebrovascular disorders. In this review, we have discussed the role of APO E polymorphisms in cerebrovascular and coronary heart diseases. The status of APO E polymorphisms and their disease associations in Asian Indians besides, other populations has also been discussed. Further, studies elucidating the pathophysiology of apo E deficiency conducted in knock-out mice have been reviewed.
载脂蛋白 E（apoE）在脂质代谢和胆固醇转运中的作用已得到充分证实。大约 14%的血浆胆固醇水平的变化归因于 APOE 基因（APOE）的多态性。APOE 由三个常见等位基因组成，分别命名为 ε2、ε3 和 ε4，分别编码 E2、E3 和 E4 蛋白，导致三种纯合子（E2/E2、E3/E3 和 E4/E4）和三种杂合子（E3/E2、E4/E2 和 E4/E3）表型。全世界不同的人群继承了不同频率的 APOE 等位基因和基因型，最常见的等位基因为 ε3。ε4 等位基因一直与阿尔茨海默病、冠心病和脑血管疾病有关。在这篇综述中，我们讨论了 APOE 多态性在脑血管病和冠心病中的作用。除了其他人群外，还讨论了 APOE 多态性在亚洲印第安人群体中的状况及其与疾病的关联。此外，还回顾了在敲除小鼠中进行的阐明 apoE 缺乏症病理生理学的研究。
