Cariolou M A, Kokkofitou A, Manoli P, Christou S, Karagrigoriou A, Middleton L
Department of Molecular Genetics, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Genet Epidemiol. 1995;12(5):489-97. doi: 10.1002/gepi.1370120506.
Apolipoprotein E (APOE) plays an important role in the multifactorial etiology of both cardiovascular disease and Alzheimer's disease. Polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in 335 unrelated Greek Cypriots living on the island of Cyprus. For the most common APOE genotypes, the Greek Cypriots followed the general Caucasian European pattern of having higher genotypic frequencies of E3/3, followed by E3/4, and then E2/3. Among the European populations compared, Greek Cypriots exhibited the lowest relative frequency of the E3/4 genotype (12.83%). Also, the relative frequencies of the E2 and E4 alleles in Greek Cypriots were among the lowest around the world (5.4% and 7.0%, respectively). This was also demonstrated by using the complete and the average clustering methods of analysis where the APOE allele relative frequencies in Greek Cypriots were compared to 46 other populations. The Greek Cypriot population in these analyses clustered with populations mainly from south Europe and Japan which have low E2 and E4 allele frequencies. The Greek Cypriot population will be studied further for elucidating the effect(s) and the role of APOE in cardiovascular disease and the APOE4 allele as a possible metabolic factor affecting the rate of expression of both Alzheimer's disease and vascular dementia.
载脂蛋白E（APOE）在心血管疾病和阿尔茨海默病的多因素病因中起着重要作用。采用聚合酶链反应（PCR）对居住在塞浦路斯岛的335名无血缘关系的希腊塞浦路斯人进行APOE基因多态性研究。对于最常见的APOE基因型，希腊塞浦路斯人遵循欧洲白种人的一般模式，即E3/3基因型频率较高，其次是E3/4，然后是E2/3。在比较的欧洲人群中，希腊塞浦路斯人E3/4基因型的相对频率最低（12.83%）。此外，希腊塞浦路斯人E2和E4等位基因的相对频率在世界范围内也处于最低水平（分别为5.4%和7.0%）。通过使用完整聚类法和平均聚类法进行分析也证明了这一点，即将希腊塞浦路斯人的APOE等位基因相对频率与其他46个人群进行比较。在这些分析中，希腊塞浦路斯人群与主要来自南欧和日本的人群聚类在一起，这些人群的E2和E4等位基因频率较低。将对希腊塞浦路斯人群进行进一步研究，以阐明APOE在心血管疾病中的作用以及APOE4等位基因作为影响阿尔茨海默病和血管性痴呆发病率的可能代谢因素的作用。
