Svobodová H, Kucera F, Stulc T, Vrablík M, Amartuvshin B, Altannavch Ts, Ceska R
Third Medical Department, Charles University in Prague, 1st Faculty of Medicine, Prague, Czech Republic.
Folia Biol (Praha). 2007;53(4):138-42.
Apolipoprotein E plays a key role in the regulation of lipid metabolism. ApoE function is determined by the presence of three common alleles (epsilon2, epsilon3, epsilon4). The apo epsilon3 allele is the most prevalent, apo epsilon2 is associated with dysbetalipoproteinaemia, and apo epsilon4 is frequently associated with an increased risk for cardiovascular and Alzheimer's diseases. Mongolian population has a high rate of cardiovascular mortality and morbidity and there might be genetic susceptibility of the population to cardiovascular disease. The aim of our study was to establish the frequency of apoE genotypes in 744 Mongolian subjects and to compare the results with findings from other Asian populations. The apo E sequence was amplified using polymerase chain reaction and apo E genotyping was performed by restriction enzyme cleavage with CfoI. The relative apoE allele frequencies were epsilon2 = 3.7%, epsilon3 = 80.8%, and epsilon4 = 15.5%, the genotype frequencies were epsilon2/epsilon2 = 0% (N = 0), epsilon2/epsilon3 = 5.7% (N = 42), epsilon2/epsilon4 = 1.7% (N = 13), epsilon3/epsilon3 = 65.3% (N = 486), epsilon3/epsilon4 = 25.4% (N = 189), epsilon4/epsilon4 = 1.9% (N = 14); the occurrence of the risk epsilon4 allele in Mongolia is among the highest in Asia. The high frequency of the apo epsilon4 allele may increase the susceptibility of Mongolian population to cardiovascular diseases.
载脂蛋白E在脂质代谢调节中起关键作用。载脂蛋白E的功能由三个常见等位基因（ε2、ε3、ε4）决定。载脂蛋白ε3等位基因最为普遍，载脂蛋白ε2与异常β脂蛋白血症相关，而载脂蛋白ε4常与心血管疾病和阿尔茨海默病风险增加有关。蒙古族人群心血管疾病死亡率和发病率较高，该人群可能对心血管疾病存在遗传易感性。我们研究的目的是确定744名蒙古族受试者中载脂蛋白E基因型的频率，并将结果与其他亚洲人群的研究结果进行比较。使用聚合酶链反应扩增载脂蛋白E序列，并通过用CfoI进行限制性酶切来进行载脂蛋白E基因分型。相对载脂蛋白E等位基因频率为ε2 = 3.7%，ε3 = 80.8%，ε4 = 15.5%；基因型频率为ε2/ε2 = 0%（N = 0），ε2/ε3 = 5.7%（N = 42），ε2/ε4 = 1.7%（N = 13），ε3/ε3 = 65.3%（N = 486），ε3/ε4 = 25.4%（N = 189），ε4/ε4 = 1.9%（N = 14）；蒙古人群中风险等位基因ε4的出现率在亚洲是最高的之一。载脂蛋白ε4等位基因的高频率可能增加蒙古族人群对心血管疾病的易感性。
