Borinskaia S A, Kal'ina N R, Sanina E D, Kozhekbaeva Zh M, Gupalo E Iu, Garmash I V, Ogurtsov P P, Parshukova O N, Boĭko S G, Veselovskiĭ E M, Vershubskaia G G, Kozlov A I, Rogaev E I, Iankovskiĭ N K
Genetika. 2007 Oct;43(10):1434-40.
Allele and genotype frequencies for the locus encoding apolipoprotein E, involved in the regulation of lipid metabolism (APOE), were evaluated in 16 populations representing 12 ethnic groups (a total of 1103 subjects) from Russia and neighboring countries. In the populations examined, the frequencies of allele epsilon4, which is the risk factor of Alzheimer's disease and coronary heart disease, varied from less than 5 to more than 20%, while the variation of the major epsilon3 allele in these populations ranged from less than 75 to 95%. The frequencies of alleles epsilon3 and epsilon4 were 0.714 and 0.205 in Saami, 0.734 and 0.149 in Maris, 0.841 and 0.122 in Evenks, 0.788 and 0.163 in Buryats, 0.764 and 0.202 in Chukchi, 0.875 and 0.075 in Iranians, 0.956 and 0.044 in mountain-dwellers of the Pamirs, 0.771 and 0.094 in Ukrainians, and 0.795 and 0.091 in Belarussians, respectively. In Russians from different regions of the country, the frequencies of these alleles were 0.728 and 0.139 (Kostroma), 0.795 and 0.105 (Moscow), 0.857 and 0.092 (Rostov-on-Don), and 0.824 and 0.083 (Krasnodar), respectively. The latitudinal distribution of the APOE epsilon3 and epsilon4 allele frequencies in the populations examined was comparable to the frequency distribution pattern of these alleles in other populations of Eurasia.
对参与脂质代谢调节的载脂蛋白E(APOE)编码基因座的等位基因和基因型频率,在来自俄罗斯及周边国家的代表12个民族的16个人群(共1103名受试者)中进行了评估。在所研究的人群中,作为阿尔茨海默病和冠心病危险因素的ε4等位基因频率在5%以下至20%以上之间变化,而这些人群中主要的ε3等位基因频率变化范围在75%以下至95%之间。ε3和ε4等位基因频率在萨米人中分别为0.714和0.205,在马里人中为0.734和0.149,在埃文基人中为0.841和0.122,在布里亚特人中为0.788和0.163,在楚科奇人中为0.764和0.202,在伊朗人中为0.875和0.075,在帕米尔山区居民中为0.956和0.044,在乌克兰人中为0.771和0.094,在白俄罗斯人中为0.795和0.091。在俄罗斯不同地区的俄罗斯人中,这些等位基因频率分别为0.728和0.139(科斯特罗马)、0.795和0.105(莫斯科)、0.857和0.092(顿河畔罗斯托夫)以及0.824和0.083(克拉斯诺达尔)。在所研究人群中APOE ε3和ε4等位基因频率的纬度分布与欧亚大陆其他人群中这些等位基因的频率分布模式相当。