Demarchi Darío A, Salzano Francisco M, Altuna M Eugenia, Fiegenbaum Marilu, Hill K, Hurtado A M, Tsunetto Luiza T, Petzl-Erler M L, Hutz Mara H
Museo de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba, Argentina.
Ann Hum Biol. 2005 May-Jun;32(3):351-65. doi: 10.1080/03014460500097237.
Apolipoprotein E (apoE, protein; APOE, gene) plays a central role in lipid metabolism. Three common alleles, E2, E3 and E*4 have quantitative effects on lipid and lipoproteins levels, which are major risk determinants of cardiovascular diseases in several populations. Given their clinical significance, it is of interest to know the distribution of APOE variants in populations from diverse ethnic groups, as well as to determine if this polymorphism presents variations that might be associated with given evolutionary factors.
We report the distribution of APOE polymorphisms in Native American populations from South America, comparing it with other native populations of the Americas and Siberia.
The sample consisted of 315 individuals from nine Native American populations living at subtropical latitudes of Argentina, Brazil and Paraguay. The extended analysis included 50 populations across South and North America, Greenland and Siberia. The geographic patterns of the variation were investigated through correlation analysis, spatial autocorrelation and analysis molecular of variance (AMOVA).
The incidence of the most common allele (APOE3) in the sample analysed ranged from 0.78 to 0.98. The second allele in prevalence, APOE4, varied from 0.00 to 0.17. The rare allele APOE2 was found in five of the nine populations investigated. This variant was found in a male with both maternal and paternal Native American lineages, suggesting that this allele is present in Native Americans and hence should not be used as an indicator of admixture. APOE3 and APOE4 present, respectively, positive and negative associations with latitude, although the pattern is much more pronounced in the Northern Hemisphere than in South America. APOE2 increases its frequency with latitude but this pattern is statistically significant only in South America.
The overall APOE spatial pattern seems, in general, compatible with a directional demographic expansion which occurred in north-eastern Asia and much of the New World. The APOE*2 allele shows this pattern in South America but a random distribution in the Northern Hemisphere, suggesting that the possibility of selection should not be discarded.
载脂蛋白E（载脂蛋白E，蛋白质；APOE，基因）在脂质代谢中起核心作用。三个常见等位基因，E2、E3和E*4对脂质和脂蛋白水平有定量影响，而脂质和脂蛋白水平是多个人群中心血管疾病的主要风险决定因素。鉴于其临床意义，了解不同种族人群中APOE变异体的分布，以及确定这种多态性是否存在可能与特定进化因素相关的变异，是很有意义的。
我们报告了南美洲美洲原住民人群中APOE多态性的分布情况，并将其与美洲和西伯利亚的其他原住民人群进行比较。
样本包括来自阿根廷、巴西和巴拉圭亚热带地区九个美洲原住民人群的315名个体。扩展分析包括南北美洲、格陵兰岛和西伯利亚的50个人群。通过相关分析、空间自相关分析和方差分析（AMOVA）研究变异的地理模式。
在所分析的样本中，最常见等位基因（APOE3）的发生率在0.78至0.98之间。第二常见的等位基因APOE4，其发生率在0.00至0.17之间。在所调查的九个群体中的五个群体中发现了罕见等位基因APOE2。在一名父母双方均为美洲原住民血统的男性中发现了这种变异，这表明该等位基因存在于美洲原住民中，因此不应将其用作混合血统的指标。APOE3和APOE4分别与纬度呈正相关和负相关，尽管这种模式在北半球比在南美洲更为明显。APOE2的频率随纬度增加，但这种模式仅在南美洲具有统计学意义。
总体而言，APOE的空间模式似乎与发生在亚洲东北部和新大陆大部分地区的定向人口扩张相一致。APOE*2等位基因在南美洲呈现这种模式，但在北半球呈随机分布，这表明不应排除选择的可能性。
