Hanis C L, Hewett-Emmett D, Douglas T C, Bertin T K, Schull W J
Center for Demographic and Population Genetics, University of Texas Health Science Center, Houston 77225.
Arterioscler Thromb. 1991 Mar-Apr;11(2):362-70. doi: 10.1161/01.atv.11.2.362.
Genetic variability has been implicated as a significant contributor to the variation in levels of lipids, lipoproteins, and apolipoproteins (apos) through a variety of direct and indirect investigations. Among the direct investigations, apo E has been shown to be polymorphic and to explain a small but statistically significant proportion of the variability in cholesterol. The apo E polymorphism was typed in 964 randomly selected Mexican-Americans from Starr County, Tex., and its effects determined on levels of cholesterol, triglycerides, total high density lipoprotein (HDL) cholesterol, subfractions (HDL2 and HDL3), alpha- and beta-lipoprotein cholesterol, low density lipoprotein (LDL) cholesterol, and apos A-I, A-II, B, C-II, C-III, and E. Effects are reported for the entire sample and in each of three groups, namely, premenopausal females, postmenopausal women, and males. In the entire sample, significant effects were observed on cholesterol, beta-lipoprotein cholesterol, LDL, apo B, and apo E. There is evidence for significant physiological interaction of the apo E polymorphism effect in females by menopausal status. This is most evident for apo E levels, in which 5.9% of the variability in the entire sample is explained by the apo E polymorphism. In premenopausal females, however, the polymorphism accounts for 27.5% of the variability. In postmenopausal women and males, there is no significant effect. It is shown that the apo E polymorphism can be treated as a two-locus, two-allele system. Doing so identifies substitutions in amino acid position 158 as the mediators of most of the observed effects of this polymorphism.
通过各种直接和间接研究，遗传变异性被认为是导致脂质、脂蛋白和载脂蛋白（apo）水平变化的重要因素。在直接研究中，已表明载脂蛋白E具有多态性，并能解释胆固醇变异性中一小部分但具有统计学意义的比例。对来自得克萨斯州斯塔尔县的964名随机选择的墨西哥裔美国人进行了载脂蛋白E多态性分型，并确定了其对胆固醇、甘油三酯、总高密度脂蛋白（HDL）胆固醇、亚组分（HDL2和HDL3）、α和β脂蛋白胆固醇、低密度脂蛋白（LDL）胆固醇以及载脂蛋白A-I、A-II、B、C-II、C-III和E水平的影响。报告了整个样本以及绝经前女性、绝经后女性和男性这三组中每组的影响。在整个样本中，观察到对胆固醇、β脂蛋白胆固醇、LDL、载脂蛋白B和载脂蛋白E有显著影响。有证据表明，绝经状态会对女性载脂蛋白E多态性效应产生显著的生理相互作用。这在载脂蛋白E水平上最为明显，其中整个样本中5.9%的变异性可由载脂蛋白E多态性解释。然而，在绝经前女性中，该多态性占变异性的27.5%。在绝经后女性和男性中，没有显著影响。结果表明，载脂蛋白E多态性可被视为一个双位点、双等位基因系统。这样做可以确定氨基酸位置158处的替代是该多态性所观察到的大多数效应的介导因素。
