Kamboh M I, Evans R W, Aston C E
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA 15261, USA.
Atherosclerosis. 1995 Sep;117(1):73-81. doi: 10.1016/0021-9150(95)05559-f.
The distributions of plasma total cholesterol, apolipoproteins A-I and B and lipoprotein(a) levels as well as genetic typings of apolipoprotein(a) and apolipoprotein E were determined in a randomly selected sample of American Black women (mean age 22.2 +/- 6.5 years) . Mean plasma levels of cholesterol, apolipoprotein A-I, apolipoprotein B and lipoprotein(a) were 184.5 +/- 3.0 mg/dl, 138.0 +/- 3.1 mg/dl, 79.5 +/- 1.8 mg/dl and 24.5 +/- 1.5 mg/dl, respectively. Plasma lipoprotein (a) levels correlated significantly with apolipoprotein B and cholesterol. The contribution of apolipoprotein (a) and apolipoprotein E polymorphisms in affecting these quantitative traits was evaluated. The apolipoprotein(a) locus was extremely polymorphic with 27 alleles, while the 3 common alleles were observed in the apolipoprotein E gene. The frequencies of the APOE2, APOE and APOE*4 alleles were 0.094, 0.674 and 0.232, respectively. An inverse relationship was observed between the size of apolipoprotein(a) isoforms and lipoprotein(a) levels (r = 0.37; P = 0.0001). The apolipoprotein E polymorphism revealed a significant genotypic effect on apolipoprotein B (P = 0.0008) and cholesterol (P= 0.005) levels; these concentrations were lower in the APOE 2-3 genotype and higher in the 3-4 and 4-4 genotypes compared with the common 3-3 genotype. The apolipoprotein E polymorphism explained 15.8% and 6.3% of the phenotypic variance in apolipoprotein B and cholesterol levels, respectively. This study demonstrates that genetics play an important role in determining quantitative risk factors for coronary heart disease among American Black women.
在一个随机抽取的美国黑人女性样本（平均年龄22.2±6.5岁）中，测定了血浆总胆固醇、载脂蛋白A-I和B以及脂蛋白(a)水平的分布情况，以及载脂蛋白(a)和载脂蛋白E的基因分型。血浆胆固醇、载脂蛋白A-I、载脂蛋白B和脂蛋白(a)的平均水平分别为184.5±3.0mg/dl、138.0±3.1mg/dl、79.5±1.8mg/dl和24.5±1.5mg/dl。血浆脂蛋白(a)水平与载脂蛋白B和胆固醇显著相关。评估了载脂蛋白(a)和载脂蛋白E多态性对这些数量性状的影响。载脂蛋白(a)基因座具有极高的多态性，有27个等位基因，而在载脂蛋白E基因中观察到3个常见等位基因。APOE2、APOE和APOE*4等位基因的频率分别为0.094、0.674和0.232。观察到载脂蛋白(a)异构体大小与脂蛋白(a)水平之间呈负相关（r = 0.37；P = 0.0001）。载脂蛋白E多态性显示对载脂蛋白B（P = 0.0008）和胆固醇（P = 0.005）水平有显著的基因型效应；与常见的3-3基因型相比，APOE 2-3基因型的这些浓度较低，3-4和4-4基因型的浓度较高。载脂蛋白E多态性分别解释了载脂蛋白B和胆固醇水平表型变异的15.8%和6.3%。这项研究表明，遗传学在决定美国黑人女性冠心病的数量风险因素中起着重要作用。
