Srinivasan S R, Ehnholm C, Wattigney W, Berenson G S
Department of Medicine, Louisiana State University Medical Center, New Orleans 70112.
Metabolism. 1993 Mar;42(3):381-6. doi: 10.1016/0026-0495(93)90091-2.
The structural gene locus for apolipoprotein E (apo E) is polymorphic. The relative apo E allele frequencies and the influence of this polymorphism on serum lipoprotein concentrations were studied in 8- to 17-year-old black (n = 444) and white (n = 446) children from the community of Bogalusa, LA. The frequencies of the e2, e3, and e4 alleles for white males/females were 0.027/0.024, 0.849/0.823, and 0.124/0.153, respectively; corresponding values for black males/females were 0.087/0.074, 0.713/0.721, and 0.20/0.205, respectively. Apo E phenotype distributions and allele frequencies showed a significant race difference, but no sex difference. Significant differences among apo E phenotypes were noted for total cholesterol, low-density lipoprotein cholesterol (LDL-C), and apo B in both races; significant effects were noted for high-density lipoprotein cholesterol (HDL-C) and apo A-I in black children, but not in white children. Among white children, the average excess of the apo e2 allele showed lower LDL-C (-12.5 mg/dL) and apo B (-15.8 mg/dL) concentrations, while the average excess of the apo e4 allele showed higher LDL-C (7.0 mg/dL) and apo B (7.5 mg/dL) concentrations. Black children showed a similar trend for these variables, but to a lesser degree; in addition, the average excess of apo e2 allele showed higher HDL-C (12.8 mg/dL) and apo A-I (8.3 mg/dL) concentrations in this racial group. It is noteworthy that the association of apo E polymorphism with serum lipoprotein concentrations noted in adults can be seen already in children.
载脂蛋白E(apo E)的结构基因位点具有多态性。在路易斯安那州博加卢萨社区8至17岁的黑人儿童(n = 444)和白人儿童(n = 446)中,研究了apo E相对等位基因频率以及这种多态性对血清脂蛋白浓度的影响。白人男性/女性中e2、e3和e4等位基因的频率分别为0.027/0.024、0.849/0.823和0.124/0.153;黑人男性/女性的相应值分别为0.087/0.074、0.713/0.721和0.20/0.205。apo E表型分布和等位基因频率存在显著的种族差异,但无性别差异。在两个种族中,apo E表型之间的总胆固醇、低密度脂蛋白胆固醇(LDL-C)和apo B存在显著差异;黑人儿童的高密度脂蛋白胆固醇(HDL-C)和apo A-I有显著影响,而白人儿童则没有。在白人儿童中,apo e2等位基因的平均过量表现为较低的LDL-C(-12.5 mg/dL)和apo B(-15.8 mg/dL)浓度,而apo e4等位基因的平均过量表现为较高的LDL-C(7.0 mg/dL)和apo B(7.5 mg/dL)浓度。黑人儿童在这些变量上呈现类似趋势,但程度较小;此外,在该种族群体中,apo e2等位基因的平均过量表现为较高的HDL-C(12.8 mg/dL)和apo A-I(8.3 mg/dL)浓度。值得注意的是,在成年人中发现的apo E多态性与血清脂蛋白浓度之间的关联在儿童中已经可以观察到。