Cauley J A, Eichner J E, Kamboh M I, Ferrell R E, Kuller L H
Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pennsylvania 15261.
Genet Epidemiol. 1993;10(1):27-34. doi: 10.1002/gepi.1370100104.
Allelic variation at the apolipoprotein E (Apo E) structural locus has been shown to influence concentrations of total cholesterol and low density lipoprotein cholesterol (LDL-C). Apo E has six phenotypes resulting from three common alleles at this locus. The epsilon 2 allele is associated with lower LDL-C and the epsilon 4 allele with higher LDL-C. In the current study, we compared the epsilon allele distribution in two cohorts of white women recruited from population based listing of southwestern Pennsylvania. The "younger" cohort consisted of 473 women, age 42-50; the "older" cohort, 870 women, age 65-90. A comparison of the overall distribution of allele frequencies in the two cohorts was significantly different. The allele frequency of epsilon 4 was lower in the older cohort (0.098 vs. 0.122, P = 0.08) and the epsilon 2 allele frequency was higher (0.084 vs. 0.059, P = 0.05) in the older cohort. These observations are consistent with the hypothesis that there may be a selection against individuals with the epsilon 4 allele. However, future research is needed to confirm this observation and to compare survival in individuals by their epsilon allele.
载脂蛋白E（Apo E）结构位点的等位基因变异已被证明会影响总胆固醇和低密度脂蛋白胆固醇（LDL-C）的浓度。该位点的三个常见等位基因产生了六种Apo E表型。ε2等位基因与较低的LDL-C相关，而ε4等位基因与较高的LDL-C相关。在本研究中，我们比较了从宾夕法尼亚州西南部人群名单中招募的两组白人女性的ε等位基因分布。“年轻”组由473名年龄在42至50岁之间的女性组成；“年长”组由870名年龄在65至90岁之间的女性组成。两组等位基因频率的总体分布比较有显著差异。年长组中ε4的等位基因频率较低（0.098对0.122，P = 0.08），而ε2等位基因频率较高（0.084对0.059，P = 0.05）。这些观察结果与可能存在针对携带ε4等位基因个体的选择这一假设一致。然而，需要进一步的研究来证实这一观察结果，并比较不同ε等位基因个体的生存率。
