Roses A D, Saunders A M, Corder E H, Pericak-Vance M A, Han S H, Einstein G, Hulette C, Schmechel D E, Holsti M, Huang D
Joseph and Kathleen Bryan Alzheimer's Disease Research Center, Duke University Medical Center, Durham, NC, USA.
Arzneimittelforschung. 1995 Mar;45(3A):413-7.
Apolipoprotein E-epsilon 4 (APOE4, gene; apoE4, protein) is a susceptibility gene or risk factor for Alzheimer's disease. The genetic relevance of APOE4 has been widely confirmed. The APOE gene is not a disease locus, with specific mutations causing Alzheimer disease. Allelic variations at the APOE locus affect the rate of disease progression. The association of specific inherited APOE alleles with age of onset distributions describes biological effects based on genotype. The inheritance of polymorphic genes with single amino acid differences between apoE4 and apoE3 (and between apoE3 and apoE2) at the protein level is associated with differences in the mean age of disease onset spanning almost two decades. The isoform-specific metabolism of apoE resulting in a faster rate of disease expression can now be studied with the expectation that genetically relevant processes are being investigated. There is now an opportunity to develop theories directed at the genetically relevant apoE metabolism that can significantly delay disease expression.
载脂蛋白E-ε4（APOE4，基因；apoE4，蛋白质）是阿尔茨海默病的一个易感基因或风险因素。APOE4的遗传相关性已得到广泛证实。APOE基因不是一个疾病位点，特定突变会导致阿尔茨海默病。APOE位点的等位基因变异会影响疾病进展速度。特定遗传的APOE等位基因与发病年龄分布的关联描述了基于基因型的生物学效应。在蛋白质水平上，apoE4与apoE3（以及apoE3与apoE2）之间存在单氨基酸差异的多态基因的遗传与疾病发病平均年龄相差近二十年的差异有关。现在可以研究导致疾病表达速度更快的apoE的异构体特异性代谢，期望正在研究与遗传相关的过程。现在有机会针对与遗传相关的apoE代谢开发理论，从而显著延迟疾病表达。
