Kurz A, Lautenschlager N, Haupt M, Zimmer R, von Thülen B, Altland K, Lauter H, Müller U
Psychiatrische Klinik, Technischen Universität München.
Nervenarzt. 1994 Nov;65(11):774-9.
The apolipoprotein E genotype was determined in 50 patients with clinically diagnosed and prospectively confirmed Alzheimer's disease of mild to moderate severity and in 50 healthy age- and sex-matched controls. The frequency of the epsilon 4 allele was increased in the patients irrespective of the age at onset and of a possible familial transmission of the disease. It was associated with a relative risk of 2.97. In patients who experienced first symptoms after the age of 65 years there was an inverse correlation between the number of epsilon 4 alleles and age at onset. The results suggest that in the absence of amyloid precursor protein mutations and of a gene which has not yet been precisely localized on chromosome 14, apolipoprotein E is involved in the pathogenesis of Alzheimer's disease. It probably exerts its influence by an acceleration or retardation of amyloid formation and/or tau hyperphosphorylation.
对50例临床诊断且经前瞻性确认的轻至中度阿尔茨海默病患者以及50名年龄和性别匹配的健康对照者进行了载脂蛋白E基因型测定。无论发病年龄以及疾病是否可能存在家族性传播，患者中ε4等位基因的频率均有所增加。其相对风险为2.97。在65岁以后出现首发症状的患者中，ε4等位基因数量与发病年龄呈负相关。结果表明，在不存在淀粉样前体蛋白突变以及尚未在14号染色体上精确定位的基因的情况下，载脂蛋白E参与了阿尔茨海默病的发病机制。它可能通过加速或延缓淀粉样蛋白形成和/或tau蛋白过度磷酸化发挥作用。
