Lehtimäki T, Pirttilä T, Mehta P D, Wisniewski H M, Frey H, Nikkari T
Department of Biomedical Sciences, University of Tampere, Finland.
Hum Genet. 1995 Jan;95(1):39-42. doi: 10.1007/BF00225071.
The apoE phenotype of 83 patients with probable Alzheimer's disease (AD) and of 164 non-demented controls was determined by isoelectric focusing and Western blotting. The proportion of the epsilon 4 allele was 0.548 in AD and 0.202 in controls (P < 0.0001). The effect was seen in both early-onset and late-onset AD patients. The risk of AD in epsilon 4 homozygotes was 18-fold greater than in individuals without the epsilon 4 allele. ApoE concentrations were measured in serum and cerebrospinal fluid (CSF) from a subgroup of patients with AD (n = 72) and controls (n = 84) by a sandwich enzyme-linked immunosorbent assay. Although serum apoE concentrations were lower in individuals with the epsilon 4 allele than in those without the epsilon 4 allele, CSF apoE concentrations did not vary in different phenotype groups. However, CSF apoE levels were lower in AD patients than in controls. We conclude that the inheritance of the epsilon 4 allele of apoE is a risk factor for AD in the Finnish population.
采用等电聚焦和蛋白质印迹法测定了83例可能患有阿尔茨海默病（AD）的患者以及164例非痴呆对照者的载脂蛋白E（apoE）表型。ε4等位基因在AD患者中的比例为0.548，在对照者中为0.202（P<0.0001）。在早发型和晚发型AD患者中均观察到了这种效应。ε4纯合子患AD的风险比没有ε4等位基因的个体高18倍。通过夹心酶联免疫吸附测定法，对一组AD患者（n = 72）和对照者（n = 84）的血清和脑脊液（CSF）中的apoE浓度进行了测量。尽管携带ε4等位基因的个体血清apoE浓度低于不携带ε4等位基因的个体，但不同表型组的脑脊液apoE浓度并无差异。然而，AD患者的脑脊液apoE水平低于对照者。我们得出结论，apoE的ε4等位基因遗传是芬兰人群患AD的一个风险因素。
