Pérez-Tur J, Campion D, Martinez M, Brice A, Tardieu S, Hannequin D, Agid Y, Delacourte A, Clerget-Darpoux F, Chartier-Harlin M C
Unité 422 INSERM, Lille, France.
Am J Med Genet. 1995 Dec 18;60(6):550-3. doi: 10.1002/ajmg.1320600613.
Recently several reports have extended the apolipoprotein E (APOE) epsilon 4 association found in late-onset Alzheimer's disease (LOAD) patients to early-onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset < or = 60 years) in which family history was carefully assessed and in 109 controls. We show that the APOE epsilon 4 allele frequency is increased only in the subset of patients who belong to families where LOAD secondary cases are present. Our sampling scheme permits us to demonstrate that for an individual, bearing at least one epsilon 4 allele increases both the risk of AD before age 60 and the probability of belonging to a family with late-onset affected subjects. Our results suggest that a subset of EOAD cases shares a common determinism with LOAD cases.
最近有几份报告将在晚发性阿尔茨海默病（LOAD）患者中发现的载脂蛋白E（APOE）ε4关联扩展到早发性（EO）AD患者。我们在119例早发性阿尔茨海默病患者（发病年龄≤60岁）的大群体中研究了这个问题，这些患者的家族史经过了仔细评估，同时还研究了109名对照者。我们发现，APOE ε4等位基因频率仅在那些有LOAD继发性病例的家族中的患者亚组中增加。我们的抽样方案使我们能够证明，对于个体而言，携带至少一个ε4等位基因会增加60岁之前患AD的风险以及属于有晚发性患病个体的家族的概率。我们的结果表明，一部分早发性阿尔茨海默病病例与晚发性阿尔茨海默病病例具有共同的决定因素。
