Saunders A M, Schmader K, Breitner J C, Benson M D, Brown W T, Goldfarb L, Goldgaber D, Manwaring M G, Szymanski M H, McCown N
Bryan Alzheimer's Disease Research Center, Division of Neurology, Duke University Medical Center, Durham, NC 27710.
Lancet. 1993 Sep 18;342(8873):710-1. doi: 10.1016/0140-6736(93)91709-u.
The frequency of the allele for apolipoprotein E type 4 (epsilon 4) is increased in late-onset familial and sporadic Alzheimer's disease (AD). We have examined epsilon 4 frequencies in four distinct, normal, elderly control groups and, most importantly, in patients with amyloid-forming diseases whose epsilon 4 distributions were not previously known (Creutzfeldt-Jakob disease, familial amyloidotic polyneuropathy, Down's syndrome). There were no differences between any of these controls and published control series, cementing the relevance of epsilon 4 for late-onset AD. The increase in late-onset AD was confirmed in two new series.
载脂蛋白E4（ε4）等位基因在晚发性家族性和散发性阿尔茨海默病（AD）中的频率升高。我们检测了四个不同的正常老年对照组中ε4的频率，最重要的是，检测了此前ε4分布情况未知的淀粉样蛋白形成疾病患者（克雅氏病、家族性淀粉样多神经病、唐氏综合征）中ε4的频率。这些对照组与已发表的对照系列之间没有差异，进一步证实了ε4与晚发性AD的相关性。在两个新的系列中也证实了晚发性AD中ε4频率的升高。
