Lambert J C, Pérez-Tur J, Dupire M J, Delacourte A, Frigard B, Chartier-Harlin M C
INSERM U422, Faculté de Médicine, Lille, France.
Neurosci Lett. 1996 Dec 6;220(1):57-60. doi: 10.1016/s0304-3940(96)13244-4.
Down's syndrome (DS) patients develop the characteristic features of Alzheimer's disease (AD) by their fourth decade, some of them exhibiting an AD-type dementia. We studied the apolipoprotein E (APOE) allele distribution in a population of 41 DS patients comprising 19.5% of demented, compared to 35 control subjects. No statistical difference was observed, but the epsilon2 allele may delay the age of dementia. As described in other studies, the impact of the different APOE alleles in DS is modest. However the compilation of all published studies on AD-type dementia in DS suggests that the epsilon2 allele has a protective effect. In delaying the age of onset, the epsilon2 allele would have a similar action in AD-type dementia in DS and in AD families with amyloid precursor protein (APP) mutations.
唐氏综合征（DS）患者在40岁左右会出现阿尔茨海默病（AD）的特征性表现，其中一些人会出现AD型痴呆。我们研究了41名DS患者群体中的载脂蛋白E（APOE）等位基因分布情况，这些患者中有19.5%患有痴呆症，同时研究了35名对照受试者。未观察到统计学差异，但ε2等位基因可能会延迟痴呆症发病年龄。正如其他研究中所描述的，不同APOE等位基因对DS的影响较小。然而，对所有已发表的关于DS中AD型痴呆的研究进行汇总分析表明，ε2等位基因具有保护作用。在延迟发病年龄方面，ε2等位基因在DS的AD型痴呆以及携带淀粉样前体蛋白（APP）突变的AD家族中可能具有类似作用。
