Bétard C, Robitaille Y, Gee M, Tiberghien D, Larrivée D, Roy P, Mortimer J A, Gauvreau D
Centre de Recherche, Centre hospitalier Côte-des-Neiges, University of Montreal, Québec, Canada.
Neuroreport. 1994 Oct 3;5(15):1893-6. doi: 10.1097/00001756-199410000-00013.
Apolipoprotein (Apo E) was genotyped using a fluorescent PCR-RFLP assay in 187 patients with a probable or possible clinical diagnosis of sporadic Alzheimer's disease (AD) and in 166 autopsied patients with dementia (21 presenile AD, 70 senile AD, 18 Lewy body dementia (LBD), 38 AD with cerebrovascular disease (AD-CVD), 19 vascular dementia). The relative epsilon 4 allele frequency was 0.472 in LBD, 0.513 in AD-CVD, 0.405 in presenile AD, 0.364 in senile AD, and 0.079 in vascular dementia. The relative epsilon 2 allele frequency was 0.211 in vascular dementia, 0.083 in LBD, 0.047 in presenile AD, 0.100 in senile AD and 0.039 in AD with CVD. We infer that apo E is a major risk factor for structural phenotypes of dementia involving AD, alone or in conjunction with another pathology. In addition, the epsilon 2 allele is likely to represent a risk factor for vascular morbidity, as the relative epsilon 2 allele frequency was 0.211 in patients with vascular dementia compared with 0.144 in elderly controls.
采用荧光聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对187例临床诊断为可能或疑似散发性阿尔茨海默病(AD)的患者以及166例尸检痴呆患者(21例早老性AD、70例老年性AD、18例路易体痴呆(LBD)、38例伴有脑血管病的AD(AD-CVD)、19例血管性痴呆)进行载脂蛋白(Apo E)基因分型。ε4等位基因相对频率在LBD中为0.472,在AD-CVD中为0.513,在早老性AD中为0.405,在老年性AD中为0.364,在血管性痴呆中为0.079。ε2等位基因相对频率在血管性痴呆中为0.211,在LBD中为0.083,在早老性AD中为0.047,在老年性AD中为0.100,在伴有CVD的AD中为0.039。我们推断,载脂蛋白E是涉及AD的痴呆结构表型的主要危险因素,单独或与其他病理情况共同作用。此外,ε2等位基因可能是血管发病的危险因素,因为血管性痴呆患者中ε2等位基因相对频率为0.211,而老年对照组为0.144。