Doody R S, Azher S N, Haykal H A, Dunn J K, Liao T, Schneider L
Department of Neurology and Alzheimer's Disease Research Center, Baylor College of Medicine, 6550 Fannin Suite, 1801 Houston, TX 77030, USA.
J Neurol Neurosurg Psychiatry. 2000 Nov;69(5):668-71. doi: 10.1136/jnnp.69.5.668.
To assess the relation between APO E genotype and MRI white matter changes in Alzheimer's disease. The APO epsilon4 allele is correlated with amyloid angiopathy and other neuropathologies in Alzheimer's disease and could be associated with white matter changes. If so, there should be a dose effect.
104 patients with probable Alzheimer's disease (NINCDS-ADRDA criteria) in this Alzheimer's Disease Research Centre were studied. Patients received MRI and APO E genotyping by standardised protocols. Axial MRI was scored (modified Schelten's scale) for the presence and degree of white matter changes and atrophy in several regions by a neuroradiologist blinded to genotype. Total white matter and total atrophy scores were also generated. Data analysis included Pearson's correlation for regional and total imaging scores and analysis of variance (ANOVA) (or Kruskal-Wallis) and chi(2) for demographic and disease related variables.
30 patients had no epsilon4, 53 patients were heterozygous, and 21 patients were homozygous. The three groups did not differ in sex distribution, age of onset, age at MRI, MMSE, clinical dementia rating, or modified Hachinski ischaemia scores. There were no significant correlations between total or regional white matter scores and APO E genotype (Pearson correlation).
No correlation between total or regional white matter scores and APO E genotype was found. The pathogenesis of white matter changes in Alzheimer's disease may be independent of APO E genotype.
评估载脂蛋白E（APO E）基因型与阿尔茨海默病患者磁共振成像（MRI）白质改变之间的关系。APOε4等位基因与阿尔茨海默病中的淀粉样血管病及其他神经病理学改变相关，可能与白质改变有关。如果是这样，应该存在剂量效应。
对该阿尔茨海默病研究中心的104例可能患有阿尔茨海默病（符合美国国立神经病学、语言障碍和卒中研究所-阿尔茨海默病及相关疾病协会（NINCDS-ADRDA）标准）的患者进行研究。患者按照标准化方案接受MRI检查和APO E基因分型。由一位对基因型不知情的神经放射科医生根据改良的谢尔滕量表对轴位MRI进行评分，以确定几个区域白质改变和萎缩的存在情况及程度。还得出了总白质和总萎缩评分。数据分析包括对区域和总体成像评分进行Pearson相关性分析，以及对人口统计学和疾病相关变量进行方差分析（ANOVA）（或Kruskal-Wallis检验）和卡方检验。
30例患者无ε4，53例为杂合子，21例为纯合子。三组在性别分布、发病年龄、MRI检查时的年龄、简易精神状态检查表（MMSE）、临床痴呆评定量表或改良的哈金斯基缺血量表评分方面无差异。总白质或区域白质评分与APO E基因型之间无显著相关性（Pearson相关性分析）。
未发现总白质或区域白质评分与APO E基因型之间存在相关性。阿尔茨海默病中白质改变的发病机制可能独立于APO E基因型。
