Department of Neuropsychiatry, Sapporo Medical University School of Medicine, Sapporo, Japan.
PLoS One. 2011 Apr 28;6(4):e18569. doi: 10.1371/journal.pone.0018569.
The apolipoprotein E (APOE) ε4 allele has been reported to be a risk factor for Alzheimer's disease (AD) and dementia with Lewy bodies (DLB). Previous neuropathological studies have demonstrated similar frequencies of the APOE ε4 allele in AD and DLB. However, the few ante-mortem studies on APOE allele frequencies in DLB have shown lower frequencies than post-mortem studies. One reason for this may be inaccuracy of diagnosis. We examined APOE genotypes in subjects with AD, DLB, and a control group using the latest diagnostic criteria and MRI, SPECT, and MIBG myocardial scintigraphy.
The subjects of this study consisted of 145 patients with probable AD, 50 subjects with probable DLB, and a control group. AD subjects were divided into two groups based on age of onset: early onset AD (EOAD) and late onset AD (LOAD). All subjects had characteristic features on MRI, SPECT, and/or myocardial scintigraphy.
The rate of APOE4 carrier status was 18.3% and the frequency of the ε4 allele was 9.7% in controls. The rate of APOE4 carrier status and the frequency of the ε4 allele were 47% and 27% for LOAD, 50% and 31% for EOAD, and 42% and 31% for DLB, respectively.
The APOE4 genotypes in this study are consistent with previous neuropathological studies suggesting accurate diagnosis of AD and DLB. APOE4 genotypes were similar in AD and DLB, giving further evidence that the ε4 allele is a risk factor for both disorders.
载脂蛋白 E (APOE) ε4 等位基因已被报道为阿尔茨海默病 (AD) 和路易体痴呆 (DLB) 的危险因素。先前的神经病理学研究表明,AD 和 DLB 中 APOE ε4 等位基因的频率相似。然而,少数 DLB 中 APOE 等位基因频率的生前研究显示其频率低于死后研究。造成这种情况的一个原因可能是诊断不准确。我们使用最新的诊断标准以及 MRI、SPECT 和 MIBG 心肌闪烁显像检查了 AD、DLB 和对照组受试者的 APOE 基因型。
本研究的受试者包括 145 例可能患有 AD 的患者、50 例可能患有 DLB 的患者和对照组。AD 患者根据发病年龄分为早发性 AD (EOAD) 和晚发性 AD (LOAD) 两组。所有受试者均具有 MRI、SPECT 和/或心肌闪烁显像的特征性表现。
对照组 APOE4 携带者的比例为 18.3%,ε4 等位基因的频率为 9.7%。LOAD 的 APOE4 携带者比例和 ε4 等位基因频率分别为 47%和 27%,EOAD 分别为 50%和 31%,DLB 分别为 42%和 31%。
本研究中的 APOE4 基因型与先前的神经病理学研究一致,提示 AD 和 DLB 的诊断准确。AD 和 DLB 中的 APOE4 基因型相似,进一步证明 ε4 等位基因是两种疾病的危险因素。