The apolipoprotein E (APOE) ε4 allele is the most well-established risk factor for Alzheimer's disease (AD), although its relationship to age at onset and clinical phenotype is unclear. We aimed to assess relationships between APOE genotype and age at onset, amyloid-beta (Aβ) deposition and typical versus atypical clinical presentations in AD. Frequency of APOE ε4 carriers by age at onset was assessed in 447 AD patients, 138 atypical AD patients recruited by the Neurodegenerative Research Group at Mayo Clinic, and 309 with typical AD from ADNI. APOE ε4 frequency increased with age at onset in atypical AD but showed a bell-shaped curve in typical AD where highest frequencies were observed between 65 and 70 years. Typical AD showed higher APOE ε4 frequencies than atypical AD only between the ages of 57 and 69 years. Global Aβ standard uptake value ratios did not differ according to APOE e4 status in either group. APOE genotype varies by both age at onset and clinical phenotype in AD, highlighting the heterogeneous nature of AD.

载脂蛋白 E ( APOE ) ε4 等位基因是阿尔茨海默病 (AD) 最明确的危险因素，尽管其与发病年龄和临床表型的关系尚不清楚。我们旨在评估APOE基因型与发病年龄、淀粉样蛋白 (Aβ) 沉积以及 AD 中典型与非典型临床表现之间的关系。在 447 名 AD 患者、梅奥诊所神经退行性研究小组招募的 138 名非典型 AD 患者和来自 ADNI 的 309 名典型 AD 患者中评估了按发病年龄划分的APOE ε4 携带者频率。载脂蛋白ε4 频率在非典型 AD 中随着年龄的增长而增加，但在典型 AD 中显示出钟形曲线，其中在 65 至 70 岁之间观察到最高频率。典型AD 仅在 57 至 69 岁之间表现出比非典型 AD 更高的APOE ε4 频率。全球 Aβ 标准摄取值比率在两组中都没有根据APOE e4 状态而有所不同。APOE基因型因 AD 的发病年龄和临床表型而异，突出了 AD 的异质性。