Lehmann D J, Johnston C, Smith A D
Oxford Project to Investigate Memory and Ageing (OPTIMA), University Department of Pharmacology, UK.
Hum Mol Genet. 1997 Oct;6(11):1933-6. doi: 10.1093/hmg/6.11.1933.
The allelic frequency of the gene for the K variant of butyrylcholinesterase (BCHE-K) was 0.17 in 74 subjects with late-onset (age > 65 years) histopathologically diagnosed Alzheimer's disease (AD), which was higher than the frequencies in 104 elderly control subjects (0.09), in 14 early-onset cases of confirmed AD (0.07) and in 29 confirmed cases of other dementia (0.10). The association of BCHE-K with late-onset AD was limited to carriers of the epsilon 4 allele of the apolipoprotein E gene (APOE), among whom the presence of BCHE-K gave an odds ratio of confirmed late-onset AD of 6.9 (95% C.I. 1.65-29) in subjects > 65 years and of 12.8 (1.9-86) in subjects > 75 years. In APOE epsilon 4 carriers over 75 years, only 1/22 controls, compared with 10/24 confirmed late-onset AD cases, had BCHE-K. We suggest that BCHE-K, or a nearby gene on chromosome 3, acts in synergy with APOE epsilon 4 as a susceptibility gene for late-onset AD.
在74例经组织病理学诊断为晚发型（年龄>65岁）阿尔茨海默病（AD）的患者中，丁酰胆碱酯酶K变异体（BCHE-K）基因的等位基因频率为0.17，高于104例老年对照受试者（0.09）、14例确诊的早发型AD患者（0.07）以及29例确诊的其他痴呆患者（0.10）。BCHE-K与晚发型AD的关联仅限于载脂蛋白E基因（APOE）ε4等位基因的携带者，在这些携带者中，BCHE-K的存在使65岁以上受试者确诊晚发型AD的比值比为6.9（95%置信区间1.65 - 29），75岁以上受试者为12.8（1.9 - 86）。在75岁以上的APOE ε4携带者中，只有1/22的对照者携带BCHE-K，而确诊的晚发型AD患者中有10/24携带。我们认为，BCHE-K或3号染色体上的一个邻近基因，与APOE ε4协同作用，作为晚发型AD的一个易感基因。
