Tilley L, Morgan K, Grainger J, Marsters P, Morgan L, Lowe J, Xuereb J, Wischik C, Harrington C, Kalsheker N
Division of Clinical Chemistry, School of Clinical Laboratory Sciences, University Hospital, Queen's Medical Centre, Nottingham, UK.
Eur J Hum Genet. 1999 Sep;7(6):659-63. doi: 10.1038/sj.ejhg.5200351.
The E4 allele of the apolipoprotein E gene (APOE) is a major risk factor for late-onset Alzheimer's disease (LOAD) but is neither necessary nor sufficient to cause the disease. In this study, we investigated polymorphisms in the presenilin-1 (PS-1), and butyrylcholinesterase (BChE) genes, which have been implicated as risk factors for LOAD. Our data-set comprised 177 AD and 118 control patients, all of whom had been histopathologically confirmed following autopsy. We have tested homozygosity for the PS-1 allele 1 and possession of the BChE-K variant in association with APOE epsilon4 as risk factors in LOAD. Our findings support an association between the PS-1 polymorphism and LOAD, finding homozygosity for allele 1 associated with an approximately two-fold increased risk. Our data also show that in subjects greater than 75 years of age possession of both BChE-K and APOE-epsilon4 alleles is associated with an increased risk of LOAD, whilst the risk associated with APOE-epsilon4 allele alone is not significant.
载脂蛋白E基因(APOE)的E4等位基因是晚发性阿尔茨海默病(LOAD)的主要危险因素,但它既不是引发该病的必要条件,也不是充分条件。在本研究中,我们调查了早老素-1(PS-1)基因和丁酰胆碱酯酶(BChE)基因的多态性,这些基因被认为是LOAD的危险因素。我们的数据集包括177例AD患者和118例对照患者,所有患者均在尸检后经组织病理学确诊。我们检测了PS-1基因1号等位基因的纯合性以及BChE-K变体与APOE ε4作为LOAD危险因素的相关性。我们的研究结果支持PS-1基因多态性与LOAD之间存在关联,发现1号等位基因的纯合性与风险增加约两倍相关。我们的数据还表明,在75岁以上的受试者中,同时拥有BChE-K和APOE-ε4等位基因与LOAD风险增加相关,而仅与APOE-ε4等位基因相关的风险并不显著。