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早老素-1基因和丁酰胆碱酯酶基因多态性作为散发性阿尔茨海默病危险因素的评估

Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease.

作者信息

Tilley L, Morgan K, Grainger J, Marsters P, Morgan L, Lowe J, Xuereb J, Wischik C, Harrington C, Kalsheker N

机构信息

Division of Clinical Chemistry, School of Clinical Laboratory Sciences, University Hospital, Queen's Medical Centre, Nottingham, UK.

出版信息

Eur J Hum Genet. 1999 Sep;7(6):659-63. doi: 10.1038/sj.ejhg.5200351.

Abstract

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.

摘要

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。

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