Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease
Evaluation of polymorphisms in the presenilin-1 gene and the butyrylcholinesterase gene as risk factors in sporadic Alzheimer's disease
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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
DOI：
10.1038/sj.ejhg.5200351
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发表时间：
1999
影响因子：
5.2
通讯作者：
N. Kalsheker
中科院分区：
文献类型：
--
作者：
L. Tilley;K. Morgan;Joe Grainger;P. Marsters;L. Morgan;J. Lowe;J. Xuereb;C. Wischik;C. Harrington;N. Kalsheker
载脂蛋白E基因（APOE）的ε4等位基因是迟发性阿尔茨海默病（LOAD）的主要危险因素，但既不是引起该疾病的必要因素，也不足以引起该疾病。在这项研究中，我们调查了早老素-1（PS-1）和丁酰胆碱酯酶（BChE）基因的多态性，这两个基因被认为是LOAD的危险因素。我们的数据集包括177名AD患者和118名对照患者，所有这些患者都在尸检后得到组织病理学证实。我们检测了PS-1等位基因1的纯合性和BChE-K变异体与APOE ε4的相关性作为LOAD的危险因素。我们的研究结果支持PS-1多态性和LOAD之间的关联，发现等位基因1的纯合性与大约两倍的风险增加相关。我们的数据还表明，在年龄大于75岁的受试者中，同时拥有BChE-K和APOE-ε4等位基因与LOAD风险增加相关，而单独与APOE-ε4等位基因相关的风险并不显著。
The ε4 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 ε4 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-ε4 alleles is associated with an increased risk of LOAD, whilst the risk associated with APOE-ε4 allele alone is not significant.
DOI：
10.1073/pnas.90.5.1977
发表时间：
1993-03-01
影响因子：
11.1
作者：
STRITTMATTER, WJ;SAUNDERS, AM;ROSES, AD
通讯作者：
ROSES, AD
阿尔茨海默病丁酰胆碱酯酶基因及其附近 3 号染色体标记的分析。
影响因子：
3.5
作者：
Brindle,N;Song,Y;Rogaeva,E;Premkumar,S;Levesque,G;Yu,G;Ikeda,M;Nishimura,M;Paterson,A;Sorbi,S;Duara,R;Farrer,L;StGeorge-Hyslop,P
通讯作者：
StGeorge-Hyslop,P