Association study of the PIN1 gene with Alzheimer's disease

Association study of the PIN1 gene with Alzheimer's disease
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DOI:
10.1016/j.neulet.2006.04.010
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发表时间:
2006-07-24
影响因子:
2.5
通讯作者:
Amouyel, P
Amouyel, P
中科院分区:
医学4区
文献类型:
--
作者:
Lambert, JC;Bensemain, F;Amouyel, P

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遗传连锁研究表明,在19号染色体上存在一个或多个阿尔茨海默病(AD)基因,独立于载脂蛋白E基因,载脂蛋白E基因是一个特征明确的AD风险因素。最近,染色体19p13.2上的PIN1基因被认为是AD的候选基因。在这里,我们研究了该基因内两个启动子多态性(rs2233678和rs2233679)对AD发病风险的潜在影响。在一个大的法国病例对照人群中没有观察到这些多态性或单倍型与疾病的关联。我们的数据表明,PIN1中的这些遗传变异对AD风险没有显著影响。(c)2006爱思唯尔爱尔兰有限公司保留所有权利。
Genetic linkage studies indicate evidence for one or more Alzheimer's disease (AD) genes on chromosome 19 independently of the apolipoprotein E gene, a well-characterized AD-risk factor. Recently, the PIN1 gene on chromosome 19p13.2 has been proposed as a candidate gene for AD. Here, we have investigated the potential impact of two promoter polymorphisms (rs2233678 and rs2233679) within this gene on the risk of developing AD. No association of these polymorphisms or haplotypes with the disease was observed in a large French case-control population. Our data suggest that these genetic variants in PIN1 do not make a significant contribution to AD risk. (c) 2006 Elsevier Ireland Ltd. All rights reserved.