PIN1基因与阿尔茨海默病的关联研究。
Association study of the PIN1 gene with Alzheimer's disease.
作者信息
Lambert Jean-Charles, Bensemain Faiza, Chapuis Julien, Cottel Dominique, Amouyel Philippe
机构信息
INSERM U744, Institut Pasteur de Lille, Université de Lille 2, France.
出版信息
Neurosci Lett. 2006 Jul 24;402(3):259-61. doi: 10.1016/j.neulet.2006.04.010. Epub 2006 May 15.
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.
基因连锁研究表明，19号染色体上存在一个或多个阿尔茨海默病（AD）基因，这与载脂蛋白E基因无关，载脂蛋白E基因是一个已明确的AD风险因素。最近，位于19p13.2染色体上的PIN1基因被提议作为AD的候选基因。在此，我们研究了该基因内两个启动子多态性（rs2233678和rs2233679）对患AD风险的潜在影响。在一个大型法国病例对照人群中，未观察到这些多态性或单倍型与该疾病的关联。我们的数据表明，PIN1基因中的这些遗传变异对AD风险没有显著影响。
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