No association of SORL1 SNPs with Alzheimer's disease

No association of SORL1 SNPs with Alzheimer's disease
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DOI:
10.1016/j.neulet.2008.05.082
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发表时间:
2008-08-01
影响因子:
2.5
通讯作者:
Kamboh, M. Ilyas
Kamboh, M. Ilyas
中科院分区:
医学4区
文献类型:
--
作者:
Minster, Ryan L.;DeKosky, Steven T.;Kamboh, M. Ilyas

文献摘要

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SORL1是淀粉样前体蛋白处理途径的一个元件,因此是影响阿尔茨海默病(AD)风险的一个很好的候选因素。事实上,已经有报告表明SORL1的变异与AD风险之间存在关联。我们在一个大型的美国高加索病例对照队列(1000例晚发性AD[LOAD]病例和1000例老年对照)中检测了最初观察到的6个具有统计学意义的单核苷酸多态。对等位基因、基因型和单倍型频率的分析表明,在我们的队列中,与负荷风险无关。(C)2008爱思唯尔爱尔兰有限公司。保留所有权利。
SORL1 is an element of the amyloid precursor protein processing pathway and is therefore a good candidate for affecting Alzheimer's disease (AD) risk. Indeed, there have been reports of associations between variation in SORL1 and AD risk. We examined six statistically significant single-nucleotide polymorphisms from the initial observation in a large Caucasian American case-controls cohort (1000 late-onset AD [LOAD] cases and 1000 older controls). Analysis of allele, genotype and haplotype frequencies revealed no association with LOAD risk in our cohort. (c) 2008 Elsevier Ireland Ltd. All rights reserved.