Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals
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DOI：
10.1093/hmg/ddq221
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发表时间：
2010-08-15
影响因子：
3.5
通讯作者：
Huentelman, Matthew J.
中科院分区：
文献类型：
--
作者：
Corneveaux, Jason J.;Myers, Amanda J.;Huentelman, Matthew J.
在这项研究中，我们评估了34个最重复的遗传协会阿尔茨海默病（AD）使用的数据产生的Affyssoft SNP 6.0阵列和插补超过570万个标志物从一个独特的队列超过1600神经病理学定义的AD病例和对照（1019例和591对照）。测试来自AlzGene荟萃分析的顶级基因，我们证实了与APOE单核苷酸多态性（SNP）的众所周知的关联，CLU，PICALM和CR1 SNP最近涉及异常大的数据集，以及以前涉及的CST 3和ACE SNP。在CLU、PICALM和CR1以及APOE的病例中，我们发现的比值比略大于先前在临床样本中报告的比值比，这与我们认为在临床特征和神经病理学证实的AD病例和对照中更准确的疾病分类一致。
In this study, we assess 34 of the most replicated genetic associations for Alzheimer's disease (AD) using data generated on Affymetrix SNP 6.0 arrays and imputed at over 5.7 million markers from a unique cohort of over 1600 neuropathologically defined AD cases and controls (1019 cases and 591 controls). Testing the top genes from the AlzGene meta-analysis, we confirm the well-known association with APOE single nucleotide polymorphisms (SNPs), the CLU, PICALM and CR1 SNPs recently implicated in unusually large data sets, and previously implicated CST3 and ACE SNPs. In the cases of CLU, PICALM and CR1, as well as in APOE, the odds ratios we find are slightly larger than those previously reported in clinical samples, consistent with what we believe to be more accurate classification of disease in the clinically characterized and neuropathologically confirmed AD cases and controls.