Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals

作者：Corneveaux Jason J; Myers Amanda J; Allen April N; Pruzin Jeremy J; Ramirez Manuel; Engel Anzhelika; Nalls Michael A; Chen Kewei; Lee Wendy; Chewning Kendria; Villa Stephen E; Meechoovet Hunsar B; Gerber Jill D; Frost Danielle; Benson Hollie L; O'Reilly Sean; Chibnik Lori B; Shulman Joshua M; Singleton Andrew B; Craig David W; Van Keuren Jensen Kendall R; Dunckley Travis; Bennett David A; De Jager Philip L; Heward Christopher; Hardy John

来源：Human Molecular Genetics, 2010, 19(16): 3295-3301.

DOI：10.1093/hmg/ddq221

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.

• 出版日期2010-8-15
• 单位NIH