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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.

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