We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848 controls), we replicated the established association with the apolipoprotein E (APOE) locus (most significant SNP, rs2075650, P = 1.8 × 10 157) and observed genome-wide significant association with SNPs at two loci not previously associated with the disease: at the CLU (also known as APOJ) gene (rs11136000, P = 1.4 × 10 9) and 5′ to the PICALM gene (rs3851179, P = 1.9 × 10 8). These associations were replicated in stage 2 (2,023 cases and 2,340 controls), producing compelling evidence for association with Alzheimer's disease in the combined dataset (rs11136000, P = 8.5 × 10 10, odds ratio = 0.86; rs3851179, P = 1.3 × 10 9, odds ratio = 0.86). © 2009 Nature America, Inc. All rights reserved.
CITATION STYLE
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., … Williams, J. (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nature Genetics, 41(10), 1088–1093. https://doi.org/10.1038/ng.440
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