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

TitleAssociation of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
Publication TypeJournal Article
Year of Publication2010
AuthorsCorneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Chibnik LB, Shulman JM, Singleton AB, Craig DW, Van Keuren-Jensen KR, Dunckley T, Bennett DA, De Jager PL, Heward C, Hardy J, Reiman EM, Huentelman MJ
JournalHum Mol Genet
Volume19
Issue16
Pagination3295-301
Date Published2010 Aug 15
ISSN1460-2083
KeywordsAlzheimer Disease, Apolipoproteins E, Clusterin, Cohort Studies, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Monomeric Clathrin Assembly Proteins, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Complement 3b
Abstract

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.

DOI10.1093/hmg/ddq221
Alternate JournalHum. Mol. Genet.
PubMed ID20534741
PubMed Central IDPMC2908469
Grant ListK08 AG034290 / AG / NIA NIH HHS / United States
G0701075 / / Medical Research Council / United Kingdom
U01 AG016976 / AG / NIA NIH HHS / United States
G0900652 / / Medical Research Council / United Kingdom
G0502157 / / Medical Research Council / United Kingdom
G0400074 / / Medical Research Council / United Kingdom
R01 AG034504 / AG / NIA NIH HHS / United States
P30 AG019610 / AG / NIA NIH HHS / United States
R01 NS059873 / NS / NINDS NIH HHS / United States
R01 AG015819 / AG / NIA NIH HHS / United States