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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

TitleRare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Publication TypeJournal Article
Year of Publication2017
AuthorsSims R, van der Lee SJ, Naj AC, et al.
Secondary AuthorsSchellenberg GD
Corporate AuthorsARUK Consortium, GERAD/PERADES, CHARGE, ADGC, EADI
JournalNat Genet
Volume49
Issue9
Pagination1373-1384
Date Published2017 09
ISSN1546-1718
KeywordsAdaptor Proteins, Signal Transducing, Alzheimer Disease, Amino Acid Sequence, Case-Control Studies, Exome, Gene Expression Profiling, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Immunity, Innate, Linkage Disequilibrium, Membrane Glycoproteins, Microglia, Odds Ratio, Phospholipase C gamma, Polymorphism, Single Nucleotide, Protein Interaction Maps, Receptors, Immunologic, Sequence Homology, Amino Acid
Abstract

We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P

DOI10.1038/ng.3916
Alternate JournalNat Genet
PubMed ID28714976
PubMed Central IDPMC5669039
Grant ListP30 AG013854 / AG / NIA NIH HHS / United States
P30 AG053760 / AG / NIA NIH HHS / United States
P50 MH060451 / MH / NIMH NIH HHS / United States
MR/K013041/1 / MRC_ / Medical Research Council / United Kingdom
UL1 TR001445 / TR / NCATS NIH HHS / United States
R01 AG054060 / AG / NIA NIH HHS / United States
MC_U123192748 / MRC_ / Medical Research Council / United Kingdom
G0300329 / MRC_ / Medical Research Council / United Kingdom
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G0900635 / MRC_ / Medical Research Council / United Kingdom
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SHAW/APR15/970-797 / MNDA_ / Motor Neurone Disease Association / United Kingdom
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