Title | Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. |
Publication Type | Journal Article |
Year of Publication | 2017 |
Authors | Sims R, van der Lee SJ, Naj AC, et al. |
Secondary Authors | Schellenberg GD |
Corporate Authors | ARUK Consortium, GERAD/PERADES, CHARGE, ADGC, EADI |
Journal | Nat Genet |
Volume | 49 |
Issue | 9 |
Pagination | 1373-1384 |
Date Published | 2017 09 |
ISSN | 1546-1718 |
Keywords | Adaptor 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 |
DOI | 10.1038/ng.3916 |
Alternate Journal | Nat Genet |
PubMed ID | 28714976 |
PubMed Central ID | PMC5669039 |
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