Convergent genetic and expression data implicate immunity in Alzheimer's disease
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BACKGROUND: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. METHODS: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. RESULTS: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 × 10(-12) after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 × 10(-11)), cholesterol transport (P = 2.96 × 10(-9)), and proteasome-ubiquitin activity (P = 1.34 × 10(-6)). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002-.05). CONCLUSIONS: The immune response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
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Several known AD susceptibility genes associated with late-onset AD have been linked to alterations in peripheral immune cell function rather than microglial activation.
“Notably, several of the known AD susceptibility genes that are associated with late-onset AD have been linked to alterations in peripheral immune cell function rather than microglial activation.20,21”
From TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice (2025) · cites this paper as [20]
The Discussion (page unavailable) links the AD susceptibility gene CR1 to B-cell subsets and notes macrophage-related activity for another implicated gene, supporting a peripheral-immune connection. It does not establish that several known late-onset AD susceptibility genes act through peripheral immune cells rather than microglia; instead, it discusses TREM2-mediated microglial activation as a possible contributor to susceptibility. (LLM, conf=0.84)
Experimental — accuracy not yet measuredMeta-analysis of genome-wide association studies indicates that genes expressed in microglia influence risk for late-onset Alzheimer's disease.
“Meta-analysis of genome-wide association studies for AD suggests that genes expressed in microglia modulate risk for late onset AD (Jones et al., 2015; Kunkle et al., 2019).”
From Alzheimer's-associated PU.1 expression levels regulate microglial inflammatory response (2021) · cites this paper as Jones et al., 2015
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Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625 · see citing works
Cytoscape: A software Environment for integrated models of biomolecular interaction networks
Shannon, P., Markiel, A., Ozier, O., Baliga, N. S., Wang, J. T., Ramage, D., Amin, N., Schwikowski, B., & Ideker, T. (2003) · Genome Research · doi:10.1101/gr.1239303 · Cited by 51,888 · see citing works
Self-citationSystematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nature Protocols · doi:10.1038/nprot.2008.211 · Cited by 35,890 · see citing works
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252 · see citing works
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn923 · Cited by 14,108 · see citing works
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248 · see citing works
Mootha, V. K., Lindgren, C. M., Eriksson, K.-F., Subramanian, A., Sihag, S., Lehar, J., Puigserver, P., Carlsson, E., Ridderstråle, M., Laurila, E., et al. (2003) · Nature Genetics · doi:10.1038/ng1180 · Cited by 10,197 · see citing works
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429 · see citing works
Self-citationREVIGO summarizes and visualizes long lists of gene ontology terms
Supek, F., Bošnjak, M., Škunca, N., & Šmuc, T. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021800 · Cited by 6,264 · see citing works
KEGG for integration and interpretation of large-scale molecular data sets
Kanehisa, M., Goto, S., Sato, Y., Furumichi, M., & Tanabe, M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr988 · Cited by 4,848 · see citing works
The Gene Ontology (GO) database and informatics resource
Gene Ontology Consortium (2003) · Nucleic Acids Research · doi:10.1093/nar/gkh036 · Cited by 4,533 · see citing works
Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease
(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336 · see citing works
Self-citationHarold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326 · see citing works
Self-citation<i>TREM2</i> Variants in Alzheimer's Disease
Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1211851 · Cited by 3,020 · see citing works
Self-citationEnrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation
Merico, D., Isserlin, R., Stueker, O., Emili, A., & Bader, G. D. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013984 · Cited by 2,235 · see citing works
Alzheimer Disease in the US Population: Prevalence Estimates Using the 2000 Census
Hebert, L. E., Scherr, P. A., Bienias, J. L., Bennett, D. A., & Evans, D. A. (2003) · Archives of Neurology · doi:10.1001/archneur.60.8.1119 · Cited by 2,168 · see citing works
Self-citationAmyloid Precursor Protein Processing and Alzheimer's Disease
O'Brien, R. J., & Wong, P. C. (2011) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-061010-113613 · Cited by 2,061 · see citing works
Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.803 · Cited by 1,997 · see citing works
Self-citationPrevalence of Dementia in the United States: The Aging, Demographics, and Memory Study
Plassman, B. L., Langa, K. M., Fisher, G. G., Heeringa, S. G., Weir, D. R., Ofstedal, M. B., Burke, J. R., Hurd, M. D., Potter, G. G., Rodgers, W. L., et al. (2007) · Neuroepidemiology · doi:10.1159/000109998 · Cited by 1,932 · see citing works
Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901 · see citing works
Self-citationRole of Genes and Environments for Explaining Alzheimer Disease
Gatz, M., Reynolds, C. A., Fratiglioni, L., Johansson, B., Mortimer, J. A., Berg, S., Fiske, A., & Pedersen, N. L. (2006) · Archives of General Psychiatry · doi:10.1001/archpsyc.63.2.168 · Cited by 1,798 · see citing works
Self-citationA mutation in APP protects against Alzheimer’s disease and age-related cognitive decline
Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738 · see citing works
Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
Zhang, B., Gaiteri, C., Bodea, L.-G., Wang, Z., McElwee, J., Podtelezhnikov, A. A., Zhang, C., Xie, T., Tran, L., Dobrin, R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.03.030 · Cited by 1,657 · see citing works
Self-citationGenome-wide Analysis of Genetic Loci Associated With Alzheimer Disease
Seshadri, S. (2010) · JAMA · doi:10.1001/jama.2010.574 · Cited by 1,219 · see citing works
Self-citationPathway-Based Approaches for Analysis of Genomewide Association Studies
Wang, K., Li, M., & Bućan, M. (2007) · The American Journal of Human Genetics · doi:10.1086/522374 · Cited by 858 · see citing works
The amyloid hypothesis for Alzheimer’s disease: A critical reappraisal
Hardy, J. (2009) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2009.06181.x · Cited by 814 · see citing works
Self-citationAbundant quantitative trait loci exist for DNA methylation and gene expression in human brain
Gibbs, J. R., van der Brug, M. P., Hernandez, D. G., Traynor, B. J., Nalls, M. A., Lai, S.-L., Arepalli, S., Dillman, A., Rafferty, I. P., Troncoso, J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000952 · Cited by 769 · see citing works
Jones, L., Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., Pocklington, A., Abraham, R., Hollingworth, P., Sims, R., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013950 · Cited by 606 · see citing works
Self-citationAlzheimer disease therapy—moving from amyloid-β to tau
Giacobini, E., & Gold, G. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.223 · Cited by 483 · see citing works
400: A Method for Combining Non-Independent, One-Sided Tests of Significance
Brown, M. B. (1975) · Biometrics · doi:10.2307/2529826 · Cited by 473 · see citing works
Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder
Holmans, P., Green, E. K., Pahwa, J. S., Ferreira, M. A. R., Purcell, S. M., Sklar, P., Owen, M. J., O'Donovan, M. C., & Craddock, N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.011 · Cited by 378 · see citing works
When is hub gene selection better than standard meta-analysis?
Langfelder, P., Mischel, P. S., & Horvath, S. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061505 · Cited by 313 · see citing works
So, H.-C., Gui, A. H. S., Cherny, S. S., & Sham, P. C. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20579 · Cited by 289 · see citing works
Lee, S. H., Harold, D., Nyholt, D. R., ANZGene Consortium, International Endogene Consortium, the Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium, Goddard, M. E., Zondervan, K. T., Williams, J., Montgomery, G. W., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/dds491 · Cited by 217 · see citing works
Self-citationPopulation-specific expression analysis (PSEA) reveals molecular changes in diseased brain
Kuhn, A., Thu, D., Waldvogel, H. J., Faull, R. L. M., & Luthi-Carter, R. (2011) · Nature Methods · doi:10.1038/nmeth.1710 · Cited by 195 · see citing works
Insights into TREM2 biology by network analysis of human brain gene expression data
Forabosco, P., Ramasamy, A., Trabzuni, D., Walker, R., Smith, C., Bras, J., Levine, A. P., Hardy, J., Pocock, J. M., Guerreiro, R., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2013.05.001 · Cited by 180 · see citing works
Self-citationImplication of the Immune System in Alzheimer's Disease: Evidence from Genome-Wide Pathway Analysis
Lambert, J.-C., Grenier-Boley, B., Chouraki, V., Heath, S., Zelenika, D., Fievet, N., Hannequin, D., Pasquier, F., Hanon, O., Brice, A., et al. (2010) · Journal of Alzheimer's Disease · doi:10.3233/jad-2010-100018 · Cited by 144 · see citing works
Self-citationReinbothe, T. M., Alkayyali, S., Ahlqvist, E., Tuomi, T., Isomaa, B., Lyssenko, V., & Renström, E. (2013) · Diabetologia · doi:10.1007/s00125-012-2758-z · Cited by 84 · see citing works
Sources of variability in estimates of the prevalence of Alzheimer's disease in the United States
Wilson, R. S., Weir, D. R., Leurgans, S. E., Evans, D. A., Hebert, L. E., Langa, K. M., Plassman, B. L., Small, B. J., & Bennett, D. A. (2011) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2010.11.006 · Cited by 74 · see citing works
Self-citationRole of H2-calponin in Regulating Macrophage Motility and Phagocytosis
Huang, Q.-Q., Hossain, M. M., Wu, K., Parai, K., Pope, R. M., & Jin, J. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m801163200 · Cited by 64 · see citing works
Wu, K., & Jin, J. (2008) · Cell Biochemistry and Biophysics · doi:10.1007/s12013-008-9031-6 · Cited by 59 · see citing works
Moskvina, V., O'Dushlaine, C., Purcell, S., Craddock, N., Holmans, P., & O'Donovan, M. C. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20636 · Cited by 49 · see citing works
Self-citationYue, L., Bian, J.-T., Grizelj, I., et al. (2012) · Hypertension · doi:10.1161/hypertensionaha.112.196667 · Cited by 44 · see citing works
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The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science · doi:10.1126/science.aap8757 · Cited by 1,924 · see citing works
Self-citationPreclinical Alzheimer’s Disease: Definition, Natural History, and Diagnostic Criteria
Dubois, B., Hampel, H., Feldman, H. H., Scheltens, P., Aisen, P., Andrieu, S., Bakardjian, H., Benali, H., Bertram, L., Blennow, K., et al. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.02.002 · Cited by 1,925 · see citing works
ARUK Consortium, Sims, R., GERAD/PERADES, C., van der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3916 · Cited by 1,126 · see citing works
Self-citationAssociation of Lifestyle and Genetic Risk With Incidence of Dementia
Lourida, I., Hannon, E., Littlejohns, T. J., Langa, K. M., Hyppönen, E., Kuzma, E., & Llewellyn, D. J. (2019) · JAMA · doi:10.1001/jama.2019.9879 · Cited by 881 · see citing works
MahmoudianDehkordi, S., Arnold, M., Nho, K., Ahmad, S., Jia, W., Xie, G., Louie, G., Kueider‐Paisley, A., Moseley, M. A., Thompson, J. W., et al. (2019) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.07.217 · Cited by 706 · see citing works
Self-citationGWAS on family history of Alzheimer’s disease
Marioni, R. E., Harris, S. E., Zhang, Q., McRae, A. F., Hagenaars, S. P., Hill, W. D., Davies, G., Ritchie, C. W., Gale, C. R., Starr, J. M., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0150-6 · Cited by 564 · see citing works
Self-citationThe age factor in Alzheimer’s disease
Guerreiro, R., & Bras, J. (2015) · Genome Medicine · doi:10.1186/s13073-015-0232-5 · Cited by 415 · see citing works
Common polygenic variation enhances risk prediction for Alzheimer’s disease
Escott-Price, V., Sims, R., Bannister, C., Harold, D., Vronskaya, M., Majounie, E., Badarinarayan, N., GERAD/PERADES, consortia, I., Morgan, K., et al. (2015) · Brain · doi:10.1093/brain/awv268 · Cited by 414 · see citing works
Self-citationImmune Signaling in Neurodegeneration
Hammond, T. R., Marsh, S. E., & Stevens, B. (2019) · Immunity · doi:10.1016/j.immuni.2019.03.016 · Cited by 336 · see citing works
Glial activation and inflammation along the Alzheimer’s disease continuum
Nordengen, K., Kirsebom, B.-E., Henjum, K., Selnes, P., Gísladóttir, B., Wettergreen, M., Torsetnes, S. B., Grøntvedt, G. R., Waterloo, K. K., Aarsland, D., et al. (2019) · Journal of Neuroinflammation · doi:10.1186/s12974-019-1399-2 · Cited by 274 · see citing works
Mosaic Loss of Chromosome y in Blood Is Associated with Alzheimer Disease
Dumanski, J. P., Lambert, J.-C., Rasi, C., Giedraitis, V., Davies, H., Grenier-Boley, B., Lindgren, C. M., Campion, D., Dufouil, C., Pasquier, F., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.014 · Cited by 266 · see citing works
Self-citationUntangling Genetic Risk for Alzheimer’s Disease
Pimenova, A. A., Raj, T., & Goate, A. M. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.05.014 · Cited by 223 · see citing works
Self-citationLarge-scale plasma proteomic analysis identifies proteins and pathways associated with dementia risk
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Self-citationMetabolic Network Analysis Reveals Altered Bile Acid Synthesis and Metabolism in Alzheimer’s Disease
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Self-citationComplement in the pathogenesis of Alzheimer’s disease
Morgan, B. P. (2018) · Seminars in Immunopathology · doi:10.1007/s00281-017-0662-9 · Cited by 194 · see citing works
Neuner, S. M., Heuer, S. E., Huentelman, M. J., O’Connell, K. M. S., & Kaczorowski, C. C. (2019) · Neuron · doi:10.1016/j.neuron.2018.11.040 · Cited by 202 · see citing works
Dourlen, P., Kilinc, D., Malmanche, N., Chapuis, J., & Lambert, J.-C. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02004-0 · Cited by 168 · see citing works
Self-citationIdentification of evolutionarily conserved gene networks mediating neurodegenerative dementia
Swarup, V., Hinz, F. I., Rexach, J. E., Noguchi, K.-I., Toyoshiba, H., Oda, A., Hirai, K., Sarkar, A., Seyfried, N. T., Cheng, C., et al. (2019) · Nature Medicine · doi:10.1038/s41591-018-0223-3 · Cited by 136 · see citing works
Self-citationMcKenzie, A. T., Moyon, S., Wang, M., Katsyv, I., Song, W.-M., Zhou, X., Dammer, E. B., Duong, D. M., Aaker, J., Zhao, Y., et al. (2017) · Molecular Neurodegeneration · doi:10.1186/s13024-017-0219-3 · Cited by 154 · see citing works
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Magno, L., Lessard, C. B., Martins, M., Lang, V., Cruz, P., Asi, Y., Katan, M., Bilsland, J., Lashley, T., Chakrabarty, P., et al. (2019) · Alzheimer's Research & Therapy · doi:10.1186/s13195-019-0469-0 · Cited by 143 · see citing works
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Self-citationJiang, Q., Jin, S., Jiang, Y., Liao, M., Feng, R., Zhang, L., Liu, G., & Hao, J. (2017) · Molecular Neurobiology · doi:10.1007/s12035-015-9670-8 · Cited by 132 · see citing works
Tansey, K. E., Cameron, D., & Hill, M. J. (2018) · Genome Medicine · doi:10.1186/s13073-018-0523-8 · Cited by 115 · see citing works
Lacour, A., Espinosa, A., Louwersheimer, E., Heilmann, S., Hernández, I., Wolfsgruber, S., Fernández, V, Wagner, H., Rosende-Roca, M., Mauleón, A., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.18 · Cited by 101 · see citing works
Self-citationLópez González, I., Garcia-Esparcia, P., Llorens, F., & Ferrer, I. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17020206 · Cited by 101 · see citing works
Genomics implicates adaptive and innate immunity in Alzheimer’s and Parkinson’s diseases
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Self-citationHaure-Mirande, J.-V., Wang, M., Audrain, M., Fanutza, T., Kim, S. H., Heja, S., Readhead, B., Dudley, J. T., Blitzer, R. D., Schadt, E. E., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0255-6 · Cited by 84 · see citing works
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Wang, W., Li, Y., Ma, F., Sheng, X., Chen, K., Zhuo, R., Wang, C., Zheng, H., Zhang, Y.-W., Bu, G., et al. (2023) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2023.07.011 · Cited by 71 · see citing works
Matatall, K. A., Wathan, T. K., Nguyen, M., Chen, H., McDonald, A., Qi, G., Belk, J. A., Florez, M. A., Le, D. T., Olarinde, T., et al. (2025) · Cell Stem Cell · doi:10.1016/j.stem.2025.06.006 · Cited by 23 · see citing works
- Authors
- International Genomics of Alzheimer's Disease Consortium (IGAP), Jones, L., Lambert, J., Wang, L., Choi, S., Harold, D., Vedernikov, A., Escott‐Price, V., Stone, T., Richards, A., Bellenguez, C., Ibrahim‐Verbaas, C. A., Naj, A. C., Sims, R., Gerrish, A., Jun, G., DeStefano, A. L., Bis, J. C., Beecham, G. W., Grenier‐Boley, B., Russo, G., Thornton‐Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Ikram, M. A., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C., Schmidt, H., Kunkle, B. W., Dunstan, M. L., Ruiz, A., Bihoreau, M., Reitz, C., Pasquier, F., Hollingworth, P., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Becker, T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letteneur, L., Kornhuber, J., Tárraga, L., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiévet, N., Huentelman, M. J., Gill, M., Emilsson, V., Brown, K., Kamboh, M. I., Keller, L., Barberger‐Gateau, P., McGuinness, B., Larson, E. B., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Kehoe, P., Rogaeva, E., Gallacher, J., St George‐Hyslop, P., Clarimon, J., Lleò, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez Garcia, F., Fox, N., Hardy, J., Deniz Naranjo, M. C., Razquin, C., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Mancuso, M., CFAS, M., Moebus, S., Mecocci, P., del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Nacmias, B., Gilbert, J. R., Mayhaus, M., Jessen, F., Dichgans, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alavarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton‐Nelson, K. L., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., de Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Pastor, P., Schmidt, R., Rujescu, D., Dartigues, J., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Psaty, B. M., Haines, J. L., Lathrop, M., Pericak‐Vance, M. A., Launer, L. J., Farrer, L. A., van Duijn, C. M., Van Broeckhoven, C., Ramirez, A., Schellenberg, G. D., Seshadri, S., Amouyel, P., Williams, J., & Holmans, P. A.
- Affiliations
- University of Mississippi Medical Center (US)
- Inserm (FR)
- Department of Pathology and Laboratory Medicine University of Pennsylvania Perelman School of Medicine Philadelphia PA 19104 USA
- Boston University (US)
- St. James's Hospital (IE)
- Cardiff University (GB)
- Erasmus MC (NL)
- University of Miami (US)
- University of Washington (US)
- Functional Genomics Center Zurich (CH)
- Vanderbilt University (US)
- University of Iceland (IS)
- Centre National de Genotypage Institut Genomique, Commissariat à l'énergie Atomique Evry 91300 France
- Fondation Jean Dausset-CEPH (FR)
- University of Pennsylvania (US)
- Medical University of Graz (AT)
- Memory Clinic of Fundació ACE. Institut Català de Neurociències Aplicades Barcelona 8029 Spain
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Columbia University Irving Medical Center (US)
- Université de Lille (FR)
- Icahn School of Medicine at Mount Sinai (US)
- University of Bonn (DE)
- Washington University in St. Louis (US)
- Queen's University Belfast (GB)
- Departments of Neurology University of Pittsburgh School of Medicine Pittsburgh PA 15213 USA
- Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology & Psychiatry Brigham and Women's Hospital and Harvard Medical School Boston MA 02215 USA
- Rush University Medical Center (US)
- King's College London (GB)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Fundació ACE (ES)
- University of Cambridge (GB)
- Icelandic Heart Association (IS)
- University of Antwerp (BE)
- Translational Genomics Research Institute (US)
- Trinity College Dublin (IE)
- University of Nottingham (GB)
- University of Pittsburgh (US)
- Stockholm University (SE)
- Kaiser Permanente Washington Health Research Institute (US)
- University of Bristol (GB)
- University of Bristol Clinical Neurosciences, Level 1 Learning and Research Building BS10 5NB Bristol
- University of Toronto (CA)
- University Hospital of Wales (GB)
- Tanz Centre for Research in Neurodegenerative Disease University of Toronto Toronto ON M5S 1A1 Canada
- Neurology Department, IIB Sant Pau, Sant Pau Hospital Universitat Autònoma de Barcelona Barcelona 08026 Spain
- Institute of Primary Care and Public Health Cardiff University, Neuadd Meirionnydd, University Hospital of Wales Heath Park Cardiff CF14 4XN UK
- Aristotle University of Thessaloniki (GR)
- Fondazione Santa Lucia (IT)
- King's College London, Institute of Psychiatry Department of Neuroscience De Crespigny Park, Denmark, Hill London SE5
- MRC Prion Unit (GB)
- University of Florence (IT)
- Department of Immunology Hospital Universitario Dr. Negrin, Las Palmas de Gran Canaria 35012 Las Palmas Spain
- UCL Queen Square Institute of Neurology (GB)
- Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research University of Navarra School of Medicine Pamplona 28023 Spain
- Oasi Maria SS (IT)
- University of Oxford (GB)
- University of Milan (IT)
- University of Pisa (IT)
- University of Perugia (IT)
- University of Cagliari (IT)
- Section of Neuroscience and Clinical Pharmacology, Department of Biomedical Sciences University of Cagliari Cagliari 09123 Italy
- Casa Sollievo della Sofferenza (IT)
- Consejo Superior de Investigaciones Científicas (ES)
- University of Parma (IT)
- Uppsala University (SE)
- Children's Hospital of Philadelphia (US)
- Universitätsklinikum des Saarlandes (DE)
- Mayo Clinic in Florida (US)
- Genetica molecular-Huca-Oviedo Oviedo 33006 Spain
- Universidad de Cantabria (ES)
- Indiana University Indianapolis (US)
- National University Hospital of Iceland (IS)
- Landspitali University Hospital Reykjavik 543-1000 Iceland
- Institute of Psychological Medicine and Clinical Neurosciences Cardiff University, Hadyn Ellis Building Maindy Road Cardiff CF24 4HQ
- University of Eastern Finland (FI)
- Harvard University (US)
- National Institutes of Health (US)
- Karolinska University Hospital (SE)
- Departments of Neurology and Epidemiology Erasmus MC University Medical Center Rotterdam 3015 CE The Netherlands
- Cedars-Sinai Medical Center (US)
- Laboratory of Neurogenetics, Intramural Research Program National Institute on Aging Bethesda MD 20892 USA
- Baylor College of Medicine (US)
- Department of Psychiatry University Hospital 66424 Homburg Saarland
- Memory Clinic of Fundació ACE Institut Català de Neurociències Aplicades Barcelona 8029 Spain
- Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research and Department of Neurology Clínica Universidad de Navarra, University of Navarra School of Medicine Pamplona Spain
- Departments of Epidemiology, Neurology and Radiology Erasmus MC University Medical Center Rotterdam 3015 CE The Netherlands
- Department of Epidemiology Erasmus MC University Medical Center Rotterdam 3015 CE The Netherlands
- Neurodegenerative Brain Diseases Group Department of Molecular Genetics, VIB Antwerp 2000 Belgium
- Department of Psychiatry and Psychotherapy and Institute of Human Genetics University of Bonn Bonn 53113 Germany
- Corresponding author
- Amouyel, Philippe
- Williams, Julie
- ORCID
- Jones, Lesley
- Lambert, Jean‐Charles
- Harold, Denise
- Vedernikov, Alexey
- Escott‐Price, Valentina
- Richards, Alexander
- Bellenguez, Céline
- Ibrahim‐Verbaas, Carla A.
- Naj, Adam C.
- Sims, Rebecca
- Gerrish, Amy
- Jun, Gyungah
- DeStefano, Anita L.
- Bis, Joshua C.
- Beecham, Gary W.
- Grenier‐Boley, Benjamin
- Russo, Giancarlo
- Smith, Albert V.
- Chouraki, Vincent
- Thomas, Charlene
- Ikram, M. Arfan
- Vardarajan, Badri N.
- Lin, Chiao‐Feng
- Schmidt, Helena
- Kunkle, Brian W.
- Dunstan, Melanie L.
- Pasquier, Florence
- Hanon, Olivier
- Buxbaum, Joseph D.
- Campion, Dominique
- Crane, Paul K.
- Becker, Tim
- Gudnason, Vilmundur
- Cruchaga, Carlos
- Craig, David
- Amin, Najaf
- Berr, Claudine
- Deramecourt, Vincent
- Evans, Denis
- Lovestone, Simon
- Tárraga, Lluís
- Rubinsztein, David C.
- Sleegers, Kristel
- Goate, Alison M.
- Huentelman, Matthew J.
- Gill, Michael
- Emilsson, Valur
- Kamboh, M. Ilyas
- McGuinness, Bernadette
- Larson, Eric B.
- Myers, Amanda J.
- Dufouil, Carole
- Todd, Stephen
- Wallon, David
- Love, Seth
- Rogaeva, Ekaterina
- Gallacher, John
- Tsuang, Debby W.
- Yu, Lei
- Tsolaki, Magda
- Bossù, Paola
- Spalletta, Gianfranco
- Collinge, John
- Sorbi, Sandro
- Fox, Nick
- Hardy, John
- Clarke, Robert
- Brayne, Carol
- Galimberti, Daniela
- Mancuso, Michelangelo
- Moebus, Susanne
- Mecocci, Patrizia
- Hampel, Harald
- Bullido, Maria
- Panza, Francesco
- Caffarra, Paolo
- Nacmias, Benedetta
- Gilbert, John R.
- Jessen, Frank
- Dichgans, Martin
- Lannfelt, Lars
- Hakonarson, Hakon
- Carrasquillo, Minerva M.
- Ingelsson, Martin
- Valladares, Otto
- Hamilton‐Nelson, Kara L.
- Owen, Michael J.
- Faber, Kelley M.
- Soininen, Hilkka
- Blacker, Deborah
- Mead, Simon
- Mosley, Thomas H.
- Bennett, David A.
- Harris, Tamara B.
- Fratiglioni, Laura
- Holmes, Clive
- Passmore, Peter
- Montine, Thomas J.
- Rotter, Jerome I.
- Brice, Alexis
- Morgan, Kevin
- Foroud, Tatiana M.
- Kukull, Walter A.
- Hannequin, Didier
- Powell, John F.
- Ritchie, Karen
- Lunetta, Kathryn L.
- Boerwinkle, Eric
- Hiltunen, Mikko
- Martin, Eden R.
- Schmidt, Reinhold
- Rujescu, Dan
- Dartigues, Jean‐François
- Mayeux, Richard
- Tzourio, Christophe
- Nöthen, Markus M.
- Graff, Caroline
- Psaty, Bruce M.
- Haines, Jonathan L.
- Lathrop, Mark
- Pericak‐Vance, Margaret A.
- Launer, Lenore J.
- Farrer, Lindsay A.
- Schellenberg, Gerard D.
- Seshadri, Sudha
- Amouyel, Philippe
- Williams, Julie
- Holmans, Peter A.
- Venue
- Alzheimer's & Dementia
- Publisher
- Wiley
- Published
- 2014-12-19
- Volume
- 11
- Issue
- 6
- Pages
- 658-671
- ISSN
- 1552-5260 (ISSN-L)
- 1552-5279
- PMC
- PMC4672734
- OpenAlex
- W2102416906
- Cited by
- 199
- References
- 43
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 13 · 2023: 11 · 2022: 11 · 2021: 12 · 2020: 18 · 2019: 33 · 2018: 33 · 2017: 24 · 2016: 25 · 2015: 11
- FWCI
- 13.33
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Alzheimer s & Dementia (publishedVersion, other-oa)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, cc-by-nc)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, cc-by-nc-nd)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- Florence Research (University of Florence) (submittedVersion)
- Repository@Nottingham (University of Nottingham) (submittedVersion, cc-by)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Repository@Nottingham (University of Nottingham) (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- Explore Bristol Research (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- Wellcome Trust
- Medical Research Council
- Alzheimer’s Research UK
- National Institutes of Health
- National Institute on Aging
- Fédération pour la Recherche sur le Cerveau
- Labex
- Alzheimer's Association
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- late-onset Alzheimer's disease, immune response
- MeSH terms
- Algorithms, Alzheimer Disease, Brain, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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