SynthesisPLoS genetics2014
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.
Erratum issuedOpen access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 237 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
237citing papers in PubMed, 3 pooled it
14.8field-weighted citation impact, top 1% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
237 citing papers in PubMed, 3 syntheses or guidelines pooled it, 371 citations in OpenAlex.
- Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort.PLoS genetics · 2026Pooled it
- Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO.Functional & integrative genomics · 2025Pooled it
- Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.Frontiers in aging neuroscience · 2021Pooled it
- A new era of genome-wide association studies in the field of Alzheimer's disease and overlapping co-pathologies: lessons learned from a neuropathology-centered approach.Acta neuropathologica · 2026Review
- Article
- Neuronal HDAC9: A key regulator of cognitive and synaptic aging, rescuing Alzheimer's disease-related phenotypes.Molecular psychiatry · 2026Article
- Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Local SNP-explained methylation variation reveals genetically anchored and exposure-associated methylation architecture in the human brain.bioRxiv : the preprint server for biology · 2026Article
- Article
- Functional sQTLs regulating PTK2B exon 31 splicing uncover an RNA-dependent modulation of its kinase activity and cellular phenotype.Cell communication and signaling : CCS · 2026Article
- Multi-omics characterization of vascular, neurodegenerative, and mixed neuropathology in the aging human brain.bioRxiv : the preprint server for biology · 2026Article
- Optineurin is a gatekeeper of mitochondrial health and proteostasis in Alzheimer's disease vulnerable neurons.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide association study of social isolation in 63,497 Japanese individuals from the general population.Translational psychiatry · 2026Article
- Article
- Sphingolipids in Emotional Well-Being.Journal of neurochemistry · 2026Review
- Magnesium Ions as Modulators of Voltage-Gated and Ligand-Gated Ion Channels in Central Neurons.International journal of molecular sciences · 2025Review
- The mechanisms underlying TDP-43-associated neurodegeneration in Alzheimer's disease and related dementias.Molecular psychiatry · 2025Review
- Celebrating neuropathology's contributions to Alzheimer's Disease Research Centers.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Alzheimer's disease and its co-pathologies: Implications for hippocampal degeneration, cognitive decline, and the role of APOE ε4.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Peripheral innate immunophenotype in neurodegenerative disease: blood-based profiles and links to survival.Molecular psychiatry · 2025Article
177 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
37 authors at 20 institutions in 2 countries.
Gary W BeechamJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Kara HamiltonJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Adam C NajDivision of Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Eden R MartinJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Matt HuentelmanNeurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America.
Amanda J MyersDepartment of Psychiatry & Behavioral Sciences, University of Miami, Miami, Florida, United States of America.
Jason J CorneveauxNeurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, United States of America.
John HardyDepartment of Molecular Neuroscience, University College London, London, United Kingdom.
Jean-Paul VonsattelNew York Brain Bank, Columbia University, New York, New York, United States of America.
Steven G YounkinDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, United States of America.
David A BennettDepartment of Neurological Sciences, Rush University, Chicago, Illinois, United States of America.
Philip L De JagerDepartment of Neurology and Psychiatry, Brigham and Women's Hospital, Boston, Harvard Medical School, Boston, Massachusetts, United States of America.
Eric B LarsonGroup Health Research Institute, Seattle, Washington, United States of America.
Paul K CraneDepartment of Medicine, University of Washington, Seattle, Washington, United States of America.
M Ilyas KambohDepartment of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, United States of America.
Julia K KoflerDepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States of America.
Deborah C MashDepartment of Neurology, University of Miami, Miami, Florida, United States of America.
Linda DuqueDepartment of Neurology, University of Miami, Miami, Florida, United States of America.
John R GilbertJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Harry GwirtsmanDepartment of Psychiatry, Vanderbilt University, Nashville, Tennessee, United States of America.
Joseph D BuxbaumDepartment of Psychiatry, Mount Sinai Hospital, New York, New York, United States of America.
Patricia KramerDepartment of Neurology, Oregon Health & Science University, Portland, Oregon, United States of America.
Dennis W DicksonDepartment of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, United States of America.
Lindsay A FarrerBiomedical Genetics, Boston University School of Public Health, Boston, Massachusetts, United States of America.
Matthew P FroschC.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Charlestown, Massachusetts, United States of America.
Bernardino GhettiDepartment of Pathology and Laboratory Medicine, Indiana University, Indianapolis, Indiana, United States of America.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America.
Bradley T HymanDepartment of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.
Walter A KukullDepartment of Epidemiology, National Alzheimer's Coordinating Center, University of Washington, Seattle, Washington, United States of America.
Richard P MayeuxDepartment of Neurology, Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, United States of America.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America.
Julie A SchneiderDepartment of Neurological Sciences, Rush University, Chicago, Illinois, United States of America; Department of Pathology (Neuropathology), Rush University Medical Center, Chicago, Illinois, United States of America.
John Q TrojanowskiDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Eric M ReimanArizona Alzheimer's Consortium, Banner Alzheimer's Institute, Phoenix, Arizona, United States of America; Department of Psychiatry, University of Arizona, Phoenix, Arizona, United States of America.
Alzheimer's Disease Genetics Consortium (ADGC)
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Thomas J MontineDepartment of Pathology, University of Washington, Seattle, Washington, United States of America.
University of Miami · USUniversity of Pennsylvania · USUniversity of Washington · USDr. John T. Macdonald Foundation · USMassachusetts General Hospital · USRush University · USTranslational Genomics Research Institute · USUniversity of Pittsburgh · USBank of New York Mellon · USBoston University · USColumbia University · USHarvard University · USIndiana University – Purdue University Indianapolis · USJacksonville College · USKaiser Permanente Washington Health Research Institute · USMayo Clinic in Florida · USMount Sinai Hospital · USOregon Health & Science University · USUniversity College London · GBUniversity of Arizona · US
Funding
Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MTRIAL OF VALPROATE TO ATTENUATE THE PROGRESSION OF ADU01AG010483 · NIA · UNIVERSITY OF ROCHESTER · PI AISEN, PAUL S. · 1991 to 2012
$116.2MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MSmartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5MTDP-43 Loss-of-Function: Biology to BiomarkersP01AG019724 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jennifer Merrilees · 2002 to 2026
$67.2MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MTHERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2MVIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1MSatellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3MMedical Research CouncilNCI NIH HHS R01 CA129769NCI NIH HHS U54 CA132378NCI NIH HHS U54 CA137788NCRR NIH HHS M01 RR000096NCRR NIH HHS MO1RR00096NCRR NIH HHS UL1RR02777NCRR NIH HHS UL1 RR029893NHGRI NIH HHS U01 HG004610NHGRI NIH HHS UO1 HG004610NIA NIH HHS 1R01AG035137NIA NIH HHS 1RC2AG036502NIA NIH HHS 5R01AG012101NIA NIH HHS 5R01AG013616NIA NIH HHS 5R01AG022374NIA NIH HHS AG010491NIA NIH HHS AG019757NIA NIH HHS AG021547NIA NIH HHS AG025688NIA NIH HHS AG027944NIA NIH HHS AG030653NIA NIH HHS AG041232NIA NIH HHS AG05128NIA NIH HHS AG05144NIA NIH HHS K01 AG030514NIA NIH HHS P01 AG002219NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG010491NIA NIH HHS P01 AG019724NIA NIH HHS P01 AG03991NIA NIH HHS P30 AG008017NIA NIH HHS P30 AG008051NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG010129NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG012300NIA NIH HHS P30 AG013846NIA NIH HHS P30 AG013854NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG028377NIA NIH HHS P30 AG028383NIA NIH HHS P30 AG062421NIA NIH HHS P30 AG08051NIA NIH HHS P30 AG10133NIA NIH HHS P50 AG005128NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005133NIA NIH HHS P50 AG005134NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG005142NIA NIH HHS P50 AG005144NIA NIH HHS P50 AG005146NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008671NIA NIH HHS P50 AG008702NIA NIH HHS P50 AG016570NIA NIH HHS P50 AG016573NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG016575NIA NIH HHS P50 AG016576NIA NIH HHS P50 AG016577NIA NIH HHS P50 AG016582NIA NIH HHS P50 AG023501NIA NIH HHS P50 AG025688NIA NIH HHS R01 AG012101NIA NIH HHS R01 AG013616NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017173NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG019085NIA NIH HHS R01 AG019757NIA NIH HHS R01 AG020688NIA NIH HHS R01 AG021547NIA NIH HHS R01 AG022374NIA NIH HHS R01 AG025259NIA NIH HHS R01 AG026390NIA NIH HHS R01 AG026916NIA NIH HHS R01 AG027944NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG030653NIA NIH HHS R01 AG031581NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG034504NIA NIH HHS R01 AG035137NIA NIH HHS R01 AG041232NIA NIH HHS R01 AG041718NIA NIH HHS R01 AG041797NIA NIH HHS R01 AG15819NIA NIH HHS R01 AG17917NIA NIH HHS R01 AG30146NIA NIH HHS R01AG33193NIA NIH HHS R37 AG015473NIA NIH HHS RC2 AG036502NIA NIH HHS RC2 AG036528NIA NIH HHS RC2 AG036535NIA NIH HHS RF1 AG015819NIA NIH HHS U01 AG006781NIA NIH HHS U01 AG010483NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG10483NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG026390NIA NIH HHS U24 AG026395NIA NIH HHS U24 AG056270NIA NIH HHS UO1 AG06781NIMH NIH HHS MH60451NIMH NIH HHS P50 MH060451NIMH NIH HHS R01 MH080295NINDS NIH HHS NS39764NINDS NIH HHS P50 NS039764NINDS NIH HHS R01 NS059873
Abstract
Alzheimer's disease (AD) and related dementias are a major public health challenge and present a therapeutic imperative for which we need additional insight into molecular pathogenesis. We performed a genome-wide association study and analysis of known genetic risk loci for AD dementia using neuropathologic data from 4,914 brain autopsies. Neuropathologic data were used to define clinico-pathologic AD dementia or controls, assess core neuropathologic features of AD (neuritic plaques, NPs; neurofibrillary tangles, NFTs), and evaluate commonly co-morbid neuropathologic changes: cerebral amyloid angiopathy (CAA), Lewy body disease (LBD), hippocampal sclerosis of the elderly (HS), and vascular brain injury (VBI). Genome-wide significance was observed for clinico-pathologic AD dementia, NPs, NFTs, CAA, and LBD with a number of variants in and around the apolipoprotein E gene (APOE). GalNAc transferase 7 (GALNT7), ATP-Binding Cassette, Sub-Family G (WHITE), Member 1 (ABCG1), and an intergenic region on chromosome 9 were associated with NP score; and Potassium Large Conductance Calcium-Activated Channel, Subfamily M, Beta Member 2 (KCNMB2) was strongly associated with HS. Twelve of the 21 non-APOE genetic risk loci for clinically-defined AD dementia were confirmed in our clinico-pathologic sample: CR1, BIN1, CLU, MS4A6A, PICALM, ABCA7, CD33, PTK2B, SORL1, MEF2C, ZCWPW1, and CASS4 with 9 of these 12 loci showing larger odds ratio in the clinico-pathologic sample. Correlation of effect sizes for risk of AD dementia with effect size for NFTs or NPs showed positive correlation, while those for risk of VBI showed a moderate negative correlation. The other co-morbid neuropathologic features showed only nominal association with the known AD loci. Our results discovered new genetic associations with specific neuropathologic features and aligned known genetic risk for AD dementia with specific neuropathologic changes in the largest brain autopsy study of AD and related dementias.
Indexed as
Genome-Wide Association StudyAlzheimer DiseaseATP-Binding Cassette TransportersATP Binding Cassette Transporter, Subfamily G, Member 1BrainCase-Control StudiesChromosome MappingChromosomes, Human, Pair 18Chromosomes, Human, Pair 9DementiaGenetic Predisposition to DiseaseHippocampusHumansN-AcetylgalactosaminyltransferasesOdds RatioPhenotypeABCG1 protein, humanATP-Binding Cassette TransportersATP Binding Cassette Transporter, Subfamily G, Member 1N-Acetylgalactosaminyltransferases
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