SynthesisNature genetics2011
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Open access · greenAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,198 papers, 9 of them syntheses that pooled it.
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1,198citing papers in PubMed, 9 pooled it
95.8field-weighted citation impact, top 1% of its field
What it found
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Who cites it
1,198 citing papers in PubMed, 9 syntheses or guidelines pooled it, 1,999 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
- Alzheimer disease is (sometimes) highly heritable: Drivers of variation in heritability estimates for binary traits, a systematic review.PLoS genetics · 2025Pooled it
- Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease.Genome biology · 2025Pooled it
- Pooled it
- Systematic review and meta-analysis of the association betweenFrontiers in aging neuroscience · 2024Pooled it
- A haptoglobin (HP) structural variant alters the effect of APOE alleles on Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Pooled it
- Interaction Analysis Reveals Complex Genetic Associations with Alzheimer's Disease in theGenes · 2023Pooled it
- A genome-wide search for pleiotropy in more than 100,000 harmonized longitudinal cognitive domain scores.Molecular neurodegeneration · 2023Pooled it
- African ancestry GWAS of dementia in a large military cohort identifies significant risk loci.Molecular psychiatry · 2023Pooled it
- Preclinical and first-in-human evaluation of AL002, a novel TREM2 agonistic antibody for Alzheimer's disease.Alzheimer's research & therapy · 2024Trial
- Potential links between PCOS/PMOS and Alzheimer disease and related dementias.Journal of the Endocrine Society · 2026Review
- The Alzheimer's Disease-associated gene CD2AP regulates permeability of endothelial cells and transendothelial migration of immune cells.bioRxiv : the preprint server for biology · 2026Article
- Alzheimer's Disease in the Era of Geroscience: Mechanisms, Biomarkers, and Therapeutic Prospects.Cells · 2026Review
- A multiancestry polygenic risk score for Alzheimer's disease is associated with cognitive decline and neuropathological hallmarks in diverse populations.Nature genetics · 2026Article
- Predicting accumulation and age at onset of amyloid-β from genetic risk and resilience for Alzheimer's disease.EBioMedicine · 2026Article
- MS4A4A promotes macrophages M2 polarization via NF-κB /JAK-STAT6 axis, resulting GBM malignant progression.Oncogene · 2026Article
- Bridging autophagy and endolysosomal dysfunction: Role of bridging integrator 1 in Alzheimer's disease.Neural regeneration research · 2026Article
- Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Omics-driven strategies for identifying biomarkers in Alzheimer's disease.Metabolic brain disease · 2026Review
- Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias.medRxiv : the preprint server for health sciences · 2026Article
1,138 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
155 authors at 20 institutions in 4 countries.
Adam C NajThe John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
Gyungah Jun
Gary W Beecham
Li-San Wang
Badri Narayan Vardarajan
Jacqueline Buros
Paul J Gallins
Joseph D Buxbaum
Gail P Jarvik
Paul K Crane
Eric B Larson
Thomas D Bird
Bradley F Boeve
Neill R Graff-Radford
Philip L De Jager
Denis Evans
Julie A Schneider
Minerva M Carrasquillo
Nilufer Ertekin-Taner
Steven G Younkin
Carlos Cruchaga
John S K Kauwe
Petra Nowotny
Patricia Kramer
John Hardy
Matthew J Huentelman
Amanda J Myers
Michael M Barmada
F Yesim Demirci
Clinton T Baldwin
Robert C Green
Ekaterina Rogaeva
Peter St George-Hyslop
Steven E Arnold
Robert Barber
Thomas Beach
Eileen H Bigio
James D Bowen
Adam Boxer
James R Burke
Nigel J Cairns
Chris S Carlson
Regina M Carney
Steven L Carroll
Helena C Chui
David G Clark
Jason Corneveaux
Carl W Cotman
Jeffrey L Cummings
Charles DeCarli
Steven T DeKosky
Ramon Diaz-Arrastia
Malcolm Dick
Dennis W Dickson
William G Ellis
Kelley M Faber
Kenneth B Fallon
Martin R Farlow
Steven Ferris
Matthew P Frosch
Douglas R Galasko
Mary Ganguli
Marla Gearing
Daniel H Geschwind
Bernardino Ghetti
John R Gilbert
Sid Gilman
Bruno Giordani
Jonathan D Glass
John H Growdon
Ronald L Hamilton
Lindy E Harrell
Elizabeth Head
Lawrence S Honig
Christine M Hulette
Bradley T Hyman
Gregory A Jicha
Lee-Way Jin
Nancy Johnson
Jason Karlawish
Anna Karydas
Jeffrey A Kaye
Ronald Kim
Edward H Koo
Neil W Kowall
James J Lah
Allan I Levey
Andrew P Lieberman
Oscar L Lopez
Wendy J Mack
Daniel C Marson
Frank Martiniuk
Deborah C Mash
Eliezer Masliah
Wayne C McCormick
Susan M McCurry
Andrew N McDavid
Ann C McKee
Marsel Mesulam
Bruce L Miller
Carol A Miller
Joshua W Miller
Joseph E Parisi
Daniel P Perl
Elaine Peskind
Ronald C Petersen
Wayne W Poon
Joseph F Quinn
Ruchita A Rajbhandary
Murray Raskind
Barry Reisberg
John M Ringman
Erik D Roberson
Roger N Rosenberg
Mary Sano
Lon S Schneider
William Seeley
Michael L Shelanski
Michael A Slifer
Charles D Smith
Joshua A Sonnen
Salvatore Spina
Robert A Stern
Rudolph E Tanzi
John Q Trojanowski
Juan C Troncoso
Vivianna M Van Deerlin
Harry V Vinters
Jean Paul Vonsattel
Sandra Weintraub
Kathleen A Welsh-Bohmer
Jennifer Williamson
Randall L Woltjer
Laura B Cantwell
Beth A Dombroski
Duane Beekly
Kathryn L Lunetta
Eden R Martin
M Ilyas Kamboh
Andrew J Saykin
Eric M Reiman
David A Bennett
John C Morris
Thomas J Montine
Alison M Goate
Deborah Blacker
Debby W Tsuang
Hakon Hakonarson
Walter A Kukull
Tatiana M Foroud
Jonathan L Haines
Richard Mayeux
Margaret A Pericak-Vance
Lindsay A Farrer
Gerard D Schellenberg
University of Washington · USBoston University · USUniversity of Pennsylvania · USUniversity of Miami · USIndiana University – Purdue University Indianapolis · USUniversity of Alabama at Birmingham · USUniversity of Pittsburgh · USColumbia University · USUniversity of California, Irvine · USEmory University · USNorthwestern University · USOregon Health & Science University · USUniversity of California, Davis · USUniversity of California, Los Angeles · USUniversity of California, San Francisco · USUniversity of Southern California · USDr. John T. Macdonald Foundation · USDuke University · USHarvard University · USHope Center for Neurological Disorders · 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
$116.2MRECRUITMENT COREU19AG010483 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FELDMAN, HOWARD · 2013 to 2020
$80.6MNATIONAL 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 Tammie Lee Smith Benzinger · 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 JAYADEY, SUMAN · 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 MORRIS, JOHN · 1985 to 2019
$52.1MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1MCIHRHoward Hughes Medical InstituteMedical Research Council G0701075Medical Research Council MC_G1000734Medical Research Council MC_G1000735NCI NIH HHS R01 CA129769NCI NIH HHS U54 CA132378NCI NIH HHS U54 CA137788NCRR NIH HHS M01 RR000096NCRR NIH HHS MO1RR00096NCRR NIH HHS UL1 RR025741NCRR NIH HHS UL1RR02777NCRR NIH HHS UL1 RR029893NHGRI NIH HHS R01 HG002213NHGRI NIH HHS R01 HG02213NHGRI NIH HHS U01 HG004610NHGRI NIH HHS U01 HG006375NHGRI NIH HHS UO1 HG004610NIA NIH HHS AG010491NIA NIH HHS AG019757NIA NIH HHS AG021547NIA NIH HHS AG025688NIA NIH HHS AG027944NIA NIH HHS K01 AG030514NIA NIH HHS K24 AG027841NIA 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 AG005131NIA NIH HHS P50 AG005133NIA NIH HHS P50 AG005134NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG005142NIA 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 AG009029NIA 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 AG023801NIA 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 AG031278NIA NIH HHS R01 AG031581NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG034504NIA NIH HHS R01 AG037212NIA NIH HHS R01 AG041797NIA NIH HHS R01 AG15819NIA NIH HHS R01 AG17917NIA NIH HHS R01 AG30146NIA NIH HHS R37 AG015473NIA NIH HHS RC2 AG036528NIA NIH HHS RC2 AG036535NIA 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 U19 AG010483NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG026390NIA NIH HHS U24 AG026395NIA NIH HHS U24 AG056270NIA NIH HHS UO1 AG06781NIMH NIH HHS R01 MH080295NINDS NIH HHS R01 NS059873Wellcome Trust 081864Wellcome Trust 089703
Abstract
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two replication stages (stages 2 and 3). Both joint analysis and meta-analysis approaches were used. We obtained genome-wide significant results at MS4A4A (rs4938933; stages 1 and 2, meta-analysis P (P(M)) = 1.7 × 10(-9), joint analysis P (P(J)) = 1.7 × 10(-9); stages 1, 2 and 3, P(M) = 8.2 × 10(-12)), CD2AP (rs9349407; stages 1, 2 and 3, P(M) = 8.6 × 10(-9)), EPHA1 (rs11767557; stages 1, 2 and 3, P(M) = 6.0 × 10(-10)) and CD33 (rs3865444; stages 1, 2 and 3, P(M) = 1.6 × 10(-9)). We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.
Indexed as
Adaptor Proteins, Signal TransducingAgedAged, 80 and overAge of OnsetAlzheimer DiseaseAntigens, CDAntigens, Differentiation, MyelomonocyticCohort StudiesCytoskeletal ProteinsDatabases, GeneticFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMaleAdaptor Proteins, Signal TransducingAntigens, CDAntigens, Differentiation, MyelomonocyticCD2-associated proteinCD33 protein, humanCytoskeletal ProteinsMembrane ProteinsReceptor, EphA1Sialic Acid Binding Ig-like Lectin 3
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