ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2024
Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.
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Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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27citing papers in PubMed, 1 pooled it
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease-associated genes in the Hispanic population.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Pooled it
- Stratification by a polygenic risk score of common variation aids in Alzheimer's disease rare variant discovery.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Observational
- Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years old.Journal of Alzheimer's disease : JAD · 2026Article
- Review
- Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications.HGG advances · 2026Article
- Rare coding variants from ADSP R5 whole-genome sequencing implicate novel genes in Alzheimer's disease.Research square · 2026Article
- Interactive effects of telomere length and genetic variants on Alzheimer disease risk across multiple ancestral populations.Alzheimer's research & therapy · 2026Article
- Multiple-testing corrections in case-control studies using identity-by-descent segments.American journal of human genetics · 2026Article
- CRISPRi screening in cultured human astrocytes uncovers distal enhancers controlling genes dysregulated in Alzheimer's disease.Nature neuroscience · 2026Article
- Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection.Journal of Alzheimer's disease : JAD · 2026Article
- The Impact of Structural Variation on Alzheimer's Disease in the Alzheimer's Disease Sequencing Project.Research square · 2026Article
- DRESIS 2.0: the comprehensive landscape of drug resistance information.Nucleic acids research · 2026Article
- Matching Heterogeneous Cohorts by Projected Principal Components Reveals Two Novel Alzheimer's Disease-Associated Genes in the Hispanic Population.medRxiv : the preprint server for health sciences · 2025Article
- CD2AP at the junction of nephropathy and Alzheimer's disease.Molecular neurodegeneration · 2025Review
- Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer's disease and a cumulative effects model for risk liability.Nature communications · 2025Article
- Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Influence of APOE ε4 on performance of CSF biomarkers in differentiating clinical Alzheimer's disease.The journal of prevention of Alzheimer's disease · 2025Article
- Exploring Potential Medications for Alzheimer's Disease with Psychosis by Integrating Drug Target Information into Deep Learning Models: A Data-Driven Approach.International journal of molecular sciences · 2025Article
- Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Blood-derived mitochondrial DNA copy number is associated with Alzheimer disease, Alzheimer-related biomarkers and serum metabolites.Alzheimer's research & therapy · 2024Article
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Authors and funding
35 authors.
Wan-Ping LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Seung Hoan ChoiDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Margaret G SheaBiostatistics and Epidemiology Data Analytics Center, Boston University School of Public Health, Boston, Massachusetts, USA.
Po-Liang ChengDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Beth A DombroskiDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Achilleas N PitsillidesDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Nancy L Heard-CostaDepartment of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
Hui WangDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Katia BulekovaResearch Computing Services, Information Services & Technology, Boston University, Boston, Massachusetts, USA.
Amanda B KuzmaDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Yuk Yee LeungDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
John J FarrellBiomedical Genetics, Department of Medicine, Boston University Medical School, Boston, Massachusetts, USA.
Honghuang LinDepartment of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Brian W KunkleJohn P. Hussman Institute for Human Genomics, Miami, Florida, USA.
Adam NajDepartment of Biostatistics, Epidemiology, and Informatics, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Elizabeth E BlueDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
Frederick NusetorDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Dongyu WangDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Eric BoerwinkleDepartment of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA.
William S BushCleveland Institute for Computational Biology, Cleveland, Ohio, USA.
Xiaoling ZhangDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Philip L De JagerCenter for Translational and Computational Neuroimmunology, Columbia University Medical Center, New York, New York, USA.
Josée DupuisDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Lindsay A FarrerDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Myriam FornageBrown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Eden MartinJohn P. Hussman Institute for Human Genomics, Miami, Florida, USA.
Margaret Pericak-VanceJohn P. Hussman Institute for Human Genomics, Miami, Florida, USA.
Sudha SeshadriGlenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Science Center, San Antonio, Texas, USA.
Ellen M WijsmanDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.
Li-San WangDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Alzheimer's Disease Sequencing Project
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Anita L DestefanoDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Jonathan L HainesCleveland Institute for Computational Biology, Cleveland, Ohio, USA.
Gina M PelosoDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.
Funding
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MTBDU19AG068753 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Lindsay A. Farrer · 2020 to 2026
$42.4MTHE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3MGenome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID, WANG, LI-SAN · 2016 to 2025
$32.8MUniversity of Washington Alzheimer's Disease Research CenterP30AG066509 · NIA · UNIVERSITY OF WASHINGTON · PI Amanda D. Boyd · 2020 to 2026
$29.0MAdditional Sequencing for the Alzheimer Disease Sequencing Project (ADSP) the Follow-Up Study (FUS), The Global Population InitiativeU01AG076482 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Clifton L Dalgard, ANTHONY JOHN GRISWOLD · 2022 to 2026
$26.9MThe Origins of Alzheimer Disease in African AmericansR01AG072547 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Rufus Olusola Akinyemi, GOLDIE S. BYRD · 2022 to 2026
$26.1MRL5: Research Education CoreP30AG072978 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Ann C. McKee · 2021 to 2026
$25.6MResearch Education ComponentP30AG072979 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DAVID A WOLK · 2021 to 2026
$24.8MThe Alzheimer Disease Sequence Analysis CollaborativeU01AG058654 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI BUSH, WILLIAM S, FARRER, LINDSAY A. · 2018 to 2022
$14.6MGenomic Characterization of Alzheimer Disease Risk in Admixed Populations with Native American and Southern European Genetic AncestryR01AG070864 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Margaret A. Pericak-Vance, FARID RAJABLI · 2021 to 2026
$12.1MTherapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approachesU01AG058589 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BOERWINKLE, ERIC A., DE JAGER, PHILIP L · 2018 to 2022
$11.1MNHLBI NIH HHS R01 HL105756NIA NIH HHS P30 AG066509NIA NIH HHS P30 AG072978NIA NIH HHS P30 AG072979NIA NIH HHS R01 AG048927NIA NIH HHS R01 AG070864NIA NIH HHS R01 AG072547NIA NIH HHS R01 AG074328NIA NIH HHS R01 AG080810NIA NIH HHS RF1 AG074328NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG058589NIA NIH HHS U01 AG058654NIA NIH HHS U01 AG062602NIA NIH HHS U01 AG068221NIA NIH HHS U01 AG072577NIA NIH HHS U01 AG076482NIA NIH HHS U01 AG081230NIA NIH HHS U19 AG068753NIA NIH HHS U24 AG041689NIA NIH HHS U54 AG052427
Abstract
introductionAlzheimer's disease (AD) is a common disorder of the elderly that is both highly heritable and genetically heterogeneous.
methodsWe investigated the association of AD with both common variants and aggregates of rare coding and non-coding variants in 13,371 individuals of diverse ancestry with whole genome sequencing (WGS) data.
resultsPooled-population analyses of all individuals identified genetic variants at apolipoprotein E (APOE) and BIN1 associated with AD (p < 5 × 10 DISCUSSION: We observed that complementary pooled-population and subgroup-specific analyses offered unique insights into the genetic architecture of AD. HIGHLIGHTS: We determine the association of genetic variants with Alzheimer's disease (AD) using 13,371 individuals of diverse ancestry with whole genome sequencing (WGS) data. We identified genetic variants at apolipoprotein E (APOE), BIN1, PSEN1, and LINC00320 associated with AD. We observed rare non-coding variants in the promoter of TOMM40 distinct of APOE.
Indexed as
Alzheimer DiseaseApolipoproteins EWhole Genome SequencingAdaptor Proteins, Signal TransducingAgedFemaleGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansMaleMembrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsNuclear ProteinsPresenilin-1Tumor Suppressor ProteinsAdaptor Proteins, Signal TransducingApolipoproteins EBIN1 protein, humanMembrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsNuclear ProteinsPresenilin-1PSEN1 protein, humanTOMM40 protein, humanTumor Suppressor ProteinsAlzheimer's diseasegeneticsrare genetic variantswhole genome sequencing
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