ArticleMolecular psychiatry2020
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Molecular psychiatry, 2020. 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 168 papers, 9 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
168citing papers in PubMed, 9 pooled it
18.8field-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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
168 citing papers in PubMed, 9 syntheses or guidelines pooled it, 265 citations in OpenAlex.
- Improving reproducibility of differentially expressed genes in single-cell transcriptomic studies of neurodegenerative diseases through meta-analysis.Nature communications · 2025Pooled it
- GhostKnockoff inference empowers identification of putative causal variants in genome-wide association studies.Nature communications · 2022Pooled it
- Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer's disease-associated genes: DTNB and DLG2.Molecular psychiatry · 2022Pooled it
- The Amyloid-β Pathway in Alzheimer's Disease.Molecular psychiatry · 2021Pooled it
- Microglial Phagocytosis: A Disease-Associated Process Emerging from Alzheimer's Disease Genetics.Trends in neurosciences · 2020Pooled it
- Interpretation of risk loci from genome-wide association studies of Alzheimer's disease.The Lancet. Neurology · 2020Pooled it
- Imaging Alzheimer's genetic risk using diffusion MRI: A systematic review.NeuroImage. Clinical · 2020Pooled it
- Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.Movement disorders : official journal of the Movement Disorder Society · 2019Pooled it
- Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nature genetics · 2019Pooled it
- Artificial Intelligence for Alzheimer's Disease Diagnosis: From Traditional Machine Learning to Large Language Models.Biosensors · 2026Review
- PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.Nature genetics · 2026Article
- Robust Inference With Ghostknockoffs in Genome-Wide Association Studies With Sample Relatedness.Genetic epidemiology · 2026Article
- CIT-Lasso: a scalable approach beyond guilty by association for identifying causal variants from genome-wide summary statistics.Genome biology · 2026Article
- Large-scale proteomic analyses before depression diagnosis reveal novel pathophysiological insights.Molecular psychiatry · 2026Article
- Comprehensive adjudication identifies 111 high-confidence loci for Alzheimer's disease and related dementias.medRxiv : the preprint server for health sciences · 2026Article
- Novel Frameshift Variant in SORL1 Gene Identified in a EOAD Family Causes APP Sorting Dysfunction and Endolysosomal Swelling.Molecular neurobiology · 2026Article
- Lifestyle shapes preclinical social and microglial deficits in an Alzheimer's disease mouse model.Molecular psychiatry · 2026Article
- Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications.HGG advances · 2026Article
- Non-microglial downregulation ofbioRxiv : the preprint server for biology · 2026Article
- Population-scale burden analysis of rare damaging coding variants identifies novel risk genes for Alzheimer's disease and Parkinson's disease.medRxiv : the preprint server for health sciences · 2026Article
108 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
101 authors at 20 institutions in 7 countries.
Joshua C Bis *Department of Medicine (General Internal Medicine), University of Washington, Seattle, WA, USA.
Xueqiu Jian *Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Brian W Kunkle *John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Yuning Chen *Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7358-7055
Kara L Hamilton-NelsonJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
William S BushCase Western Reserve University, Cleveland Heights, OH, USA.
William J SalernoHuman Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Daniel LancourDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7266-1022
Yiyi MaDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
Alan E RentonDepartment of Neuroscience and Ronald M Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-6702-8268
Edoardo MarcoraDepartment of Neuroscience and Ronald M Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
John J FarrellDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
Yi ZhaoUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Liming QuUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Shahzad AhmadErasmus University Medical Center, Rotterdam, Netherlands.
Najaf AminInserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France.
Philippe AmouyelInserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France.ORCID http://orcid.org/0000-0001-9088-234X
Gary W BeechamJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Jennifer E BelowDepartment of Medical Genetics, Vanderbilt University Medical Center, Nashville, TN, USA.
Dominique CampionDepartment of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Laura CantwellUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Camille CharbonnierDepartment of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Jaeyoon ChungDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0002-6431-9454
Paul K CraneDepartment of Medicine (General Internal Medicine), University of Washington, Seattle, WA, USA.
Carlos CruchagaDepartment of Psychiatry, Washington University, St. Louis, MO, USA.
L Adrienne CupplesDepartments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Jean-François DartiguesUniversity of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000, Bordeaux, France.
Stéphanie DebetteUniversity of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000, Bordeaux, France.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine, Institut François Jacob, Direction de le Recherche Fondamentale, CEA, Evry, France.
Lucinda FultonMcDonnell Genome Institute, Washington University, St. Louis, MO, USA.
Stacey B GabrielBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Emmanuelle GeninInserm UMR-1078, CHRU Brest, Université Brest, Brest, France.
Richard A GibbsHuman Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Alison GoateDepartment of Neuroscience and Ronald M Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-0576-2472
Benjamin Grenier-BoleyInserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France.
Namrata GuptaBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Jonathan L HainesCase Western Reserve University, Cleveland Heights, OH, USA.
Aki S HavulinnaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Seppo HelisalmiInstitute of Clinical Medicine - Neurology and Department of Neurology, University of Eastern Finland, Kuopio, Finland.
Mikko HiltunenInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland.
Daniel P HowriganProgram in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
M Arfan IkramErasmus University Medical Center, Rotterdam, Netherlands.ORCID http://orcid.org/0000-0003-0372-8585
Jaakko KaprioInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-3716-2455
Jan KonradDepartment of Psychiatry, Washington University, St. Louis, MO, USA.
Amanda KuzmaUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Eric S LanderBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark LathropMcGill University and Génome Québec Innovation Centre, Montréal, Canada.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.
Honghuang LinDepartment of Medicine (Computational Biomedicine), Boston University School of Medicine, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3043-3942
Kari MattilaDepartment of Clinical Chemistry, Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere, Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.
Richard MayeuxColumbia University, New York, NY, USA.
Donna M MuznyHuman Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Waleed NasserHuman Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Benjamin NealeProgram in Medical and Population Genetics and Genetic Analysis Platform, Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Kwangsik NhoIndiana University School of Medicine, Indianapolis, IN, USA.
Gaël NicolasDepartment of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.ORCID http://orcid.org/0000-0001-9391-7800
Devanshi PatelDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Markus PerolaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Bruce M PsatyDepartment of Medicine (General Internal Medicine), University of Washington, Seattle, WA, USA.
Olivier QuenezDepartment of Genetics and CNR-MAJ, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Farid RajabliJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Richard RedonInserm, CNRS, Univ. Nantes, CHU Nantes, l'institut du thorax, Nantes, France.
Christiane ReitzColumbia University, New York, NY, USA.
Anne M RemesInstitute of Clinical Medicine - Neurology and Department of Neurology, University of Eastern Finland, Kuopio, Finland.
Veikko SalomaaNational Institute for Health and Welfare, Helsinki, Finland.
Chloe SarnowskiDepartments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Helena SchmidtDepartment of Neurology, Clinical Division of Neurogeriatrics, Medical University of Graz, Graz, Austria.
Michael SchmidtJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Reinhold SchmidtDepartment of Neurology, Clinical Division of Neurogeriatrics, Medical University of Graz, Graz, Austria.
Hilkka SoininenInstitute of Clinical Medicine - Neurology and Department of Neurology, University of Eastern Finland, Kuopio, Finland.
Timothy A ThorntonDepartment of Statistics, University of Washington, Seattle, WA, USA.
Giuseppe TostoColumbia University, New York, NY, USA.
Christophe TzourioUniversity of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, F-33000, Bordeaux, France.
Sven J van der LeeErasmus University Medical Center, Rotterdam, Netherlands.ORCID http://orcid.org/0000-0003-1606-8643
Cornelia M van DuijnErasmus University Medical Center, Rotterdam, Netherlands.
Otto ValladaresUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Badri VardarajanColumbia University, New York, NY, USA.
Li-San WangUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Weixin WangUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Ellen WijsmanDepartment of Medicine (Medical Genetics), University of Washington, Seattle, WA, USA.
Richard K WilsonMcDonnell Genome Institute, Washington University, St. Louis, MO, USA.
Daniela WittenDepartment of Statistics, University of Washington, Seattle, WA, USA.
Kim C WorleyHuman Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Xiaoling ZhangDepartments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Alzheimer’s Disease Sequencing Project
Celine BellenguezInserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France.ORCID http://orcid.org/0000-0002-1240-7874
Jean-Charles LambertInserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France.ORCID http://orcid.org/0000-0003-0829-7817
Mitja I KurkiInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Mark DalyBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Eric BoerwinkleHuman Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kathryn L LunettaDepartments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9268-810X
Anita L DestefanoDepartments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Josée DupuisDepartments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Eden R MartinJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Gerard D SchellenbergUniversity of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Sudha SeshadriNational Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA, USA.
Adam C Naj *University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-9621-2942
Myriam Fornage *Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Lindsay A Farrer *Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA. farrer@bu.Edu.
Boston University · USInserm · FRBroad Institute · USUniversity of Pennsylvania · USUniversity of Miami · USBaylor College of Medicine · USUniversity of Washington · USColumbia University · USErasmus MC · NLUniversity of Eastern Finland · FIUniversity of Helsinki · FIIcahn School of Medicine at Mount Sinai · USUniversité de Bordeaux · FRCase Western Reserve University · USJames S. McDonnell Foundation · USMedical University of Graz · ATTampere University · FIWashington University in St. Louis · USCentre National de la Recherche Scientifique · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FR
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MLarge Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MNational 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
$119.8MNATIONAL 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
$69.5MARIC Neurocognitive Study (ARIC-NCS) Renewal 2023-2028U01HL096812 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI JOSEF CORESH, THOMAS H MOSLEY · 2010 to 2026
$65.7MAlzheimer'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
$57.2MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1MThe natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 2005 to 2025
$49.5MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1MAustrian Science Fund FWF I 904NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003079NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS R01 HL070825NHLBI NIH HHS R01 HL105756NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL096812NHLBI NIH HHS U01 HL096814NHLBI NIH HHS U01 HL096899NHLBI NIH HHS U01 HL096902NHLBI NIH HHS U01 HL096917NHLBI NIH HHS U01 HL130114NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG026276NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG010129NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG013846NIA NIH HHS P30 AG066444NIA NIH HHS P30 AG066509NIA NIH HHS P30 AG066546NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008702NIA NIH HHS R01 AG015928NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG020098NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG025259NIA NIH HHS R01 AG033040NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG048927NIA NIH HHS R01 AG049607NIA NIH HHS R01 AG054060NIA NIH HHS R01 AG054076NIA NIH HHS R01 AG064877NIA NIH HHS R01 AG067501NIA NIH HHS R03 AG054936NIA NIH HHS RF1 AG015473NIA NIH HHS RF1 AG044546NIA NIH HHS RF1 AG053303NIA NIH HHS RF1 AG054023NIA NIH HHS RF1 AG057519NIA NIH HHS RF1 AG066107NIA NIH HHS U01 AG006781NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG049505NIA NIH HHS U01 AG049506NIA NIH HHS U01 AG049507NIA NIH HHS U01 AG049508NIA NIH HHS U01 AG052409NIA NIH HHS U01 AG052410NIA NIH HHS U01 AG052411NIA NIH HHS U01 AG058589NIA NIH HHS U01 AG058635NIA NIH HHS U01 AG058654NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG041689NIA NIH HHS U24 AG056270NIA NIH HHS U54 AG052427NIA NIH HHS UF1 AG047133NIH HHS S10 OD018522NINDS NIH HHS R01 NS017950NLM NIH HHS R01 LM012535
Abstract
The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with genome-wide genotyping imputed to the Haplotype Reference Consortium panel (9,343 cases, 11,527 controls). The top findings in the discovery sample were also followed-up in the ADSP whole-genome sequenced family-based dataset (197 members of 42 EA families and 501 members of 157 CH families). We identified novel and predicted functional genetic variants in genes previously associated with AD. We also detected associations in three novel genes: IGHG3 (p = 9.8 × 10
Indexed as
Exome SequencingAgedAged, 80 and overAlzheimer DiseaseAmyloid beta-PeptidesApolipoproteins EFemaleGene Expression RegulationHaplotypesHumansImmunityImmunoglobulin GKruppel-Like Transcription FactorsMalePolymorphism, GeneticRNA, Long NoncodingAmyloid beta-PeptidesApolipoproteins EImmunoglobulin GKruppel-Like Transcription FactorsRNA, Long NoncodingZNF655 protein, human
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