ArticlePloS one2019
Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.
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Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21citing papers in PubMed
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21 citing papers in PubMed, 30 citations in OpenAlex.
- Comprehensive characterization of the RNA editing landscape in the human aging brains with Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Single-Cell Transcriptomic Profiling Reveals Regional Differences in the Prefrontal and Entorhinal Cortex of Alzheimer's Disease Brain.International journal of molecular sciences · 2025Article
- Attention-mediated genetic influences on psychotic symptomatology in adolescence.Nature. Mental health · 2024Article
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
- Sex-specific declines in cholinergic-targeting tRNA fragments in the nucleus accumbens in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Sex-specific declines in cholinergic-targeting tRNA fragments in the nucleus accumbens in Alzheimer's disease.bioRxiv : the preprint server for biology · 2023Article
- The neuroimmune axis of Alzheimer's disease.Genome medicine · 2023Review
- Role of Oxysterols in the Activation of the NLRP3 Inflammasome as a Potential Pharmacological Approach in Alzheimer's Disease.Current neuropharmacology · 2023Review
- Physiological or Pathological Molecular Alterations in Brain Aging.International journal of molecular sciences · 2022Article
- Circadian rhythms in neurodegenerative disorders.Nature reviews. Neurology · 2022Review
- Clinical Insights into Mitochondrial Neurodevelopmental and Neurodegenerative Disorders: Their Biosignatures from Mass Spectrometry-Based Metabolomics.Metabolites · 2021Review
- Selective Activation of CNS and ReferenceInternational journal of molecular sciences · 2021Article
- A Likelihood Ratio Test for Gene-Environment Interaction Based on the Trend Effect of Genotype Under an Additive Risk Model Using the Gene-Environment Independence Assumption.American journal of epidemiology · 2021Article
- Genetic variations analysis for complex brain disease diagnosis using machine learning techniques: opportunities and hurdles.PeerJ. Computer science · 2021Article
- Defining functional variants associated with Alzheimer's disease in the induced immune response.Brain communications · 2021Article
- Genetic architecture of Alzheimer's disease.Neurobiology of disease · 2020Review
- A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.Molecular genetics & genomic medicine · 2020Article
- Polygenic risk and pleiotropy in neurodegenerative diseases.Neurobiology of disease · 2020Review
- The multiplex model of the genetics of Alzheimer's disease.Nature neuroscience · 2020Review
- The Expression of CNS-Specific PPARGC1A Transcripts Is Regulated by Hypoxia and a Variable GT Repeat Polymorphism.Molecular neurobiology · 2020Article
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Authors and funding
41 authors at 17 institutions in 8 countries.
Emily BakerMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0001-5691-597X
Rebecca SimsMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Ganna LeonenkoMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Aura FrizzatiMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Janet C HarwoodMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Detelina GrozevaMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0003-3239-8415
GERAD/PERADES
CHARGE
ADGC
EADI
IGAP consortia
Kevin MorganHuman Genetics, School of Life Sciences, Life Sciences Building A27, University Park, University of Nottingham, Nottingham, NG7 2RD, United Kingdom.
Peter PassmoreCentre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queens University, Belfast, United Kingdom.
Clive HolmesDivision of Clinical Neurosciences, School of Medicine, University of Southampton, Southampton, United Kingdom.
John PowellDepartment of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, United Kingdom.
Carol BrayneInstitute of Public Health, University of Cambridge, Cambridge, United Kingdom.ORCID 0000-0001-5307-663X
Michael GillMercer's Institute for Research on Ageing, St. James' Hospital, Dublin, Ireland.
Simon MeadMRC Prion Unit at UCL, Institute of Prion Diseases, London, United Kingdom.ORCID 0000-0002-4326-1468
Paola BossùExperimental Neuropsychobiology Laboratory, IRCCS Santa Lucia Foundation, Department of Clinical and Behavioral Neurology, Rome, Italy.
Gianfranco SpallettaLaboratory of Neuropsychiatry, IRCCS Santa Lucia Foundation, Rome, Italy.
Alison M GoateIcahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Carlos CruchagaDepartment of Psychiatry, Washington University School of Medicine, St Louis, Missouri, United States of America.
Wolfgang MaierGerman Centre for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
Reinhard HeunDepartment of Psychiatry and Psychotherapy, University of Bonn, 53127, Bonn, Germany.
Frank JessenGerman Centre for Neurodegenerative Diseases (DZNE), 53127 Bonn, Germany.
Oliver PetersDepartment of Psychiatry and Psychotherapy, Charité Berlin, Berlin, Germany.
Martin DichgansInstitute for Stroke and Dementia Research, Klinikum der Universität München, Munich, Germany.
Lutz FröLichCentral Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.
Alfredo RamirezDepartment of Psychiatry and Psychotherapy, University of Cologne, 50937 Cologne, Germany.ORCID 0000-0003-4991-763X
Lesley JonesMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
John HardyDepartment of Molecular Neuroscience, UCL, Institute of Neurology, London, United Kingdom.
Dobril IvanovUK Dementia Research Institute at Cardiff University, Cardiff, United Kingdom.ORCID 0000-0001-6271-6301
Matthew HillUK Dementia Research Institute at Cardiff University, Cardiff, United Kingdom.ORCID 0000-0001-6776-8709
Peter HolmansMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.ORCID 0000-0003-0870-9412
Nicholas D AllenUK Dementia Research Institute at Cardiff University, Cardiff, United Kingdom.
B Paul MorganUK Dementia Research Institute at Cardiff University, Cardiff, United Kingdom.
Sudha SeshadriDepartment of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America.
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.ORCID 0000-0003-1115-2475
Philippe AmouyelUniv. Lille, Inserm, CHU Lille University Hospital, Institut Pasteur de Lille, LabEx DISTALZ-UMR1167 - RID-AGE - Risk factors and molecular determinants of aging-related, F-59000 Lille, France.
Julie WilliamsMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
Valentina Escott-PriceMedical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.
UK Dementia Research Institute · GBCardiff University · GBGerman Center for Neurodegenerative Diseases · DEUniversity of Cologne · DEBoston University · USHeidelberg University · DEInserm · FRKing's College London · GBQueen's University Belfast · GBUniversity of Bonn · DEUniversity of Cambridge · GBUniversity of Nottingham · GBFondazione Santa Lucia · ITMercer (Czechia) · CZUniversity of Pennsylvania · USUniversity of Southampton · GBWashington University in St. Louis · US
Funding
National 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
$119.8MPRECURSORS OF STROKE INCIDENCE AND PROGNOSISR01NS017950 · NINDS · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Hugo Javier Aparicio, Jose Rafael Romero · 1985 to 2026
$22.9MADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model SystemsU01AG052409 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI FORNAGE, MYRIAM, SESHADRI, SUDHA · 2016 to 2020
$1.6MMedical Research Council G0300429Medical Research Council G0400074Medical Research Council G0502157Medical Research Council G0600237Medical Research Council G0701075Medical Research Council G0900652Medical Research Council G0901254Medical Research Council G0902227Medical Research Council G1001253Medical Research Council G1100540Medical Research Council MC_PC_17112Medical Research Council MC_U123160651Medical Research Council MC_UP_1604/1Medical Research Council MC_UU_00024/1Medical Research Council MR/J004758/1Medical Research Council MR/K013041/1Medical Research Council MR/K01417X/1Medical Research Council MR/L010305/1Medical Research Council MR/L023784/1Medical Research Council MR/L023784/2Medical Research Council MR/L501517/1Medical Research Council MR/L501542/1Medical Research Council MR/M009076/1Parkinson's UK G-1307Wellcome Trust
Abstract
Late onset Alzheimer's disease is the most common form of dementia for which about 30 susceptibility loci have been reported. The aim of the current study is to identify novel genes associated with Alzheimer's disease using the largest up-to-date reference single nucleotide polymorphism (SNP) panel, the most accurate imputation software and a novel gene-based analysis approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 million genotypes from 17,008 Alzheimer's cases and 37,154 controls. In addition to earlier reported genes, we detected three novel gene-wide significant loci PPARGC1A (p = 2.2 × 10-6), RORA (p = 7.4 × 10-7) and ZNF423 (p = 2.1 × 10-6). PPARGC1A and RORA are involved in circadian rhythm; circadian disturbances are one of the earliest symptoms of Alzheimer's disease. PPARGC1A is additionally linked to energy metabolism and the generation of amyloid beta plaques. RORA is involved in a variety of functions apart from circadian rhythm, such as cholesterol metabolism and inflammation. The ZNF423 gene resides in an Alzheimer's disease-specific protein network and is likely involved with centrosomes and DNA damage repair.
Indexed as
Genome, HumanPolymorphism, Single NucleotideAlzheimer DiseaseAmyloid beta-PeptidesCentrosomeCholesterolCircadian RhythmDNA DamageDNA RepairEnergy MetabolismFemaleGenome-Wide Association StudyHumansInflammationMaleNuclear Receptor Subfamily 1, Group F, Member 1Amyloid beta-PeptidesCholesterolNuclear Receptor Subfamily 1, Group F, Member 1ornithine decarboxylase antizymePeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaPPARGC1A protein, humanProteinsRORA protein, human
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