SynthesisGenome biology2021
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Genome biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 9 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed, 9 pooled it
8.1field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
63 citing papers in PubMed, 9 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- The aging epigenome: integrative analyses reveal intersection with Alzheimer's disease.GeroScience · 2026Pooled it
- Epigenome-wide association study, meta-analysis, and multiscore profiling of whole blood in Parkinson's disease.Annals of clinical and translational neurology · 2025Pooled it
- Sensogenomics of music and Alzheimer's disease: An interdisciplinary view from neuroscience, transcriptomics, and epigenomics.Frontiers in aging neuroscience · 2023Pooled it
- Disease classification for whole-blood DNA methylation: Meta-analysis, missing values imputation, and XAI.GigaScience · 2022Pooled it
- Distinct sex-specific DNA methylation differences in Alzheimer's disease.Alzheimer's research & therapy · 2022Pooled it
- Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology.Nature communications · 2022Pooled it
- Cross-tissue analysis of blood and brain epigenome-wide association studies in Alzheimer's disease.Nature communications · 2022Pooled it
- Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.Science translational medicine · 2022Pooled it
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders.Genome biology · 2021Pooled it
- Circulating Cell-Free DNA Methylation Profiling Enables Detection, Distinction, and Estrogen Receptor Status Classification of Advanced Breast Cancer.Cancer research · 2026Article
- Co- and Multi-Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.BMJ open · 2026Article
- FKBP51 inhibition by SAFit2 modulates tau pathology and cognitive deficits in PS19 mice.Alzheimer's research & therapy · 2026Article
- Age-varying DNA methylation patterns associated with blood pressure in mid-to-late adulthood.Clinical epigenetics · 2026Article
- DNA methylation signature of cognitive reserve moderates CSF tau pathology in prodromal Alzheimer's disease.Research square · 2026Article
- Age-varying DNA methylation patterns associated with blood pressure across the lifespan.bioRxiv : the preprint server for biology · 2025Article
- Exploration and validation of biomarkers for Alzheimer's disease based on GEO database.IBRO neuroscience reports · 2025Article
- Association of blood-based DNA methylation of lncRNAs with Alzheimer's disease diagnosis.Clinical epigenetics · 2025Article
- DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnostics.Clinical epigenetics · 2025Review
- Exploring the relationship between methylation of the cortisol receptor genes and brain and cognitive outcomes in individuals with elevated amyloid-β.Research square · 2025Article
3 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
72 authors at 20 institutions in 10 countries.
Marta F NabaisInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Simon M LawsSchool of Medical and Health Sciences, Edith Cowan University, 270 Joondalup Dr, Joondalup, WA, 6027, Australia.
Tian LinInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Costanza L VallergaInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Nicola J ArmstrongMurdoch University, 90 South St, Murdoch, WA, 6150, Australia.
Ian P BlairAustralian Centre for Precision Health, University of South Australia Cancer Research Institute, School of Health Sciences, University of South Australia, Adelaide, SA, 5001, Australia.
John B KwokBrain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
Karen A MatherCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, NSW, 2031, Australia.
George D MellickGriffith Institute for Drug Discovery (GRIDD), Griffith University, Brisbane, Australia.
Perminder S SachdevCentre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Sydney, NSW, 2031, Australia.
Leanne WallaceInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Anjali K HendersInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Ramona A J ZwambornDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Paul J HopDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Katie LunnonUniversity of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Ehsan PishvaUniversity of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Janou A Y RoubroeksUniversity of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Hilkka SoininenInstitute of Clinical Medicine, Neurology, University of Eastern Finland, Kuopio, Finland.
Magda Tsolaki1st Department of Neurology, Memory and Dementia Unit, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Patrizia MecocciDepartment of Medicine, Institute of Gerontology and Geriatrics, University of Perugia, Perugia, Italy.
Simon LovestoneDepartment of Psychiatry, Warneford Hospital, University of Oxford, Oxford, UK.
Iwona KłoszewskaMedical University of Lodz, Lodz, Poland.
Bruno VellasINSERM U 558, University of Toulouse, Toulouse, France.
Australian Imaging Biomarkers and Lifestyle study
Alzheimer’s Disease Neuroimaging Initiative
Sarah FurlongCentre for Motor Neuron Disease Research, Macquarie University, Sydney, NSW, 2109, Australia.
Fleur C GartonInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Robert D HendersonQueensland Brain Institute, The University of Queensland, Brisbane, QLD, 4072, Australia.
Susan MathersCalvary Health Care Bethlehem, Parkdale, VIC, 3195, Australia.
Pamela A McCombeCentre for Clinical Research, The University of Queensland, Brisbane, QLD, 4019, Australia.
Merrilee NeedhamFiona Stanley Hospital, Perth, WA, 6150, Australia.
Shyuan T NgoQueensland Brain Institute, The University of Queensland, Brisbane, QLD, 4072, Australia.
Garth NicholsonANZAC Research Institute, Concord Repatriation General Hospital, Sydney, NSW, 2139, Australia.
Roger PamphlettDiscipline of Pathology and Department of Neuropathology, Brain and Mind Centre, The University of Sydney, Sydney, NSW, 2050, Australia.
Dominic B RoweCentre for Motor Neuron Disease Research, Macquarie University, Sydney, NSW, 2109, Australia.
Frederik J SteynDepartment of Neurology, Royal Brisbane and Women's Hospital, Brisbane, QLD, 4029, Australia.
Kelly L WilliamsCentre for Motor Neuron Disease Research, Macquarie University, Sydney, NSW, 2109, Australia.
Tim J AndersonNew Zealand Brain Research Institute, Christchurch, New Zealand.
Steven R BentleyEskitis Institute for Drug Discovery, Griffith University, Brisbane, Australia.
John Dalrymple-AlfordNew Zealand Brain Research Institute, Christchurch, New Zealand.
Javed FowderGriffith Institute for Drug Discovery (GRIDD), Griffith University, Brisbane, Australia.
Jacob GrattenMater Research, Translational Research Institute, Brisbane, Australia.
Glenda HallidayBrain and Mind Research Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
Ian B HickieBrain and Mind Research Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
Martin KennedyDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Simon J G LewisBrain and Mind Research Centre, Sydney Medical School, The University of Sydney, Sydney, Australia.
Grant W MontgomeryInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
John PearsonDepartment of Pathology, University of Otago, Christchurch, New Zealand.
Toni L PitcherNew Zealand Brain Research Institute, Christchurch, New Zealand.
Peter SilburnQueensland Brain Institute, The University of Queensland, Brisbane, QLD, 4072, Australia.
Futao ZhangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Peter M VisscherInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Jian YangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Anna J StevensonCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Robert F HillaryCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Riccardo E MarioniCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Sarah E HarrisDepartment of Psychology, Lothian Birth Cohorts group, University of Edinburgh, 7 George Square, Edinburgh, EH8 9JZ, UK.
Ian J DearyDepartment of Psychology, Lothian Birth Cohorts group, University of Edinburgh, 7 George Square, Edinburgh, EH8 9JZ, UK.
Ashley R JonesDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 9RX, UK.
Aleksey ShatunovDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 9RX, UK.
Alfredo IacoangeliDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 9RX, UK.
Wouter van RheenenDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Leonard H van den BergDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Pamela J ShawSITraN, University of Sheffield, Sheffield, UK.
Cristopher E ShawDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 9RX, UK.
Karen E MorrisonQueen's University Belfast, Belfast, Northern Ireland, UK.
Ammar Al-ChalabiDepartment of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, SE5 9RX, UK.
Jan H VeldinkDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Eilis HannonUniversity of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Jonathan MillUniversity of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK.
Naomi R WrayInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Allan F McRaeInstitute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia. a.mcrae@uq.edu.au.
The University of Queensland · AUKing's College London · GBThe University of Sydney · AUGriffith University · AUUniversity of Edinburgh · GBUtrecht University · NLAristotle University of Thessaloniki · GREdith Cowan University · AUInserm · FRQueen's University Belfast · GBUniversity of Eastern Finland · FIConcord Repatriation General Hospital · AUFiona Stanley Hospital · AUMacquarie University · AUMedical University of Lodz · PLMurdoch University · AUNew Zealand Brain Research Institute · NZTranslational Research Institute · AUUniversity of Exeter · GBUniversity of Perugia · IT
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
$119.8MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MCollaborative GWAS of Dementia, AD and related MRI and Cognitive EndophenotypesR01AG033193 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI SESHADRI, SUDHA · 2009 to 2016
$4.4MDepartment of HealthMedical Research Council 503480Medical Research Council MR/R024804/1Motor Neurone Disease Association TURNER/OCT15/972-797NHLBI NIH HHS R01 HL105756NIA NIH HHS R01 AG033193NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG032984NIA NIH HHS U24 AG021886Wellcome TrustWellcome Trust 082604/2/07/ZWellcome Trust 108890/Z/15/Z
Abstract
backgroundPeople with neurodegenerative disorders show diverse clinical syndromes, genetic heterogeneity, and distinct brain pathological changes, but studies report overlap between these features. DNA methylation (DNAm) provides a way to explore this overlap and heterogeneity as it is determined by the combined effects of genetic variation and the environment. In this study, we aim to identify shared blood DNAm differences between controls and people with Alzheimer's disease, amyotrophic lateral sclerosis, and Parkinson's disease.
resultsWe use a mixed-linear model method (MOMENT) that accounts for the effect of (un)known confounders, to test for the association of each DNAm site with each disorder. While only three probes are found to be genome-wide significant in each MOMENT association analysis of amyotrophic lateral sclerosis and Parkinson's disease (and none with Alzheimer's disease), a fixed-effects meta-analysis of the three disorders results in 12 genome-wide significant differentially methylated positions. Predicted immune cell-type proportions are disrupted across all neurodegenerative disorders. Protein inflammatory markers are correlated with profile sum-scores derived from disease-associated immune cell-type proportions in a healthy aging cohort. In contrast, they are not correlated with MOMENT DNAm-derived profile sum-scores, calculated using effect sizes of the 12 differentially methylated positions as weights.
conclusionsWe identify shared differentially methylated positions in whole blood between neurodegenerative disorders that point to shared pathogenic mechanisms. These shared differentially methylated positions may reflect causes or consequences of disease, but they are unlikely to reflect cell-type proportion differences.
Indexed as
DNA MethylationEpigenesis, GeneticGenome-Wide Association StudyAllelesBiomarkersBlood CellsCase-Control StudiesDisease SusceptibilityGene Expression ProfilingGenetic LociGenetic Predisposition to DiseaseHumansNeurodegenerative DiseasesBiomarkersDNA methylationInflammatory markersMethylation profile scoreMixed-linear modelsNeurodegenerative disordersOut-of-sample classification
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