ArticleNature genetics2021
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation.
Open access · bronzeAbstract read
In one paragraph
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 329 papers, 18 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
329citing papers in PubMed, 18 pooled it
33.4field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
329 citing papers in PubMed, 18 syntheses or guidelines pooled it, 518 citations in OpenAlex.
- Childhood internalising symptoms at ages 3 and 6: a meta-analysis of epigenome-wide associations from cord and peripheral blood.Journal of child psychology and psychiatry, and allied disciplines · 2026Pooled it
- Identification of potential diagnostic and therapeutic apoptosis-related casual targets for osteoporosis: an integrated multi-omics analysis.Journal of bone and mineral metabolism · 2026Pooled it
- Paediatric DNA methylation profile scores: a systematic review and open-source atlas.EBioMedicine · 2026Pooled it
- The aging epigenome: integrative analyses reveal intersection with Alzheimer's disease.GeroScience · 2026Pooled it
- Breastfeeding association with DNA methylation in the pregnancy and childhood epigenetics (PACE) consortium.Clinical epigenetics · 2026Pooled it
- Epigenome-wide association study of circulating interleukin-6 connects DNA methylation to immunometabolic and inflammatory health.Communications biology · 2026Pooled it
- DNA methylation of genes involved in lipid metabolism drives adiponectin levels and metabolic disease.Diabetologia · 2026Pooled it
- Pooled it
- Molecular Effects of Physical Activity and Body Composition: A Systematic Review and Meta-Analysis.International journal of environmental research and public health · 2025Pooled it
- Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium.Genome medicine · 2025Pooled it
- Associations of maternal night shift work during pregnancy with DNA methylation in offspring: a meta-analysis in the PACE consortium.Clinical epigenetics · 2025Pooled it
- Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts.Genome medicine · 2024Pooled it
- Animal and plant protein intake during infancy and childhood DNA methylation: a meta-analysis in the NutriPROGRAM consortium.Epigenetics · 2024Pooled it
- Examining the potential causal relationships among smoking behaviors, blood DNA methylation profiles, and the development of coronary heart disease and myocardial infarction.Clinical epigenetics · 2024Pooled it
- Genome-Wide Search for Nonadditive Allele Effects IdentifiesJournal of the American Heart Association · 2024Pooled it
- Maternal age is related to offspring DNA methylation: A meta-analysis of results from the PACE consortium.Aging cell · 2024Pooled it
- Genome- and epigenome-wide association studies identify susceptibility of CpG sites and regions for metabolic syndrome in a Korean population.Clinical epigenetics · 2024Pooled it
- Epigenome-wide association study of dietary fatty acid intake.Clinical epigenetics · 2024Pooled it
- Effects of 6-months of SSRI use on DNA-methylation and gene expression in blood.Brain, behavior, and immunity · 2026Trial
- Machine learning and statistical methods for molecular quantitative trait loci.Nature reviews. Genetics · 2026Review
269 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
157 authors at 20 institutions in 20 countries.
Josine L Min *MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. josine.min@bristol.ac.uk.ORCID http://orcid.org/0000-0003-4456-9824
Gibran Hemani *MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0003-0920-1055
Eilis HannonUniversity of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.ORCID http://orcid.org/0000-0001-6840-072X
Koen F DekkersMolecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands.
Juan Castillo-FernandezDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-0034-8029
René LuijkMolecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands.
Elena Carnero-MontoroDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Daniel J LawsonMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-5311-6213
Kimberley BurrowsMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-3208-0389
Matthew SudermanMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Andrew D BretherickMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-9258-3140
Tom G RichardsonMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-7918-2040
Johanna KlughammerCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Valentina IotchkovaMRC Weatherall Institute of Molecular Medicine, Oxford, UK.ORCID http://orcid.org/0000-0001-5057-0210
Gemma SharpMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0003-2906-4035
Ahmad Al KhleifatDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London, UK.ORCID http://orcid.org/0000-0002-7406-9831
Aleksey ShatunovDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Alfredo IacoangeliDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Wendy L McArdlePopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-0605-5403
Karen M HoPopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Ashish KumarInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Cilla SöderhällDepartment of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Carolina Soriano-TárragaNeurology Department, Hospital del Mar, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.ORCID http://orcid.org/0000-0002-5635-273X
Eva Giralt-SteinhauerNeurology Department, Hospital del Mar, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.
Nabila KazmiMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Dan MasonBradford Institute for Health Research, Bradford, UK.ORCID http://orcid.org/0000-0002-0026-9216
Allan F McRaeInstitute for Molecular Bioscience, University of Queensland, Brisbane, Australia.ORCID http://orcid.org/0000-0001-5286-5485
David L CorcoranCenter for Genomic and Computational Biology, Duke University, Durham, NC, USA.ORCID http://orcid.org/0000-0001-7460-9247
Karen SugdenCenter for Genomic and Computational Biology, Duke University, Durham, NC, USA.
Silva KaselaEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0003-4362-0034
Alexia CardonaMRC Epidemiology Unit, School of Clinical Medicine, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.
Felix R DayMRC Epidemiology Unit, School of Clinical Medicine, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-3789-7651
Giovanni CugliariDepartment of Medical Sciences, University of Turin, Turin, Italy.
Clara VibertiDepartment of Medical Sciences, University of Turin, Turin, Italy.
Simonetta GuarreraDepartment of Medical Sciences, University of Turin, Turin, Italy.ORCID http://orcid.org/0000-0003-4400-1817
Michael LerroDalla Lana School of Public Health, University of Toronto, Toronto, Canada.
Richa GuptaInstitute for Molecular Medicine, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0001-7700-5828
Sailalitha BollepalliInstitute for Molecular Medicine, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-8773-7149
Pooja MandaviyaDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.
Yanni ZengMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-3507-5611
Toni-Kim ClarkeDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, UK.
Rosie M WalkerCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-1060-4479
Vanessa SchmollDepartment of Translational Research in Psychiatry, Max-Planck-Institute of Psychiatry, Munich, Germany.
Darina CzamaraDepartment of Translational Research in Psychiatry, Max-Planck-Institute of Psychiatry, Munich, Germany.ORCID http://orcid.org/0000-0001-7381-904X
Carlos Ruiz-ArenasISGlobal, Barcelona Global Health Institute, Barcelona, Spain.ORCID http://orcid.org/0000-0002-6014-3498
Faisal I RezwanDepartment of Computer Science, Aberystwyth University, Aberystwyth, UK.ORCID http://orcid.org/0000-0001-9921-222X
Riccardo E MarioniCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.
Tian LinInstitute for Molecular Bioscience, University of Queensland, Brisbane, Australia.ORCID http://orcid.org/0000-0002-5981-1911
Yvonne AwaloffDepartment of Translational Research in Psychiatry, Max-Planck-Institute of Psychiatry, Munich, Germany.
Marine GermainINSERM UMR_S 1219, Bordeaux Population Health Center, University of Bordeaux, Bordeaux, France.
Dylan AïssiDepartment of General and Interventional Cardiology, University Heart Center Hamburg, Hamburg, Germany.ORCID http://orcid.org/0000-0002-5858-6468
Ramona ZwambornDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Kristel van EijkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Annelot DekkerDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Jenny van DongenDepartment of Biological Psychology, Amsterdam Public Health Research Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0003-2063-8741
Jouke-Jan HottengaDepartment of Biological Psychology, Amsterdam Public Health Research Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-5668-2368
Gonneke WillemsenDepartment of Biological Psychology, Amsterdam Public Health Research Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Cheng-Jian XuUniversity of Groningen, University Medical Center Groningen, Department of Pediatric Pulmonology and Pediatric Allergology, Beatrix Children's Hospital, GRIAC Research Institute Groningen, Groningen, the Netherlands.
Guillermo BarturenPfizer-University of Granada-Andalusian Government Center for Genomics and Oncological Research, Granada, Spain.ORCID http://orcid.org/0000-0003-2103-1028
Francesc Català-MollChromatin and Disease Group, Cancer Epigenetics and Biology Programme, Bellvitge Biomedical Research Institute, Barcelona, Spain.
Martin KerickInstituto de Parasitología y Biomedicina López Neyra, CSIC, Granada, Spain.ORCID http://orcid.org/0000-0002-6298-4514
Carol WangSchool of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Newcastle, Australia.ORCID http://orcid.org/0000-0002-4301-3974
Phillip MeltonMenzies Institute for Medical Research, College of Health and Medicine, University of Tasmania, Hobart, Australia.ORCID http://orcid.org/0000-0003-4026-2964
Hannah R ElliottMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-1500-3533
Jean ShinThe Hospital for Sick Children, University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0001-7353-5178
Manon BernardThe Hospital for Sick Children, University of Toronto, Toronto, Canada.
Idil YetDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-1227-0716
Melissa SmartInstitute for Social and Economic Research, University of Essex, Colchester, UK.
Tyler Gorrie-StoneSchool of Life Sciences, University of Essex, Colchester, UK.ORCID http://orcid.org/0000-0002-1817-1495
BIOS Consortium
Chris ShawDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London, UK.
Ammar Al ChalabiDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, London, UK.ORCID http://orcid.org/0000-0002-4924-7712
Susan M RingMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0003-3103-9330
Göran PershagenInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Erik MelénInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-8248-0663
Jordi Jiménez-CondeNeurology Department, Hospital del Mar, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.
Jaume RoquerNeurology Department, Hospital del Mar, Institut Hospital del Mar d'Investigacions Mèdiques, Barcelona, Spain.ORCID http://orcid.org/0000-0001-5992-2606
Deborah A LawlorMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-6793-2262
John WrightBradford Institute for Health Research, Bradford, UK.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0003-4069-8020
Grant W MontgomeryInstitute for Molecular Bioscience, University of Queensland, Brisbane, Australia.ORCID http://orcid.org/0000-0002-4140-8139
Terrie E MoffittCenter for Genomic and Computational Biology, Duke University, Durham, NC, USA.
Richie PoultonDunedin Multidisciplinary Health and Development Research Unit, Department of Psychology, University of Otago, Dunedin, New Zealand.ORCID http://orcid.org/0000-0002-1052-4583
Tõnu EskoEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.
Lili MilaniEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-5323-3102
Andres MetspaluEstonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0002-3718-796X
John R B PerryMRC Epidemiology Unit, School of Clinical Medicine, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-6483-3771
Ken K OngMRC Epidemiology Unit, School of Clinical Medicine, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-4689-7530
Nicholas J WarehamMRC Epidemiology Unit, School of Clinical Medicine, Institute of Metabolic Science, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-1422-2993
Giuseppe MatulloDepartment of Medical Sciences, University of Turin, Turin, Italy.
Carlotta SacerdoteItalian Institute for Genomic Medicine, Turin, Italy.
Salvatore PanicoDipartimento Di Medicina Clinica E Chirurgia, Federico II University, Naples, Italy.
Avshalom CaspiCenter for Genomic and Computational Biology, Duke University, Durham, NC, USA.
Louise ArseneaultSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-2938-2191
France GagnonDalla Lana School of Public Health, University of Toronto, Toronto, Canada.
Miina OllikainenInstitute for Molecular Medicine, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0003-3661-7400
Jaakko KaprioInstitute for Molecular Medicine, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-3716-2455
Janine F FelixThe Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-9801-5774
Fernando RivadeneiraDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0001-9435-9441
Henning TiemeierDepartment of Child and Adolescent Psychiatry, Erasmus Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-4395-1397
Marinus H van IJzendoornDepartment of Psychology, Education and Child Studies, Erasmus University Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-1144-454X
André G UitterlindenDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7276-3387
Vincent W V JaddoeThe Generation R Study Group, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-2939-0041
Chris HaleyMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Andrew M McIntoshDivision of Psychiatry, Royal Edinburgh Hospital, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0198-4588
Kathryn L EvansCentre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-7884-5877
Alison MurrayInstitute of Medical Sciences, University of Aberdeen, Aberdeen, UK.ORCID http://orcid.org/0000-0003-4915-4847
Katri RäikkönenDepartment of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Jari LahtiDepartment of Psychology and Logopedics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.ORCID http://orcid.org/0000-0002-4310-5297
Ellen A NohrResearch Unit for Gynaecology and Obstetrics, Institute of Clinical research, University of Southern Denmark, Odense, Denmark.
Thorkild I A SørensenMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0003-4821-430X
Torben HansenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID http://orcid.org/0000-0001-8748-3831
Camilla S MorgenThe Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Elisabeth B BinderDepartment of Translational Research in Psychiatry, Max-Planck-Institute of Psychiatry, Munich, Germany.ORCID http://orcid.org/0000-0001-7088-6618
Susanne LucaeDepartment of Translational Research in Psychiatry, Max-Planck-Institute of Psychiatry, Munich, Germany.
Juan Ramon GonzalezISGlobal, Barcelona Global Health Institute, Barcelona, Spain.ORCID http://orcid.org/0000-0003-3267-2146
Mariona BustamanteISGlobal, Barcelona Global Health Institute, Barcelona, Spain.ORCID http://orcid.org/0000-0003-0127-2860
Jordi SunyerISGlobal, Barcelona Global Health Institute, Barcelona, Spain.
John W HollowayHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID http://orcid.org/0000-0001-9998-0464
Wilfried KarmausDivision of Epidemiology, Biostatistics, and Environmental Health Sciences, School of Public Health, University of Memphis, Memphis, TN, USA.
Hongmei ZhangDivision of Epidemiology, Biostatistics, and Environmental Health Sciences, School of Public Health, University of Memphis, Memphis, TN, USA.
Ian J DearyCentre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, UK.
Naomi R WrayInstitute for Molecular Bioscience, University of Queensland, Brisbane, Australia.ORCID http://orcid.org/0000-0001-7421-3357
John M StarrCentre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, University of Edinburgh, Edinburgh, UK.
Marian BeekmanMolecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands.ORCID http://orcid.org/0000-0003-0585-6206
Diana van HeemstDepartment of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, the Netherlands.
P Eline SlagboomMolecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands.ORCID http://orcid.org/0000-0002-2875-4723
Pierre-Emmanuel MorangeC2VN, Aix-Marseille University, INSERM, INRAE, Marseille, France.ORCID http://orcid.org/0000-0002-9065-722X
David-Alexandre TrégouëtINSERM UMR_S 1219, Bordeaux Population Health Center, University of Bordeaux, Bordeaux, France.
Jan H VeldinkDepartment of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-5572-9657
Gareth E DaviesAvera Institute for Human Genetics, Sioux Falls, SD, USA.
Eco J C de GeusDepartment of Biological Psychology, Amsterdam Public Health Research Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
Dorret I BoomsmaDepartment of Biological Psychology, Amsterdam Public Health Research Institute, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-7099-7972
Judith M VonkUniversity of Groningen, University Medical Center Groningen, Department of Epidemiology, GRIAC Research Institute Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-7531-4547
Bert BrunekreefInstitute for Risk Assessment Sciences, Universiteit Utrecht, Utrecht, the Netherlands.
Gerard H KoppelmanUniversity of Groningen, University Medical Center Groningen, Department of Pediatric Pulmonology and Pediatric Allergology, Beatrix Children's Hospital, GRIAC Research Institute Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-8567-3252
Marta E Alarcón-RiquelmePfizer-University of Granada-Andalusian Government Center for Genomics and Oncological Research, Granada, Spain.ORCID http://orcid.org/0000-0002-7632-4154
Rae-Chi HuangTelethon Kids Institute, University of Western Australia, Perth, Australia.ORCID http://orcid.org/0000-0002-8464-6639
Craig E PennellSchool of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Newcastle, Australia.ORCID http://orcid.org/0000-0002-0937-6165
Joyce van MeursDepartment of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.
M Arfan IkramDepartment of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-0372-8585
Alun D HughesUCL Institute of Cardiovascular Science, London, UK.ORCID http://orcid.org/0000-0001-5432-5271
Therese TillinUCL Institute of Cardiovascular Science, London, UK.
Nish ChaturvediUCL Institute of Cardiovascular Science, London, UK.
Zdenka PausovaThe Hospital for Sick Children, University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0002-7784-1380
Tomas PausDepartments of Psychology and Psychiatry, University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0003-1495-9338
Timothy D SpectorDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-9795-0365
Meena KumariInstitute for Social and Economic Research, University of Essex, Colchester, UK.
Leonard C SchalkwykSchool of Life Sciences, University of Essex, Colchester, UK.ORCID http://orcid.org/0000-0001-7030-5756
Peter M VisscherInstitute for Molecular Bioscience, University of Queensland, Brisbane, Australia.ORCID http://orcid.org/0000-0002-2143-8760
George Davey SmithMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-1407-8314
Christoph BockCeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.ORCID http://orcid.org/0000-0001-6091-3088
Tom R GauntMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0003-0924-3247
Jordana T BellDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID http://orcid.org/0000-0002-3858-5986
Bastiaan T HeijmansMolecular Epidemiology, Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, the Netherlands.ORCID http://orcid.org/0000-0001-5918-0534
Jonathan MillUniversity of Exeter Medical School, College of Medicine and Health, University of Exeter, Exeter, UK.ORCID http://orcid.org/0000-0003-1115-3224
Caroline L ReltonMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
University of Bristol · GBKing's College London · GBErasmus MC · NLLeiden University Medical Center · NLUniversity of Helsinki · FIUniversity of Toronto · CAItalian institute for Genomic Medicine · ITThe University of Queensland · AUUniversity of Cambridge · GBVrije Universiteit Amsterdam · NLDuke University · USHospital del Mar Research Institute · ESKarolinska Institutet · SEMax Planck Institute of Psychiatry · DEUniversitat Pompeu Fabra · ESUniversity Medical Center Utrecht · NLUniversity of Essex · GBUniversity College London · GBUniversity Medical Center Groningen · NLUniversity of Copenhagen · DK
Funding
Biotechnology and Biological Sciences Research Council BB/S020845/1British Heart Foundation CS/13/1/30327British Heart Foundation CS/15/6/31468British Heart Foundation CS/16/4/32482Cancer Research UK A19169Cancer Research UK (CRUK) C18281/A191169Medical Research Council G0600974Medical Research Council G1001357Medical Research Council G1002190Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Medical Research Council MC_PC_21038Medical Research Council MC_UU_00006/1Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_00007/10Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_00011/5Medical Research Council MC_UU_12013/8Medical Research Council MC_UU_12015/2Medical Research Council MR/K013807/1Medical Research Council MR/L501529/1Medical Research Council MR/M008924/1Medical Research Council MR/N024397/1Medical Research Council MR/R005176/1Medical Research Council MR/R024804/1Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association ALCHALABI-TALBOT/APR14/926-794Wellcome Trust 204979Wellcome Trust 204979/Z/16/ZWellcome Trust 208806Wellcome Trust 208806/Z/17/ZZonMw 529051021
Abstract
Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to understand mechanisms underpinning gene regulation and disease. In the present study, we describe results of DNAm quantitative trait locus (mQTL) analyses on 32,851 participants, identifying genetic variants associated with DNAm at 420,509 DNAm sites in blood. We present a database of >270,000 independent mQTLs, of which 8.5% comprise long-range (trans) associations. Identified mQTL associations explain 15-17% of the additive genetic variance of DNAm. We show that the genetic architecture of DNAm levels is highly polygenic. Using shared genetic control between distal DNAm sites, we constructed networks, identifying 405 discrete genomic communities enriched for genomic annotations and complex traits. Shared genetic variants are associated with both DNAm levels and complex diseases, but only in a minority of cases do these associations reflect causal relationships from DNAm to trait or vice versa, indicating a more complex genotype-phenotype map than previously anticipated.
Indexed as
Chromosome MappingDNADNA MethylationEpigenesis, GeneticGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritancePolymorphism, Single NucleotideQuantitative Trait, HeritableQuantitative Trait LociTranscriptomeDNA
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