Evidence map›Paper›PMID 30478444›Full record

SynthesisNature genetics2019

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.

Ditte Demontis, Raymond K Walters, Joanna Martin, Manuel Mattheisen, Thomas D Als, Esben Agerbo, Gísli Baldursson, Rich Belliveau, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen and 74 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1,172 papers, 8 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1,172citing papers in PubMed, 8 pooled it
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1,172 citing papers in PubMed, 8 syntheses or guidelines pooled it.

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  17. Convergent genetic pathways linking neuropsychiatric and ocular disorders in children.Journal of child psychology and psychiatry, and allied disciplines · 2026
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1,112 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

84 authors.

Ditte Demontis *The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-9124-2766
Raymond K Walters *Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8422-6530
Joanna MartinStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Manuel MattheisenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Thomas D AlsThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2963-1928
Esben AgerboThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2849-524X
Gísli BaldurssonDepartment of Child and Adolescent Psychiatry, National University Hospital, Reykjavik, Iceland.
Rich BelliveauStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jonas Bybjerg-GrauholmThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-1705-4008
Marie Bækvad-HansenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Felecia CerratoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kimberly ChambertStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Claire ChurchhouseAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Ashley DumontStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nicholas Eriksson23andMe, Inc, Mountain View, CA, USA.
Michael GandalProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Jacqueline I GoldsteinAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Katrina L GrasbyQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Jakob GroveThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-2284-5744
Olafur O GudmundssonDepartment of Child and Adolescent Psychiatry, National University Hospital, Reykjavik, Iceland.
Christine S HansenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-7518-4663
Mads Engel HaubergThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Mads V HollegaardThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Daniel P HowriganAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Hailiang HuangAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Julian B MallerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alicia R MartinAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0003-4069-8020
Jennifer MoranStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jonatan PallesenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Duncan S PalmerAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Carsten Bøcker PedersenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Marianne Giørtz PedersenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Timothy PoterbaAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Jesper Buchhave PoulsenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Stephan RipkeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Elise B RobinsonAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
F Kyle SatterstromAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6187-7680
Hreinn StefanssondeCODE genetics/Amgen, Reykjavík, Iceland.ORCID http://orcid.org/0000-0002-9331-6666
Christine StevensStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Patrick TurleyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
G Bragi WaltersdeCODE genetics/Amgen, Reykjavík, Iceland.ORCID http://orcid.org/0000-0002-5415-6487
Hyejung WonProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-3651-0566
Margaret J WrightQueensland Brain Institute, University of Queensland, Brisbane, Australia.ORCID http://orcid.org/0000-0001-7133-4970
ADHD Working Group of the Psychiatric Genomics Consortium (PGC)
Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium
23andMe Research Team
Ole A AndreassenNORMENT KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, University of Oslo and Oslo University Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
Philip AshersonSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Christie L BurtonPsychiatry, Neurosciences and Mental Health, The Hospital for Sick Children, University of Toronto, Toronto, Canada.ORCID http://orcid.org/0000-0002-8955-6528
Dorret I BoomsmaDepartment of Biological Psychology, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands.
Bru CormandDepartament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.
Søren DalsgaardNational Centre for Register-Based Research, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-4659-0969
Barbara FrankeDepartments of Human Genetics (855) and Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
Joel GelernterDepartment of Psychiatry, Genetics, and Neuroscience, Yale University School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-4067-1859
Daniel GeschwindProgram in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-2896-3450
Hakon HakonarsonThe Center for Applied Genomics, The Children´s Hospital of Philadelphia, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jan HaavikK.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway.
Henry R KranzlerDepartment of Psychiatry, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jonna KuntsiSocial, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-0113-8162
Kate LangleyMRC Centre for Neuropsychiatric Genetics & Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Klaus-Peter LeschDivision of Molecular Psychiatry, Center of Mental Health, University of Wuerzburg, Wuerzburg, Germany.ORCID http://orcid.org/0000-0001-8348-153X
Christel MiddeldorpDepartment of Biological Psychology, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands.
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt, Frankfurt am Main, Germany.ORCID http://orcid.org/0000-0002-0992-634X
Luis Augusto RohdeDepartment of Psychiatry, Faculty of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Panos RoussosDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Russell SchacharPsychiatry, Neurosciences and Mental Health, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Pamela SklarDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Edmund J S Sonuga-BarkeInstitute of Psychiatry, Psychology & Neuroscience, Kings College, London, UK.
Patrick F SullivanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-6619-873X
Anita ThaparMRC Centre for Neuropsychiatric Genetics & Genomics, School of Medicine, Cardiff University, Cardiff, UK.
Joyce Y Tung23andMe, Inc, Mountain View, CA, USA.
Irwin D WaldmanDepartment of Psychology, Emory University, Atlanta, GA, USA.ORCID http://orcid.org/0000-0002-6862-1837
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Australia.ORCID http://orcid.org/0000-0003-1382-380X
Kari StefanssondeCODE genetics/Amgen, Reykjavík, Iceland.ORCID http://orcid.org/0000-0003-1676-864X
Merete NordentoftThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
David M HougaardThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-5928-3517
Thomas WergeThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Ole MorsThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Preben Bo MortensenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Stephen V FaraoneDepartments of Psychiatry and Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY, USA. sfaraone@childpsychresearch.org.ORCID http://orcid.org/0000-0002-9217-3982
Anders D BørglumThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark. anders@biomed.au.dk.ORCID http://orcid.org/0000-0001-8627-7219
Benjamin M NealeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. bneale@broadinstitute.org.ORCID http://orcid.org/0000-0003-1513-6077

Funding

2/7 Psychiatric Genomics Consortium: Finding Actionable VariationU01MH109539 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2016 to 2020
$4.7M
Longitudinal Family/Molecular Genetic Study to Validate Research Domain CriteriaR01MH101519 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI FARAONE, STEPHEN V, GLATT, STEPHEN J · 2014 to 2018
$3.5M
2/4-Psychiatric GWAS Consortium: Genomic Follow-Up Next-Gen Sequencing & GenotypiU01MH094432 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2012 to 2015
$3.0M
Statistical methods to localize disease heritability and identify biological mechanismsR01MH107649 · NIMH · BROAD INSTITUTE, INC. · PI NEALE, BENJAMIN MICHAEL · 2015 to 2018
$2.9M
3/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109536 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CHARNEY, ALEXANDER W, HUCKINS, LAURA MARIANNE · 2016 to 2020
$2.7M
Quantifying the impact of rare mutations on ADHDR01MH094469 · NIMH · BROAD INSTITUTE, INC. · PI NEALE, BENJAMIN MICHAEL · 2012 to 2015
$2.4M
Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9M
Connecting gene regulatory mechanisms in human brain to psychiatric illnessR00MH113823 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2018 to 2020
$719k
Genetics and gene regulation in the inflammatory bowel diseasesK01DK114379 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI HUANG, HAILIANG · 2017 to 2021
$632k
Medical Research Council G0300189Medical Research Council G19/2Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_12013/4Medical Research Council MR/L010305/1NIDDK NIH HHS K01 DK114379NIH HHS S10 OD018522NIMH NIH HHS R00 MH113823NIMH NIH HHS R01 MH094469NIMH NIH HHS R01 MH101519NIMH NIH HHS R01 MH107649NIMH NIH HHS U01 MH094432NIMH NIH HHS U01 MH109536NIMH NIH HHS U01 MH109539Wellcome Trust
6 · The paper itself

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.

Indexed as

AdolescentAttention Deficit Disorder with HyperactivityBrainChildChild, PreschoolCohort StudiesFemaleGene Expression RegulationGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideRisk

Identifiers

PMID30478444
PMCPMC6481311

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.