Evidence map›Paper›PMID 30804558›Full record

ArticleNature genetics2019

Identification of common genetic risk variants for autism spectrum disorder.

Jakob Grove, Stephan Ripke, Thomas D Als, Manuel Mattheisen, Raymond K Walters, Hyejung Won, Jonatan Pallesen, Esben Agerbo, Ole A Andreassen, Richard Anney and 70 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07182331 (Effects of cTBS on Sensory Integration in Children With Autism Spectrum Disorder), which is not on this map. Cited by 1,455 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1,455citing papers in PubMed, 6 pooled it
230.9field-weighted citation impact, top 1% of its field
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.

NCT07182331 naenrolling by invitationnot on this mapstarted 2025, after this paper: background citation

Effects of cTBS on Sensory Integration in Children With Autism Spectrum Disorder: A Randomized, Sham-Controlled Study Integrating Genetic Markers, MRI, fNIRS, and Temporal Binding Tasks

TypeinterventionalSponsorNeurolab PlusRan2025 to 2026Enrolled40ConditionsAutism Spectrum Disorder (ASD)ArmsContinuous Theta Burst Stimulation to Bilateral DLPFC, Sham Continuous Theta Burst Stimulation
3 · Its place in the literature

Who cites it

1,455 citing papers in PubMed, 6 syntheses or guidelines pooled it, 2,552 citations in OpenAlex.

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1,395 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

80 authors at 17 institutions in 9 countries.

Jakob GroveThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-2284-5744
Stephan RipkeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Thomas D AlsThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2963-1928
Manuel MattheisenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Raymond K WaltersAnalytic 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
Hyejung WonDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0003-3651-0566
Jonatan PallesenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Esben AgerboThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2849-524X
Ole A AndreassenNORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
Richard AnneyMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Swapnil AwashtiDepartment of Psychiatry and Psychotherapy, Charité-Universitätsmedizin, Berlin, Germany.
Rich BelliveauStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Francesco BettellaNORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 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 Harvard and MIT, Cambridge, MA, USA.
Kimberly ChambertStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jane H ChristensenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-0009-2991
Claire ChurchhouseAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Karin DellenvallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ditte DemontisThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-9124-2766
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Srdjan DjurovicNORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-8140-8061
Ashley L DumontStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jacqueline I GoldsteinAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
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.
Sigrun HopeNORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.
Daniel P HowriganAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7721-4838
Hailiang HuangAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Christina M HultmanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Julian MallerStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Joanna MartinStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Alicia R MartinAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Jennifer L MoranStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Mette NyegaardThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2967-6624
Terje NærlandNORMENT-KG Jebsen Centre for Psychosis Research, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0001-9175-4286
Duncan S PalmerAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Aarno PalotieAnalytic 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.ORCID http://orcid.org/0000-0003-2077-8533
Marianne Giørtz PedersenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Timothy dPoterbaAnalytic 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.
Beate St PourcainLanguage and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-4680-3517
Per QvistThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-0750-0089
Karola RehnströmWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
Abraham ReichenbergSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jennifer ReichertSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Elise B RobinsonAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Kathryn RoederComputational Biology Department, Carnegie Mellon University, Pittsburgh, PA, USA.
Panos RoussosDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Evald SaemundsenThe State Diagnostic and Counselling Centre, Kópavogur, Iceland.ORCID http://orcid.org/0000-0001-6912-5846
Sven SandinSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 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
George Davey SmithMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID http://orcid.org/0000-0002-1407-8314
Hreinn StefanssondeCODE genetics/Amgen, Reykjavík, Iceland.
Stacy SteinbergdeCODE genetics/Amgen, Reykjavík, Iceland.ORCID http://orcid.org/0000-0001-7726-5152
Christine R StevensStanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Patrick F SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-6619-873X
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
Xinyi XuSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium
BUPGEN
Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
23andMe Research Team
Kari StefanssondeCODE genetics/Amgen, Reykjavík, Iceland.ORCID http://orcid.org/0000-0003-1676-864X
Daniel H 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
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.ORCID http://orcid.org/0000-0003-1829-0766
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.
Benjamin M NealeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. mjdaly@atgu.mgh.harvard.edu.ORCID http://orcid.org/0000-0002-0949-8752
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
Broad Institute · USAarhus University · DKHarvard University · USStatens Serum Institut · DKdeCODE Genetics (Iceland) · ISOslo University Hospital · NOAllen Institute for Brain Science · USUniversity of Pittsburgh · USUniversity of Copenhagen · DKUniversity of Oslo · NOCarnegie Mellon University · USCharité - Universitätsmedizin Berlin · DEIcahn School of Medicine at Mount Sinai · USRadboud University Nijmegen · NLUniversity of California, Los Angeles · USUniversity of North Carolina at Chapel Hill · USWellcome Sanger Institute · GB

Funding

Population-Based Autism Genetics & Environment StudyR01MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2014 to 2022
$5.2M
Discovering Biology for Neuropsychiatric Diseases Through Omics Studies on ComorbiditiesR01MH113362 · NIMH · VANDERBILT UNIVERSITY MEDICAL CENTER · PI COX, NANCY J, KNAPIK, ELA W · 2017 to 2021
$3.9M
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
5/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109514 · NIMH · CARDIFF UNIVERSITY · PI O'DONOVAN, MICHAEL · 2016 to 2020
$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
1/4 - The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 ExomesU01MH111661 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2017 to 2021
$2.6M
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
Population-Based Autism Genetics & Environment StudyR56MH097849 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BUXBAUM, JOSEPH D. · 2012 to 2013
$1.3M
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
Data commons for 'omic, microscopy and analysis core facilitiesS10OD018164 · OD · DUKE UNIVERSITY · PI WRAY, GREGORY A. · 2014 to 2014
$598k
Medical Research Council G0200243Medical Research Council G0700704Medical Research Council MC_UU_00007/10Medical Research Council MC_UU_00011/1Medical Research Council MR/K026992/1Medical Research Council MR/L010305/1NIDDK NIH HHS K01 DK114379NIH HHS S10 OD018164NIH HHS S10 OD018522NIMH NIH HHS R00 MH113823NIMH NIH HHS R01 MH097849NIMH NIH HHS R01 MH113362NIMH NIH HHS R56 MH097849NIMH NIH HHS U01 MH094432NIMH NIH HHS U01 MH109514NIMH NIH HHS U01 MH109536NIMH NIH HHS U01 MH111661Wellcome Trust
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

Indexed as

AdolescentAutism Spectrum DisorderCase-Control StudiesChildChild, PreschoolDenmarkFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMultifactorial InheritancePhenotypePolymorphism, Single NucleotideRisk Factors

Identifiers

PMID30804558
PMCPMC6454898
OpenAlexW2914482125

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Registered trials

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.