SynthesisNature genetics2018
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
Erratum issuedAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 876 papers, 9 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
876citing papers in PubMed, 9 pooled it
–field-weighted citation impact
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
876 citing papers in PubMed, 9 syntheses or guidelines pooled it.
- Integrating cell-type-specific gene expression and genome-wide associations identifies risk genes for schizophrenia.Molecular psychiatry · 2026Pooled it
- Integrative GWAS identifies novel loci and genetic links between psychiatric and metabolic factors in anorexia nervosa.Molecular psychiatry · 2026Pooled it
- Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder.Human genetics · 2026Pooled it
- Dissecting Schizophrenia Biology Using Pleiotropy With Cognitive Genomics.Biological psychiatry · 2025Pooled it
- A contextual genomic perspective on physical activity and its relationship to health, well being and illness.Nature genetics · 2025Pooled it
- Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.Translational psychiatry · 2025Pooled it
- Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder.Nature genetics · 2025Pooled it
- Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia.Nature human behaviour · 2025Pooled it
- Causal Association Between Sedentary Behaviors and Health Outcomes: A Systematic Review and Meta-Analysis of Mendelian Randomization Studies.Sports medicine (Auckland, N.Z.) · 2024Pooled it
- The effect of fampridine on working memory: a randomized controlled trial based on a genome-guided repurposing approach.Molecular psychiatry · 2025Trial
- Article
- Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Article
- Disorder-specific and shared genetic architecture underlying schizophrenia and bipolar disorder.medRxiv : the preprint server for health sciences · 2026Article
- Single-cell profiling and genetic regulation of alternative polyadenylation in the human brain.Nature genetics · 2026Article
- Retinoic acid in health and disease.Signal transduction and targeted therapy · 2026Review
- Article
- Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.Human molecular genetics · 2026Article
- A Genome-Wide Association Study of Premenstrual Symptoms in Two Nordic Populations.Biological psychiatry global open science · 2026Article
- Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank.Molecular psychiatry · 2026Article
816 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
71 authors.
Antonio F PardiñasMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-6845-7590
Peter HolmansMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Andrew J PocklingtonMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Valentina Escott-PriceMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Stephan RipkeAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3622-835X
Noa CarreraMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Sophie E LeggeMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-6617-0289
Sophie BishopMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Darren CameronMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-7520-7741
Marian L HamshereMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Jun HanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Leon HubbardMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Amy LynhamMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-3189-6888
Kiran MantripragadaMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Elliott ReesMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
James H MacCabeDepartment of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0002-6754-1018
Steven A McCarrollStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Bernhard T BauneDiscipline of Psychiatry, University of Adelaide, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0001-6548-426X
Gerome BreenMRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0003-2053-1792
Enda M ByrneQueensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0002-9491-7797
Udo DannlowskiDepartment of Psychiatry and Psychotherapy, University of Münster, Münster, Germany.
Thalia C EleyMRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0001-6458-0700
Caroline HaywardMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-9405-9550
Nicholas G MartinSchool of Psychology, University of Queensland, Brisbane, Queensland, Australia.
Andrew M McIntoshDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0198-4588
Robert PlominMRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
David J PorteousMedical Genetics Section, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-1249-6106
Naomi R WrayQueensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.ORCID http://orcid.org/0000-0001-7421-3357
Armando CaballeroDepartamento de Bioquímica, Genética e Inmunología. Facultad de Biología, Universidad de Vigo, Vigo, Spain.
Daniel H GeschwindDepartment of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Laura M HuckinsDivision of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-5369-6502
Douglas M RuderferDivision of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Enrique SantiagoDepartamento de Biología Funcional. Facultad de Biología, Universidad de Oviedo, Oviedo, Spain.ORCID http://orcid.org/0000-0002-5524-5641
Pamela SklarDivision of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eli A StahlDivision of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hyejung WonDepartment of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-3651-0566
Esben AgerboiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2849-524X
Thomas D AlsiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2963-1928
Ole A AndreassenInstitute of Clinical Medicine, University of Oslo, Oslo, Norway.
Marie Bækvad-HanseniPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Preben Bo MortenseniPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Carsten Bøcker PederseniPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Anders D BørglumiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Jonas Bybjerg-GrauholmiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-1705-4008
Srdjan DjurovicNORMENT, KG Jebsen Centre for Psychosis Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Naser DurmishiDepartment of Child and Adolescent Psychiatry, University Clinic of Psychiatry, Skopje, Macedonia.
Marianne Giørtz PederseniPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Vera GolimbetDepartment of Clinical Genetics, Mental Health Research Center, Moscow, Russia.
Jakob GroveiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-2284-5744
David M HougaardiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-5928-3517
Manuel MattheiseniPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Espen MoldenCenter for Psychopharmacology, Diakonhjemmet Hospital, Oslo, Norway.ORCID http://orcid.org/0000-0001-6190-2751
Ole MorsiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Merete NordentoftiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
Milica Pejovic-MilovancevicDepartment of Psychiatry, School of Medicine, University of Belgrade, Belgrade, Serbia.
Engilbert SigurdssonDepartment of Psychiatry, National University Hospital, Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-9404-7982
Teimuraz SilagadzeDepartment of Psychiatry and Drug Addiction, Tbilisi State Medical University (TSMU), Tbilisi, Georgia.
Christine Søholm HanseniPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-7518-4663
Kari StefanssondeCODE Genetics, Reykjavik, Iceland.
Hreinn StefanssondeCODE Genetics, Reykjavik, Iceland.
Stacy SteinbergdeCODE Genetics, Reykjavik, Iceland.
Sarah TosatoSection of Psychiatry, Department of Public Health and Community Medicine, University of Verona, Verona, Italy.ORCID http://orcid.org/0000-0002-9665-7538
Thomas WergeiPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Aarhus, Denmark.
GERAD1 Consortium
CRESTAR Consortium
David A CollierMRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID http://orcid.org/0000-0003-4087-1559
Dan RujescuDepartment of Psychiatry, University of Halle, Halle, Germany.
George KirovMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK. owenmj@cardiff.ac.uk.ORCID http://orcid.org/0000-0003-4798-0862
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK. odonovanmc@cardiff.ac.uk.ORCID http://orcid.org/0000-0001-7073-2379
James T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK. waltersjt@cardiff.ac.uk.ORCID http://orcid.org/0000-0002-6980-4053
Funding
THE GENETICS OF VULNERABILITY TO NICOTINE ADDICTIONSR01DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2000 to 2013
$10.4MMolecular Epidemiology of Alcoholism 3 - EDAC FamiliesR01AA013321 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2001 to 2005
$4.3MGenetics, School environments and cognitive developmentR01HD044454 · NICHD · KING'S COLLEGE LONDON · PI PLOMIN, ROBERT · 2005 to 2014
$3.4MMolecular Epidemiology of Alcoholism 2- Big SibshipsR01AA013320 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2003 to 2007
$3.1M2/3 Integrative Genomic Analysis of Human Brain Development and AutismR01MH110927 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2016 to 2019
$2.7MGenetic Epidemiology of Pathological GamblingR01MH066206 · NIMH · UNIVERSITY OF MISSOURI-COLUMBIA · PI SLUTSKE, WENDY S · 2003 to 2007
$2.5MGenetics of Mathematical Cognition and DisabilitiesR01HD059215 · NICHD · OHIO STATE UNIVERSITY · PI PETRILL, STEPHEN A. · 2009 to 2012
$2.4MMolecular Epidemiology of Alcoholism 1: Candidate GeneR01AA013326 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI MARTIN, NICHOLAS G · 2001 to 2005
$2.1MVARIATION IN THE EFFECTS OF ALCOHOL ON LIVER FUNCTIONR01AA014041 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI WHITFIELD, JOHN B · 2003 to 2007
$2.1MConnecting gene regulatory mechanisms in human brain to psychiatric illnessR00MH113823 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WON, HYEJUNG · 2018 to 2020
$719kRefining Phenotypic Measures of Nicotine WithdrawalK08DA019951 · NIDA · WASHINGTON UNIVERSITY · PI PERGADIA, MICHELE L · 2005 to 2009
$659kThe Genetics of Vulnerability to Nicotine AddictionsR56DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2007 to 2007
$436kMedical Research Council G0800509Medical Research Council G19/2Medical Research Council MC_UU_00007/10Medical Research Council MR/K026992/1Medical Research Council MR/L010305/1Medical Research Council MR/L011794/1Medical Research Council MR/L023784/2Medical Research Council MR/P005748/1NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NICHD NIH HHS R01 HD044454NICHD NIH HHS R01 HD059215NIDA NIH HHS K08 DA019951NIDA NIH HHS R01 DA012854NIDA NIH HHS R56 DA012854NIMH NIH HHS K99 MH113823NIMH NIH HHS R00 MH113823NIMH NIH HHS R01 MH066206NIMH NIH HHS R01 MH110927Wellcome Trust
Abstract
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life and decreased life expectancy. Lack of progress in improving treatment outcomes has been attributed to limited knowledge of the underlying biology, although large-scale genomic studies have begun to provide insights. We report a new genome-wide association study of schizophrenia (11,260 cases and 24,542 controls), and through meta-analysis with existing data we identify 50 novel associated loci and 145 loci in total. Through integrating genomic fine-mapping with brain expression and chromosome conformation data, we identify candidate causal genes within 33 loci. We also show for the first time that the common variant association signal is highly enriched among genes that are under strong selective pressures. These findings provide new insights into the biology and genetic architecture of schizophrenia, highlight the importance of mutation-intolerant genes and suggest a mechanism by which common risk variants persist in the population.
Indexed as
Polymorphism, Single NucleotideSelection, GeneticAllelesCase-Control StudiesGene FrequencyGenes, LethalGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInheritance PatternsSchizophrenia
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
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.