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Mapping genomic loci implicates genes and synaptic biology in schizophrenia

. 2022 Apr ; 604 (7906) : 502-508. [epub] 20220408

Language English Country Great Britain, England Media print-electronic

Document type Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't

Grant support
MC_UU_00007/10 Medical Research Council - United Kingdom
R01 MH116281 NIMH NIH HHS - United States
5R01 MH101519 NIH HHS - United States
085475/B/08/Z Wellcome Trust - United Kingdom
G1100583 Medical Research Council - United Kingdom
R01 MH124873 NIMH NIH HHS - United States
U01 MH109536 NIMH NIH HHS - United States
R01 MH101519 NIMH NIH HHS - United States
Wellcome Trust - United Kingdom
MR/L010305/1 Medical Research Council - United Kingdom
G0901310 Medical Research Council - United Kingdom
085475/Z/08/Z Wellcome Trust - United Kingdom
R01 MH119243 NIMH NIH HHS - United States
G0800509 Medical Research Council - United Kingdom
R01 MH106575 NIMH NIH HHS - United States
R37 NS036715 NINDS NIH HHS - United States
K01 MH121659 NIMH NIH HHS - United States
U01 MH109514 NIMH NIH HHS - United States

Links

PubMed 35396580
PubMed Central PMC9392466
DOI 10.1038/s41586-022-04434-5
PII: 10.1038/s41586-022-04434-5
Knihovny.cz E-resources

Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies.

1st Department of Psychiatry Medical School National and Kapodistrian University of Athens Eginition Hospital Athens Greece

2nd Opinion Outpatient Clinic GGNet Mental Health Warnsveld The Netherlands

Affiliated Hospital of Qingdao University and Biomedical Sciences Institute of Qingdao University Qingdao University Qingdao China

Altrecht General Menthal Health Care Utrecht The Netherlands

Analytic and Translational Genetics Unit Department of Medicine Department of Neurology and Department of Psychiatry Massachusetts General Hospital Boston MA USA

Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA

APC Microbiome Ireland University College Cork Cork Ireland

Área de Psiquiatría Universidad de Oviedo Hospital Universitario Central de Asturias Asturias Spain

Arkin Institute for Mental Health Amsterdam The Netherlands

Asfalia Biologics iPEPS ICM Hôpital Universitaire de la Pitié Salpêtrière Paris France

Australian Centre for Precision Health University of South Australia Cancer Research Institute University of South Australia Adelaide South Australia Australia

Baker Heart and Diabetes Institute Melbourne Victoria Australia

Banner University Medical Center Phoenix AZ USA

Barnet Enfield and Haringey Mental Health NHS Trust St Ann's Hospital London UK

Berlin Institute of Health Berlin Germany

Berlin School of Mind and Brain Humboldt Universität zu Berlin Berlin Germany

Bio 10 Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders Collaborative Innovation Center for Brain Science Shanghai Jiao Tong University Shanghai China

BIOARABA Health Research Institute OSI Araba University Hospital University of the Basque Country Vitoria Spain

Biogen Cambridge MA USA

Biomedical Research Institute INCLIVA Valencia Spain

Black Dog Institute University of New South Wales Randwick New South Wales Australia

Brain and Mind Centre The University of Sydney Sydney New South Wales Australia

Broad Institute of MIT and Harvard Cambridge MA USA

Bulgarian Academy of Science Sofia Bulgaria

Cambridge Health Alliance Cambridge MA USA

Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto Ontario Canada

Castle Peak Hospital Hong Kong China

Center for Behavioral Genomics Department of Psychiatry University of California San Diego La Jolla CA USA

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Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China

Center for Genomics and Personalized Medicine Aarhus Denmark

Center for GeoGenetics GLOBE Institute University of Copenhagen Copenhagen Denmark

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Center for Translational Medicine The 1st Affiliated Hospital of Xi'an Jiaotong University Xi'an China

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Centre for Brain and Mental Health Research University of Newcastle Newcastle New South Wales Australia

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Centre for Genomic and Experimental Medicine Institute of Genetics and Molecular Medicine University of Edinburgh Western General Hospital Edinburgh UK

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Children's Hospital of Philadelphia Leonard Madlyn Abramson Research Center Philadelphia PA USA

Clinic of Psychiatry and Psychotherapy Weißer Hirsch Dresden Germany

Clinical Neuroscience Max Planck Institute of Experimental Medicine Göttingen Germany

Cognitive Neuropsychiatry Laboratory Department of Psychiatry and Psychotherapy Philipps Universität Marburg Marburg Germany

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College of Public Health China Medical University Taichung Taiwan

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Department for Neurodegenerative Diseases and Geriatric Psychiatry University Hospital Bonn Bonn Germany

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Department of Basic and Clinical Neuroscience Institute of Psychiatry Psychology and Neuroscience King's College London London UK

Department of Basic Medical Science Neuroscience and Sense Organs University of Bari 'Aldo Moro' Bari Italy

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Department of Biology and Medical Genetics 2nd Faculty of Medicine and University Hospital Motol Prague Czech Republic

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Department of Genetics and Genomic Sciences and Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA

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Department of Genetics and Pathology International Hereditary Cancer Center Pomeranian Medical University in Szczecin Szczecin Poland

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Department of Health Data Science University of Liverpool Liverpool UK

Department of Health Sciences University of Leicester Leicester UK

Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA

Department of Human Molecular Genetics of the Institute of Biochemistry and Genetics of the Ufa Federal Research Center of the Russian Academy of Sciences Ufa Russia

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Department of Molecular and Translational Medicine University of Brescia Brescia Italy

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Department of Neurology Medical University of Vienna Vienna Austria

Department of Neuroscience Biomedicine and Movement Sciences Section of Psychiatry University of Verona Verona Italy

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Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA

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Department of Psychiatry Landspitali University Hospital Reykjavik Iceland

Department of Psychiatry LKS Faculty of Medicine The University of Hong Kong Hong Kong China

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Department of Psychiatry Psychosomatics and Psychotherapy Julius Maximilians Universität Würzburg Würzburg Germany

Department of Psychiatry Queens University Kingston Kingston Ontario Canada

Department of Psychiatry Research Unit of Clinical Neuroscience University of Oulu Oulu Finland

Department of Psychiatry Royal College of Surgeons in Ireland Dublin Ireland

Department of Psychiatry San Cecilio University Hospital University of Granada Granada Spain

Department of Psychiatry School of Medicine Ankara University Ankara Turkey

Department of Psychiatry School of Medicine University of Valencia Hospital Clínico Universitario de Valencia Valencia Spain

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Department of Psychology University of Chinese Academy of Sciences Beijing China

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Department of Psychosis Studies Institute of Psychiatry Psychology and Neuroscience King's College London London UK

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Department of Public Health University of Helsinki Helsinki Finland

Department of Statistics and Applied Probability University of California at Santa Barbara Santa Barbara CA USA

Department of Stem Cell and Regenerative Biology Harvard University Cambridge MA USA

Department of Translational Neuroscience UMC Utrecht Brain Center University Medical Center Utrecht Utrecht University Utrecht The Netherlands

Departments of Psychiatry and Human and Molecular Genetics INSERM Institut de Myologie Hôpital de la Pitiè Salpêtrière Paris France

Departments of Psychiatry and Human Genetics University of Chicago Chicago IL USA

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Dipartimento di Biologia Universita' di Pisa Pisa Italy

Discipline of Psychiatry Adelaide Medical School University of Adelaide Adelaide South Australia Australia

Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA

Division of Medical Genetics Department of Biomedicine University of Basel Basel Switzerland

Division of Mental Health and Addiction Oslo University Hospital Oslo Norway

Division of Mental Health St Olav's Hospital Trondheim University Hospital Trondheim Norway

Division of Molecular Medicine NSW Health Pathology North Newcastle New South Wales Australia

Division of Psychiatric Genomics Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA

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Faculty of Medicine University of Iceland Reykjavik Iceland

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Federal State Educational Institution of Highest Education Bashkir State Medical University of Public Health Ministry of Russian Federation Ufa Russia

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Genetic Unit IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli Brescia Italy

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Instituto de Investigación Sanitaria Santiago de Compostela Spain

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Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan

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Laboratory of Complex Trait Genomics Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan

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Latvian Biomedical Research and Study Centre Riga Latvia

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Lieber Institute for Brain Development Baltimore MD USA

Massachusetts Mental Health Center Boston MA USA

Massachusetts Mental Health Center Public Psychiatry Division of the Beth Israel Deaconess Medical Center Boston MA USA

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Max Planck Institute of Psychiatry Munich Germany

Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland

Melbourne Neuropsychiatry Centre University of Melbourne and Melbourne Health Melbourne Victoria Australia

Melbourne School of Population and Global Health University of Melbourne Melbourne Victoria Australia

Mental Health Research Center Moscow Russian Federation

Mental Health Services in the Capital Region of Denmark Mental Health Center Copenhagen University of Copenhagen Copenhagen Denmark

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Molecular and Cellular Therapeutics Royal College of Surgeons in Ireland Dublin Ireland

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Psychiatric Clinic Alexandrovska University Hospital Sofia Bulgaria

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Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA

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State Key Laboratory of Brain and Cognitive Sciences LKS Faculty of Medicine The University of Hong Kong Hong Kong China

State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology Collaborative Innovation Center of Genetics and Development Human Phenome Institute School of Life Sciences Fudan University Shanghai China

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The Florey Institute of Neuroscience and Mental Health University of Melbourne Parkville Victoria Australia

The Lundbeck Foundation Initiative for Integrative Psychiatric Research Aarhus Denmark

The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Copenhagen Denmark

THL Finnish Institute for Health and Welfare Helsinki Finland

TIPS Network for Clinical Research in Psychosis Stavanger University Hospital Stavanger Norway

UCL Genetics Institute University College London London UK

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Unit of Clinical and Molecular Epidemiology IRCCS San Raffaele Roma and San Raffaele University Rome Italy

Université de Paris Faculté de Médecine Hôpital Cochin Tarnier Paris France

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University Medical Center Utrecht Department of Psychiatry Rudolf Magnus Institute of Neuroscience Utrecht The Netherlands

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Westlake Laboratory of Life Sciences and Biomedicine Hangzhou China

Yoo Loo Lin School of Medicine National University of Singapore Singapore Singapore

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Owen MJ Sawa A.& Mortensen PB Schizophrenia. The Lancet vol. 388 86–97 (2016). PubMed PMC

Plana-Ripoll O.et al. A comprehensive analysis of mortality-related health metrics associated with mental disorders: a nationwide, register-based cohort study. Lancet 394, 1827–1835 (2019). PubMed

Momen NC et al. Association between mental disorders and subsequent medical conditions. N. Engl. J. Med 382, 1721–1731 (2020). PubMed PMC

Jääskeläinen E.et al. A systematic review and meta-analysis of recovery in schizophrenia. Schizophr Bull. 39, 1296–1306 (2013). PubMed PMC

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748–752 (2009). PubMed PMC

Pocklington AJ et al. Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. Neuron 86, 1203–1214 (2015). PubMed PMC

Singh T.et al. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat. Genet 49, 1167–1173 (2017). PubMed PMC

Rees E.et al. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nat. Neurosci (2020) doi:10.1038/s41593-019-0565-2. PubMed DOI PMC

Lam M.et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nat. Genet (2019) doi:10.1038/s41588-019-0512-x. PubMed DOI PMC

Bigdeli TB et al. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol. Psychiatry 25, 2455–2467 (2020). PubMed PMC

Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421–427 (2014). PubMed PMC

Räsänen S, Pakaslahti A, Syvälahti E, Jones PB & Isohanni M.Sex differences in schizophrenia: A review. Nord. J. Psychiatry 54, 37–45 (2000).

Zeng J.et al. Bayesian analysis of GWAS summary data reveals differential signatures of natural selection across human complex traits and functional genomic categories. bioRxiv 752527 (2019) doi:10.1101/752527. PubMed DOI PMC

Aguet F.et al. Genetic effects on gene expression across human tissues. Nature 550, 204–213 (2017). PubMed PMC

Genome-wide association study identifies five new schizophrenia loci. Nat. Genet 43, 969–978 (2011). PubMed PMC

Skene NG et al. Genetic identification of brain cell types underlying schizophrenia. Nat. Genet 50, 825–833 (2018). PubMed PMC

Habib N.et al. Massively parallel single-nucleus RNA-seq with DroNc-seq. Nat. Methods 14, 955–958 (2017). PubMed PMC

Zeisel A.et al. Molecular Architecture of the Mouse Nervous System. Cell 174, 999–1014.e22 (2018). PubMed PMC

Koopmans F.et al. SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. Neuron 103, 217–234.e4 (2019). PubMed PMC

Benner C.et al. FINEMAP: Efficient variable selection using summary data from genome-wide association studies. Bioinformatics 32, 1493–1501 (2016). PubMed PMC

Sakuntabhai A.et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat. Genet 21, 271–277 (1999). PubMed

Cederlöf M.et al. The association between Darier disease, bipolar disorder, and schizophrenia revisited: A population-based family study. Bipolar Disord. 17, 340–344 (2015). PubMed

Pardiñas AF et al. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nat. Genet 50, 381–389 (2018). PubMed PMC

Zhu Z.et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet 48, 481–487 (2016). PubMed

Gandal MJ et al. Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder. Science (80-. ) 362, (2018). PubMed PMC

O’Brien HE et al. Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders. Genome Biol. 19, 194 (2018). PubMed PMC

Võsa U.et al. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nat. Genet 53, 1300–1310 (2021). PubMed PMC

Wang D.et al. Comprehensive functional genomic resource and integrative model for the human brain. Science (80-. ) 362, eaat8464 (2018). PubMed PMC

Galvan L.et al. The Striatal Kinase DCLK3 Produces Neuroprotection Against Mutant Huntingtin - PubMed. Brain 141, 1434–1454 (2018). PubMed PMC

Rees E.et al. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73, 963–969 (2016). PubMed PMC

Fromer M.et al. De novo mutations in schizophrenia implicate synaptic networks. Nature 506, 179–184 (2014). PubMed PMC

Kaplanis J.et al. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders. bioRxiv (2019) doi:10.1101/797787. DOI

Satterstrom FK et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568–584.e23 (2020). PubMed PMC

Luo Y.et al. Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7. Nat. Genet 49, 186–192 (2017). PubMed PMC

Cheng Y.et al. Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. Nat. Commun 12, (2021). PubMed PMC

Singh T, Neale BM & Daly MJ Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia on behalf of the Schizophrenia Exome Meta-Analysis (SCHEMA) Consortium*. medRxiv 2020.09.18.20192815 (2020).

Priya A, Johar K.& Wong-Riley MTT Specificity protein 4 functionally regulates the transcription of NMDA receptor subunits GluN1, GluN2A, and GluN2B. Biochim. Biophys. Acta - Mol. Cell Res 1833, 2745–2756 (2013). PubMed PMC

Ripke S.et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet 45, 1150–1159 (2013). PubMed PMC

Kirov G.et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol. Psychiatry 17, 142–153 (2012). PubMed PMC

Lek M.et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016). PubMed PMC

Fagerberg L.et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol. Cell. Proteomics 13, 397–406 (2014). PubMed PMC

Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421–427 (2014). PubMed PMC

Lam M.et al. Comparative genetic architectures of schizophrenia in East Asian and European populations. Nat. Genet (2019) doi:10.1038/s41588-019-0512-x. PubMed DOI PMC

Lam M.et al. RICOPILI: Rapid Imputation for COnsortias PIpeLIne. Bioinformatics (2019) doi:10.1093/bioinformatics/btz633. PubMed DOI PMC

Purcell S, Neale B, Todd-Brown K, Thomas L.& Ferreira MA PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 81, (2007). PubMed PMC

Devlin B.& Roeder K.Genomic Control for Association Studies. Biometrics 55, 997–1004 (1999). PubMed

Reference-based phasing using the Haplotype Reference Consortium panel. Nat. Genet 48, 1443–1448 (2016). PubMed PMC

Das S.et al. Next-generation genotype imputation service and methods. Nat. Genet 48, 1284–1287 (2016). PubMed PMC

Haplotype Reference Consortium r1.1. https://ega-archive.org/datasets/EGAD00001002729.

O’Connell J.et al. Haplotype estimation for biobank-scale data sets. Nat. Genet 48, 817–820 (2016). PubMed PMC

Bycroft C.et al. Genome-wide genetic data on ~500,000 UK Biobank participants. bioRxiv 166298 (2017) doi:10.1101/166298. DOI

Chang CC et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience 4, 7 (2015). PubMed PMC

Lee JJ et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat. Genet 50, 1112–1121 (2018). PubMed PMC

Tukiainen T.et al. Landscape of X chromosome inactivation across human tissues. Nature 550, 244–248 (2017). PubMed PMC

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748–752 (2009). PubMed PMC

Vittinghoff E.& McCulloch CE Relaxing the rule of ten events per variable in logistic and cox regression. Am. J. Epidemiol 165, 710–718 (2007). PubMed

Heinze G.& Ploner M.A SAS macro, S-PLUS library and R package to perform logistic regression without convergence problems. https://cemsiis.meduniwien.ac.at/fileadmin/user_upload/_imported/fileadmin/msi_akim/CeMSIIS/KB/programme/tr2_2004.pdf (2004).

Viechtbauer W.Conducting Meta-Analyses in R with the metafor Package. J. Stat. Softw 36, 1–48 (2010).

Lee SH, Goddard ME, Wray NR & Visscher PM A Better Coefficient of Determination for Genetic Profile Analysis. Genet. Epidemiol 36, 214–224 (2012). PubMed

Martínez-Camblor P.Fully non-parametric receiver operating characteristic curve estimation for random-effects meta-analysis. Stat. Methods Med. Res 26, 5–20 (2017). PubMed

Bigdeli TB et al. Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. Mol. Psychiatry 25, 2455–2467 (2020). PubMed PMC

Aguet F.et al. Genetic effects on gene expression across human tissues. Nature 550, 204–213 (2017). PubMed PMC

Habib N.et al. Massively parallel single-nucleus RNA-seq with DroNc-seq. Nat. Methods 14, 955–958 (2017). PubMed PMC

Skene NG et al. Genetic identification of brain cell types underlying schizophrenia. Nat. Genet 50, 825–833 (2018). PubMed PMC

Zeisel A.et al. Molecular Architecture of the Mouse Nervous System. Cell 174, 999–1014.e22 (2018). PubMed PMC

Bryois J.et al. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease. Nat. Genet 1–12 (2020) doi:10.1038/s41588-020-0610-9. PubMed DOI PMC

de Leeuw CA, Mooij JM, Heskes T.& Posthuma D.MAGMA: Generalized Gene-Set Analysis of GWAS Data. PLOS Comput. Biol 11, e1004219 (2015). PubMed PMC

Finucane HK et al. Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat. Genet 50, 621–629 (2018). PubMed PMC

Durinck S, Spellman PT, Birney E.& Huber W.Mapping identifiers for the integration of genomic datasets with the R/ Bioconductor package biomaRt. Nat. Protoc 4, 1184–1191 (2009). PubMed PMC

Maston GA, Evans SK & Green MR Transcriptional Regulatory Elements in the Human Genome. Annu. Rev. Genomics Hum. Genet 7, 29–59 (2006). PubMed

A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet 48, 1279–1283 (2016). PubMed PMC

Koopmans F.et al. SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. Neuron 103, 217–234.e4 (2019). PubMed PMC

Genovese G.et al. Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nat. Neurosci 19, 1433–1441 (2016). PubMed PMC

Pardiñas AF et al. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nat. Genet 50, 381–389 (2018). PubMed PMC

Merico D, Isserlin R, Stueker O, Emili A.& Bader GD Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation. PLoS One 5, e13984 (2010). PubMed PMC

Benner C.et al. FINEMAP: Efficient variable selection using summary data from genome-wide association studies. Bioinformatics 32, 1493–1501 (2016). PubMed PMC

Benner C.et al. Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies. Am. J. Hum. Genet 101, 539–551 (2017). PubMed PMC

Zhu Z.et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet 48, 481–487 (2016). PubMed

O’Brien HE et al. Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders. Genome Biol. 19, 194 (2018). PubMed PMC

Gandal MJ et al. Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder. Science (80-. ) 362, (2018). PubMed PMC

Võsa U.et al. Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis. bioRxiv 447367 (2018) doi:10.1101/447367. DOI

Sonnega A.et al. Cohort profile: The Health and Retirement Study (HRS). Int. J. Epidemiol 43, 576–585 (2014). PubMed PMC

Yang J, Lee SH, Goddard ME & Visscher PM GCTA: A Tool for Genome-wide Complex Trait Analysis. Am. J. Hum. Genet 88, 76–82 (2011). PubMed PMC

Yang J.et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet 44, 369–375 (2012). PubMed PMC

Gusev A.et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet 48, 245–252 (2016). PubMed PMC

Zhang W.et al. Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits. Nat. Commun 10, (2019). PubMed PMC

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