ArticleNature genetics2019
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
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Article in Nature genetics, 2019. 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 118 papers, 7 of them syntheses that pooled it.
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118citing papers in PubMed, 7 pooled it
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Who cites it
118 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Integrating cell-type-specific gene expression and genome-wide associations identifies risk genes for schizophrenia.Molecular psychiatry · 2026Pooled it
- What genes are differentially expressed in individuals with schizophrenia? A systematic review.Molecular psychiatry · 2022Pooled it
- Genetically regulated expression in late-onset Alzheimer's disease implicates risk genes within known and novel loci.Translational psychiatry · 2021Pooled it
- Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia.BMC medicine · 2021Pooled it
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics.Science translational medicine · 2020Pooled it
- Pooled it
- Integrative multi-omics reveals MHC class II-mediated neuroinflammation and systemic metabolic dysregulation as transdiagnostic drivers in major brain disorders.Translational psychiatry · 2026Article
- Identification of hub genes involved in early-onset schizophrenia: from genetic susceptibility to predicted regulated gene expression.Molecular psychiatry · 2026Article
- [Late-onset manifestation of Tay-Sachs disease-A disease of the cerebellum and motor neurons with psychiatric sequelae].Der Nervenarzt · 2026Review
- Co-expression-based models improve eQTL predictions for transcriptome-wide association studies and highlight new schizophrenia-associated genes.Nature genetics · 2026Article
- Deciphering cell type-specific causal genetic effects on brain imaging-derived phenotypes and disorders with single-cell Mendelian randomization.PLoS computational biology · 2026Article
- Upregulation of DNA repair-related genes in the prefrontal cortex of patients with schizophrenia with low genetic risk.Schizophrenia (Heidelberg, Germany) · 2026Article
- Multi-omics approaches to major psychiatric disorders.Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und Psychiater · 2026Review
- Functional implications of polygenic risk for schizophrenia in human neurons.Nature communications · 2026Article
- Genomic meta-analyses of binge-eating behavior and anorexia nervosa yield insights into the unique and shared biology of eating disorder phenotypes.Nature. Mental health · 2026Article
- Leveraging genomic and transcriptomic data of diverse ancestry to uncover mechanisms of psychiatric risk in the adult and developing brain.Nature communications · 2025Article
- A computational genetic- and transcriptomics-based study nominates drug repurposing candidates for the treatment of chronic pain.EBioMedicine · 2025Article
- Analysis of Genomic and Transcriptomic Data Revealed Key Genes and Processes in the Development of Major Depressive Disorder.International journal of molecular sciences · 2025Article
- Multi-ancestral genome-wide study of chronic pain reveals widespread genetic correlations with mental and physical health traits.medRxiv : the preprint server for health sciences · 2025Article
58 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
32 authors.
Laura M HuckinsPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu.ORCID http://orcid.org/0000-0002-5369-6502
Amanda DobbynPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Douglas M RuderferVanderbilt University Medical Center, Nashville, TN, USA.
Gabriel HoffmanPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-0957-0224
Weiqing WangPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Antonio F PardiñasMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-6845-7590
Veera M RajagopalDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-5236-168X
Thomas D AlsDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2963-1928
Hoang T NguyenPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Kiran GirdharPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
James BoocockDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Panos RoussosPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-4640-6239
Menachem FromerPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-3749-4342
Robin KramerHuman Brain Collection Core, National Institute of Mental Health, Bethesda, MD, USA.
Enrico DomeniciLaboratory of Neurogenomic Biomarkers, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy.ORCID http://orcid.org/0000-0001-7436-6919
Eric R GamazonVanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-4204-8734
Shaun PurcellPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-7402-5812
CommonMind Consortium
Schizophrenia Working Group of the Psychiatric Genomics Consortium
iPSYCH-GEMS Schizophrenia Working Group
Ditte DemontisDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-9124-2766
Anders D BørglumDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-8627-7219
James T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-6980-4053
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-7073-2379
Patrick SullivanUniversity of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0002-6619-873X
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0003-4798-0862
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh, Pittsburgh, PA, USA.
Solveig K SiebertsSystems Biology, Sage Bionetworks, Seattle, WA, USA.ORCID http://orcid.org/0000-0003-1033-0954
Nancy J CoxVanderbilt University Medical Center, Nashville, TN, USA.
Hae Kyung ImSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0003-0333-5685
Pamela SklarPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Eli A StahlPamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-1192-0561
Funding
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1MEPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3MVESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GROSSMAN, HILLEL · 1985 to 2019
$37.9MRISK FACTORS, PATHOLOGY, AND CLINICAL EXPRESSIONS OF ADR01AG015819 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1998 to 2024
$21.4MQUANTITATIVE ANALYSIS OF MICROVASCULAR CHANGES IN THE AGING BRAINP01AG002219 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI HAROUTUNIAN, VAHRAM · 1985 to 2009
$19.2MWhite Matter Abnormalities in SchizophreniaP50MH066392 · NIMH · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI O'DONOVAN, MICHAEL J · 2002 to 2012
$18.6MGenomic Psychiatry CohortR01MH085548 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI PATO, CARLOS N, PATO, MICHELE T · 2008 to 2012
$16.3MTranscriptional Atlas of Human Brain DevelopmentRC2MH089921 · NIMH · ALLEN INSTITUTE · PI FISCHL, BRUCE, GESCHWIND, DANIEL H · 2009 to 2010
$16.2MPathway discovery, validation and compound identification for Alzheimer's disease - SupplementU01AG046152 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BENNETT, DAVID ALAN, DE JAGER, PHILIP L · 2013 to 2017
$13.6MProject 5: In vivo measurement of GABA transmission in healthy controls & subjectP50MH084053 · NIMH · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEWIS, DAVID A · 2008 to 2012
$11.5MInternational Cohort Collection for Bipolar DisorderR01MH085542 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SMOLLER, JORDAN W · 2008 to 2012
$10.7MMedical Research Council MR/L010305/1Medical Research Council MR/P005748/1NIA NIH HHS P01 AG002219NIA NIH HHS P30 AG010161NIA NIH HHS P50 AG005138NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG036836NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG046152NIMH NIH HHS P50 MH066392NIMH NIH HHS P50 MH084053NIMH NIH HHS R01 MH057881NIMH NIH HHS R01 MH075916NIMH NIH HHS R01 MH080405NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH085548NIMH NIH HHS R01 MH093725NIMH NIH HHS R01 MH097276NIMH NIH HHS R01 MH107666NIMH NIH HHS R01 MH118278NIMH NIH HHS R37 MH057881NIMH NIH HHS RC2 MH089921NIMH NIH HHS RC2 MH089929NIMH NIH HHS RC2 MH090047NIMH NIH HHS U01 MH109536
Abstract
Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.
Indexed as
BrainCase-Control StudiesGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideQuantitative Trait LociRiskSchizophreniaTranscriptome
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