ArticleNature communications2019
Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 5 of them syntheses that pooled it.
What it found
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Who cites it
82 citing papers in PubMed, 5 syntheses or guidelines pooled it, 126 citations in OpenAlex.
- Altered Expression of GABA-Related Genes in Schizophrenia: Insights from Meta-Analyses of Brain and Blood Samples and iPSC-Derived Organoids.Alpha psychiatry · 2026Pooled it
- Cross-ancestry genome-wide association study and systems-level integrative analyses implicate new risk genes and therapeutic targets for depression.Nature human behaviour · 2025Pooled it
- Gene-level analysis reveals the genetic aetiology and therapeutic targets of schizophrenia.Nature human behaviour · 2025Pooled it
- Genome-wide meta-analysis, functional genomics and integrative analyses implicate new risk genes and therapeutic targets for anxiety disorders.Nature human behaviour · 2024Pooled it
- A Systematic Review of the Human Accelerated Regions in Schizophrenia and Related Disorders: Where the Evolutionary and Neurodevelopmental Hypotheses Converge.International journal of molecular sciences · 2023Pooled it
- Cognitive benefits of folic acid supplementation during pregnancy track with epigenetic changes at an imprint regulator.BMC medicine · 2024Trial
- Personalized single-cell transcriptomics reveals molecular diversity in Alzheimer's disease.Nature communications · 2026Article
- Molecular regulatory mechanisms of schizophrenia-associated functional non-coding variants.Molecular psychiatry · 2026Article
- Fine-mapping candidate neuropsychiatric regulatory variants using cell type-aware comparative genomics.bioRxiv : the preprint server for biology · 2026Article
- Schizophrenia risk variants modulate transcription factor binding and gene expression in cortical cell types.Cellular and molecular life sciences : CMLS · 2026Article
- Biological underpinnings and genetic predisposition to schizophrenia within microrna-137 regulatory pathways across brain development.Translational psychiatry · 2026Article
- Functional variants at 1p36.23 confer risk of schizophrenia through modulating RERE.Nature communications · 2026Article
- Functional implications of polygenic risk for schizophrenia in human neurons.Nature communications · 2026Article
- First computational characterization ofFrontiers in neuroscience · 2026Article
- A Regulator SNP Affecting the Transcription FactorHuman mutation · 2026Article
- Transcription factors and candidate functional SNPs associated with variation in fatty acid composition from skeletal muscle of pigs.Animal genetics · 2025Article
- Interleukin-5, Eosinophil, and Immunoglobulin A Levels in Schizophrenia Patients.Alpha psychiatry · 2025Article
- Differential gene expression study in whole blood identifies candidate genes for psychosis in African American individuals.Schizophrenia research · 2025Article
- Transcriptional Regulators in the Cerebellum in Chronic Schizophrenia: Novel Possible Targets for Pharmacological Interventions.International journal of molecular sciences · 2025Article
- Identification of Schizophrenia-Risk Regulatory Variant rs1399178 in the Non-coding Region With Its Impact on NRF1 Binding.CNS neuroscience & therapeutics · 2025Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Genome-wide association studies (GWASs) have identified over 180 independent schizophrenia risk loci. Nevertheless, how the risk variants in the reported loci confer schizophrenia susceptibility remains largely unknown. Here we systematically investigate the gene regulatory mechanisms underpinning schizophrenia risk through integrating data from functional genomics (including 30 ChIP-Seq experiments) and position weight matrix (PWM). We identify 132 risk single nucleotide polymorphisms (SNPs) that disrupt transcription factor binding and we find that 97 of the 132 TF binding-disrupting SNPs are associated with gene expression in human brain tissues. We validate the regulatory effect of some TF binding-disrupting SNPs with reporter gene assays (9 SNPs) and allele-specific expression analysis (10 SNPs). Our study reveals gene regulatory mechanisms affected by schizophrenia risk SNPs (including widespread disruption of POLR2A and CTCF binding) and identifies target genes for mechanistic studies and drug development. Our results can be accessed and visualized at SZDB database ( http://www.szdb.org/ ).
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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.