ArticleNature communications2017
Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers.
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Who cites it
128 citing papers in PubMed.
- Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.Nature communications · 2017Trial
- Beyond the gene: isoform diversity as a key contributor to human brain disorders.Current opinion in genetics & development · 2026Review
- Combined single-cell profiling of chromatin-transcriptome and splicing across brain cell types, regions and disease state.Nature biotechnology · 2026Article
- Long-read transcriptomics of purified human cortical cell types exposes glial isoform complexity and disease-relevant transcript architecture.bioRxiv : the preprint server for biology · 2026Article
- A novel machine learning-based algorithm for eQTL identification reveals complex pleiotropic effects in the MHC region.Briefings in bioinformatics · 2026Article
- Integrative Analysis of Alternative Splicing Regulation Reveals Genetic and RBP-Mediated Mechanisms in Endometriosis Pathogenesis.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- A transcriptomic dimension of neuronal and immune gene programs within the subgenual anterior cingulate cortex in schizophrenia.Translational psychiatry · 2026Article
- A causal coding variant regulating alternative splicing ofScience advances · 2026Article
- Analysis of chromatin structure reveals the connection between sQTLs and the splicing of distant genes.Scientific reports · 2025Article
- Integrating whole genome and transcriptome sequencing to characterize the genetic architecture of isoform variation.Nature communications · 2025Article
- Joint analysis of sQTL and Hi-C reveals spatial proximity between sQTLs and target genes in cancer tissues.Scientific reports · 2025Article
- Comparing loss of individual fragile X proteins suggests strong links to cellular senescence and aging.Cellular and molecular life sciences : CMLS · 2025Article
- Aberrant alternative splicing in alcoholic hepatitis: regulatory roles of RBPs and sQTLs.BMC gastroenterology · 2025Article
- Genetic determinants of monocyte splicing are enriched for disease susceptibility loci.Nature communications · 2025Article
- A single-cell, long-read, isoform-resolved case-control study of FTD reveals cell-type-specific and broad splicing dysregulation in human brain.Cell reports · 2025Article
- Impact of Confounding Factors in Human Postmortem Brain Tissues on Gene Expression Profiles: A Comparison of Patients With Schizophrenia, Bipolar Disorder, and Nonpsychiatric Controls.Neuropsychopharmacology reports · 2025Article
- A spatial long-read approach at near-single-cell resolution reveals developmental regulation of splicing and polyadenylation sites in distinct cortical layers and cell types.Nature communications · 2025Article
- Reverse engineering neuron-type-specific and type-orthogonal splicing-regulatory networks using diverse cellular transcriptomes.Cell reports · 2025Article
- Transcriptome-wide association study of alternative polyadenylation identifies susceptibility genes in non-small cell lung cancer.Oncogene · 2025Article
- Splicing regulatory dynamics for precision analysis and treatment of heterogeneous leukemias.Science translational medicine · 2025Article
68 more citing papers are in PubMed but not listed here.
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3 authors.
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Abstract
Detailed analyses of transcriptome have revealed complexity in regulation of alternative splicing (AS). These AS events often undergo modulation by genetic variants. Here we analyse RNA-sequencing data of prefrontal cortex from 206 individuals in combination with their genotypes and identify cis-acting splicing quantitative trait loci (sQTLs) throughout the genome. These sQTLs are enriched among exonic and H3K4me3-marked regions. Moreover, we observe significant enrichment of sQTLs among disease-associated loci identified by GWAS, especially in schizophrenia risk loci. Closer examination of each schizophrenia-associated loci revealed four regions (each encompasses NEK4, FXR1, SNAP91 or APOPT1), where the index SNP in GWAS is in strong linkage disequilibrium with sQTL SNP(s), suggesting dysregulation of AS as the underlying mechanism of the association signal. Our study provides an informative resource of sQTL SNPs in the human brain, which can facilitate understanding of the genetic architecture of complex brain disorders such as schizophrenia.
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