ArticleGenome biology2022
Genetic regulation of RNA splicing in human pancreatic islets.
Article in Genome biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 32 citations in OpenAlex.
- Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.Nature genetics · 2026Article
- TWAS atlas 2.0: an updated data resource for transcriptome-wide association studies.Nucleic acids research · 2026Article
- From Human to Mouse and Back Again: Genetic and Genomic Ta(i)les of Islet Dysfunction in Type 2 Diabetes.Annual review of genetics · 2025Review
- A basic framework to explain splice-site choice in eukaryotes.Nature communications · 2025Article
- HNF1A and A1CF coordinate a beta cell transcription-splicing axis that is disrupted in type 2 diabetes.Cell metabolism · 2025Article
- Alternative Splicing Regulation in Metabolic Disorders.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025Review
- Cell-type-specific cis-eQTLs in pancreatic cell types identify novel risk genes for type 2 diabetes.Briefings in bioinformatics · 2025Article
- Improving cellular fitness of human stem cell-derived islets under hypoxia.Nature communications · 2025Article
- Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes.Nature communications · 2025Article
- Temporal phosphoproteomics reveals circuitry of phased propagation in insulin signaling.Nature communications · 2025Article
- Single-cell splicing QTL analysis in pancreatic islets.Frontiers in bioinformatics · 2025Article
- Cross-tissue transcriptome-wide association identify novel T1D susceptibility genes and drug candidates.Frontiers in immunology · 2025Article
- Integration of multi-omics transcriptome-wide analysis for the identification of novel therapeutic drug targets in diabetic retinopathy.Journal of translational medicine · 2024Article
- Optimized Proteomic Analysis of Insulin Granules From MIN6 Cells Identifies Scamp3, a Novel Regulator of Insulin Secretion and Content.Diabetes · 2024Article
- Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology.Nature metabolism · 2024Article
- Untangling the genetics of beta cell dysfunction and death in type 1 diabetes.Molecular metabolism · 2024Review
- Regulation of endocrine cell alternative splicing revealed by single-cell RNA sequencing in type 2 diabetes pathogenesis.Communications biology · 2024Article
- Transcription regulation by long non-coding RNAs: mechanisms and disease relevance.Nature reviews. Molecular cell biology · 2024Review
- Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Genomic insights into the comorbidity between type 2 diabetes and schizophrenia.Schizophrenia (Heidelberg, Germany) · 2024Article
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Authors and funding
20 authors at 11 institutions in 8 countries.
Funding
Abstract
backgroundNon-coding genetic variants that influence gene transcription in pancreatic islets play a major role in the susceptibility to type 2 diabetes (T2D), and likely also contribute to type 1 diabetes (T1D) risk. For many loci, however, the mechanisms through which non-coding variants influence diabetes susceptibility are unknown.
resultsWe examine splicing QTLs (sQTLs) in pancreatic islets from 399 human donors and observe that common genetic variation has a widespread influence on the splicing of genes with established roles in islet biology and diabetes. In parallel, we profile expression QTLs (eQTLs) and use transcriptome-wide association as well as genetic co-localization studies to assign islet sQTLs or eQTLs to T2D and T1D susceptibility signals, many of which lack candidate effector genes. This analysis reveals biologically plausible mechanisms, including the association of T2D with an sQTL that creates a nonsense isoform in ERO1B, a regulator of ER-stress and proinsulin biosynthesis. The expanded list of T2D risk effector genes reveals overrepresented pathways, including regulators of G-protein-mediated cAMP production. The analysis of sQTLs also reveals candidate effector genes for T1D susceptibility such as DCLRE1B, a senescence regulator, and lncRNA MEG3.
conclusionsThese data expose widespread effects of common genetic variants on RNA splicing in pancreatic islets. The results support a role for splicing variation in diabetes susceptibility, and offer a new set of genetic targets with potential therapeutic benefit.
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