ArticleNature genetics2014
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 339 papers, 6 of them syntheses that pooled it.
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Who cites it
339 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes.Human molecular genetics · 2022Pooled it
- Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation.Nature genetics · 2022Pooled it
- Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study.Diabetologia · 2022Pooled it
- TIGER: The gene expression regulatory variation landscape of human pancreatic islets.Cell reports · 2021Pooled it
- Mechanistic Characterization ofFrontiers in immunology · 2019Pooled it
- Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.Nature communications · 2018Pooled it
- The role of epigenetic signatures in type 2 diabetes: therapeutic advances and lifestyle interventions.Acta diabetologica · 2026Review
- Human β-Cell Dedifferentiation and Diabetes.Journal of diabetes · 2026Review
- Integrative Clinical and Functional Characterization of theDiagnostics (Basel, Switzerland) · 2026Article
- Pancreatic islet α cell function and proliferation require the arginine transporter SLC7A2.The Journal of clinical investigation · 2026Article
- Cell-specific DNA methylation in human alpha and beta cells regulates gene expression in type 2 diabetes.Nature metabolism · 2026Article
- Epigenetic adaptation of beta cells across lifespan and disease.Nature metabolism · 2026Article
- Mitochondria as Epigenetic Regulators of β-Cell Identity and Plasticity: A Metabolo-Epigenetic Perspective.Cells · 2026Review
- The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.Cell reports · 2026Article
- Enhancer-mediated Etv4 activation stimulates osteogenic differentiation.Nature communications · 2026Article
- Predictive prioritization of enhancers associated with pancreatic disease risk.Cell genomics · 2026Article
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- Identification of novel type 1 and type 2 diabetes genes by co-localization of human islet eQTL and GWAS variants with colocRedRibbon.Cell genomics · 2025Article
- CHD3 and CHD4 coordinate gene expression programs to maintain β-cell function and identityResearch square · 2025Article
- 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
279 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors.
Funding
Abstract
Type 2 diabetes affects over 300 million people, causing severe complications and premature death, yet the underlying molecular mechanisms are largely unknown. Pancreatic islet dysfunction is central in type 2 diabetes pathogenesis, and understanding islet genome regulation could therefore provide valuable mechanistic insights. We have now mapped and examined the function of human islet cis-regulatory networks. We identify genomic sequences that are targeted by islet transcription factors to drive islet-specific gene activity and show that most such sequences reside in clusters of enhancers that form physical three-dimensional chromatin domains. We find that sequence variants associated with type 2 diabetes and fasting glycemia are enriched in these clustered islet enhancers and identify trait-associated variants that disrupt DNA binding and islet enhancer activity. Our studies illustrate how islet transcription factors interact functionally with the epigenome and provide systematic evidence that the dysregulation of islet enhancers is relevant to the mechanisms underlying type 2 diabetes.
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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.