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  • Miguel-Escalada, IreneImperial College London (author)

Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • 2019-06-28
  • Springer Science and Business Media LLC,2019

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:d45e1c41-be15-4fb6-bbac-195fe0d5b7d2
  • https://lup.lub.lu.se/record/d45e1c41-be15-4fb6-bbac-195fe0d5b7d2URI
  • https://doi.org/10.1038/s41588-019-0457-0DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clusters or super-enhancers. So far, such domains have been defined through clustering of enhancers in linear genome maps rather than in three-dimensional (3D) space. Furthermore, their target genes are often unknown. We have created promoter capture Hi-C maps in human pancreatic islets. This linked diabetes-associated enhancers to their target genes, often located hundreds of kilobases away. It also revealed >1,300 groups of islet enhancers, super-enhancers and active promoters that form 3D hubs, some of which show coordinated glucose-dependent activity. We demonstrate that genetic variation in hubs impacts insulin secretion heritability, and show that hub annotations can be used for polygenic scores that predict T2D risk driven by islet regulatory variants. Human islet 3D chromatin architecture, therefore, provides a framework for interpretation of T2D genome-wide association study (GWAS) signals.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Bonàs-Guarch, SilviaImperial College London (author)
  • Cebola, InêsImperial College London (author)
  • Ponsa-Cobas, JoanImperial College London (author)
  • Mendieta-Esteban, JulenCenter for Genomic Regulation (CRG) (author)
  • Atla, GouthamImperial College London,Center for Genomic Regulation (CRG) (author)
  • Javierre, Biola M.University of Cambridge (author)
  • Rolando, Delphine M.Y.Imperial College London (author)
  • Farabella, IreneCenter for Genomic Regulation (CRG) (author)
  • Morgan, Claire C.Imperial College London,Center for Genomic Regulation (CRG) (author)
  • García-Hurtado, JavierCenter for Genomic Regulation (CRG) (author)
  • Beucher, AnthonyImperial College London (author)
  • Morán, IgnasiImperial College London,Center for Genomic Regulation (CRG) (author)
  • Pasquali, LorenzoHospital Universitari Germans Trias i Pujol (author)
  • Ramos-Rodríguez, MireiaHospital Universitari Germans Trias i Pujol (author)
  • Appel, Emil V.R.University of Copenhagen (author)
  • Linneberg, AllanUniversity of Copenhagen,Frederiksberg Hospital (author)
  • Gjesing, Anette P.University of Copenhagen (author)
  • Witte, Daniel R.Danish Diabetes Academy,Aarhus University (author)
  • Pedersen, OlufUniversity of Copenhagen (author)
  • Grarup, NielsUniversity of Copenhagen (author)
  • Ravassard, PhilippeParis-Sorbonne University (author)
  • Torrents, DavidCenter for Genomic Regulation (CRG),Catalan Institution for Research and Advanced Studies (author)
  • Mercader, Josep M.Center for Genomic Regulation (CRG),Massachusetts General Hospital,Broad Institute (author)
  • Piemonti, LorenzoSan Raffaele Scientific Institute,Vita-Salute San Raffaele University (author)
  • Berney, ThierryUniversity of Geneva (author)
  • de Koning, Eelco J.P.Hubrecht Institute,Leiden University Medical Centre (author)
  • Kerr-Conte, JulieEuropean Genome Institute for Diabetes (EGID) UMR 8199 (author)
  • Pattou, FrançoisEuropean Genome Institute for Diabetes (EGID) UMR 8199 (author)
  • Fedko, Iryna O.Vrije Universiteit Amsterdam (author)
  • Groop, LeifLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,LUBIN Lab- Lunds laboratorium för neurokirurgisk hjärnskadeforskning,Translational Muscle Research,Lund University Research Groups,LUBIN Lab- Lund Brain Injury laboratory for Neurosurgical research(Swepub:lu)endo-lgr (author)
  • Prokopenko, IngaImperial College London,University of Surrey (author)
  • Hansen, TorbenUniversity of Copenhagen (author)
  • Marti-Renom, Marc A.Catalan Institution for Research and Advanced Studies,Pompeu Fabra University,Center for Genomic Regulation (CRG) (author)
  • Fraser, PeterFlorida State University (author)
  • Ferrer, JorgeCenter for Genomic Regulation (CRG),Imperial College London (author)
  • Imperial College LondonCenter for Genomic Regulation (CRG) (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC51:7, s. 1137-11481061-40361546-1718

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