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  • Viñuela, AnaUniversity of Geneva Medical School (author)

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • 2020-09-30
  • Springer Science and Business Media LLC,2020

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:0c14af81-5316-4d3f-b1cf-c300b2581719
  • https://lup.lub.lu.se/record/0c14af81-5316-4d3f-b1cf-c300b2581719URI
  • https://doi.org/10.1038/s41467-020-18581-8DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, key tissues and cell-types required for functional inference are absent from large-scale resources. Here we explore the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic traits, and human pancreatic islet transcription using data from 420 donors. We find: (a) 7741 cis-eQTLs in islets with a replication rate across 44 GTEx tissues between 40% and 73%; (b) marked overlap between islet cis-eQTL signals and active regulatory sequences in islets, with reduced eQTL effect size observed in the stretch enhancers most strongly implicated in GWAS signal location; (c) enrichment of islet cis-eQTL signals with T2D risk variants identified in genome-wide association studies; and (d) colocalization between 47 islet cis-eQTLs and variants influencing T2D or glycemic traits, including DGKB and TCF7L2. Our findings illustrate the advantages of performing functional and regulatory studies in disease relevant tissues.

Subject headings and genre

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  • Prasad, Rashmi BLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-rpa (author)
  • Asplund, OlofLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-oap (author)
  • Bennett, AmandaOxford University Press (author)
  • Boehnke, MichaelWestern Michigan University (author)
  • Brown, Andrew AUniversity of Geneva Medical School (author)
  • Erdos, Michael RNational Institutes Of Health Clinical Center (author)
  • Fadista, JoãoLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,Danish Serum Institute, Copenhagen(Swepub:lu)med-jft (author)
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  • Hatem, GadLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital(Swepub:lu)ga5503ha (author)
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  • Iyengar, Apoorva KNorth Carolina State University (author)
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  • Krus, UlrikaLund University,Lunds universitet,Diabetes - öpatofysiologi,Forskargrupper vid Lunds universitet,Diabetes - Islet Patophysiology,Lund University Research Groups,Skåne University Hospital(Swepub:lu)medk-ufr (author)
  • MacDonald, Patrick EUniversity of Alberta Hospital,University of Alberta(Swepub:lu)mphy-pma (author)
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  • Manning Fox, Jocelyn EUniversity of Alberta Hospital (author)
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  • Panousis, Nikolaos IUniversity of Geneva Medical School (author)
  • Payne, AnthonyOxford University Press (author)
  • Stitzel, Michael LUniversity of Connecticut (author)
  • Vadlamudi, SwarooparaniNorth Carolina State University (author)
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  • Collins, Francis SNational Institutes Of Health Clinical Center (author)
  • Mohlke, Karen LNorth Carolina State University (author)
  • Gloyn, Anna LOxford University Press (author)
  • Scott, Laura JWestern Michigan University (author)
  • Dermitzakis, Emmanouil TUniversity of Geneva Medical School (author)
  • Groop, LeifLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,Institute for Molecular Medicine Finland (FIMM)(Swepub:lu)endo-lgr (author)
  • Parker, Stephen C JWestern Michigan University (author)
  • McCarthy, Mark IOxford University Press (author)
  • University of Geneva Medical SchoolWestern Michigan University (creator_code:org_t)

Related titles

  • In:Nature Communications: Springer Science and Business Media LLC11:1, s. 4912-49122041-1723

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