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  • Alonso, LorenaCentro Nacional de Supercomputación (author)

TIGER : The gene expression regulatory variation landscape of human pancreatic islets

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • Elsevier BV,2021

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:59af1f95-4fad-47cc-8239-8adbb9999bfa
  • https://lup.lub.lu.se/record/59af1f95-4fad-47cc-8239-8adbb9999bfaURI
  • https://doi.org/10.1016/j.celrep.2021.109807DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic islet genotype tissue-expression resource (TIGER), aggregating >500 human islet genomic datasets from five cohorts in the Horizon 2020 consortium T2DSystems. We impute genotypes using four reference panels and meta-analyze cohorts to improve the coverage of expression quantitative trait loci (eQTL) and develop a method to combine allele-specific expression across samples (cASE). We identify >1 million islet eQTLs, 53 of which colocalize with T2D signals. Among them, a low-frequency allele that reduces T2D risk by half increases CCND2 expression. We identify eight cASE colocalizations, among which we found a T2D-associated SLC30A8 variant. We make all data available through the TIGER portal (http://tiger.bsc.es), which represents a comprehensive human islet genomic data resource to elucidate how genetic variation affects islet function and translates into therapeutic insight and precision medicine for T2D.

Subject headings and genre

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

  • Piron, AnthonyUniversité Libre de Bruxelles (ULB) (author)
  • Morán, IgnasiCentro Nacional de Supercomputación (author)
  • Guindo-Martínez, MartaCentro Nacional de Supercomputación (author)
  • Bonàs-Guarch, SílviaBarcelona Institute of Science and Technology (author)
  • Atla, GouthamBarcelona Institute of Science and Technology (author)
  • Miguel-Escalada, IreneBarcelona Institute of Science and Technology (author)
  • Royo, RominaCentro Nacional de Supercomputación (author)
  • Puiggròs, MontserratCentro Nacional de Supercomputación (author)
  • Garcia-Hurtado, XavierBarcelona Institute of Science and Technology (author)
  • Suleiman, MaraUniversity of Pisa (author)
  • Marselli, LorellaUniversity of Pisa (author)
  • Esguerra, Jonathan L SLund University,Lunds universitet,Diabetes - öcellsexocytos,Forskargrupper vid Lunds universitet,Diabetes - Islet Cell Exocytosis,Lund University Research Groups(Swepub:lu)med-jer (author)
  • Turatsinze, Jean-ValéryUniversité Libre de Bruxelles (ULB) (author)
  • Torres, Jason MUniversity of Oxford (author)
  • Nylander, Vibe (author)
  • Chen, JiUniversity of Exeter (author)
  • Eliasson, LenaLund University,Lunds universitet,Diabetes - öcellsexocytos,Forskargrupper vid Lunds universitet,Diabetes - Islet Cell Exocytosis,Lund University Research Groups(Swepub:lu)mphy-lel (author)
  • Defrance, MatthieuUniversité Libre de Bruxelles (ULB) (author)
  • Amela, RamonCentro Nacional de Supercomputación (author)
  • Mulder, HindrikLund University,Lunds universitet,Diabetes - molekylär metabolism,Forskargrupper vid Lunds universitet,Diabetes - Molecular Metabolism,Lund University Research Groups(Swepub:lu)medk-hmu (author)
  • Gloyn, Anna LStanford Diabetes Research Centre (author)
  • Groop, LeifLund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Institute for Molecular Medicine Finland (FIMM)(Swepub:lu)endo-lgr (author)
  • Marchetti, PieroUniversity of Pisa (author)
  • Eizirik, Decio L (author)
  • Ferrer, JorgeBarcelona Institute of Science and Technology (author)
  • Mercader, Josep MBroad Institute (author)
  • Cnop, Miriam (author)
  • Torrents, DavidCentro Nacional de Supercomputación (author)
  • Centro Nacional de SupercomputaciónUniversité Libre de Bruxelles (ULB) (creator_code:org_t)
  • Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)

Related titles

  • In:Cell Reports: Elsevier BV37:22211-1247

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