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Piron, A.* ; Szymczak, F.* ; Folon, L.* ; Crouch, D.J.M.* ; Papadopoulou, T.* ; Lytrivi, M.* ; Tong, Y.* ; Alvelos, M.I.* ; Colli, M.L.* ; Yi, X.* ; Pekalski, M.L.* ; Hatzikotoulas, K. ; Huerta-Chagoya, A.* ; Taylor, H.J.* ; Defrance, M.* ; Todd, J.A.* ; Eizirik, D.L.* ; Mercader, J.M.* ; Cnop, M.*

Identification of novel type 1 and type 2 diabetes genes by co-localization of human islet eQTL and GWAS variants with colocRedRibbon.

Cell Genom., DOI: 10.1016/j.xgen.2025.101004:101004 (2025)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Over 1,000 genetic variants have been associated with diabetes by genome-wide association studies (GWASs), but for most, their functional impact is unknown; only 7% alter gene expression in pancreatic islets in expression quantitative trait locus (eQTL) studies. To fill this gap, we developed a co-localization pipeline, colocRedRibbon, that prefilters eQTLs by the direction of effect on gene expression and shortlists overlapping eQTL and GWAS variants prior to co-localization. Applying colocRedRibbon to recent diabetes and glycemic trait GWASs, we identified 292 co-localizing gene regions, including 24 co-localizations for type 1 diabetes and 268 for type 2 diabetes and glycemic traits, representing a 4-fold increase. A low-frequency type 2 diabetes protective variant increases islet MYO5C expression, and a type 1 diabetes protective variant increases FUT2 expression. These novel co-localizations advance the understanding of diabetes genetics and its impact on human islet biology. colocRedRibbon has broad applicability to co-localize GWASs and various QTLs.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Gwas ; Co-localization ; Colocredribbon ; Diabetes ; Eqtl ; Genetics ; Glycemic Traits ; Insulin ; Meqtl ; Multi-ancestry ; Pqtl ; Pancreatic Islets ; β Cells
Sprache englisch
Veröffentlichungsjahr 2025
HGF-Berichtsjahr 2025
ISSN (print) / ISBN 2666-979X
e-ISSN 2666-979X
Zeitschrift Cell Genomics
Quellenangaben Band: , Heft: , Seiten: , Artikelnummer: 101004 Supplement: ,
Verlag Elsevier
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-506700-001
DOI 10.1016/j.xgen.2025.101004
Scopus ID 105018019079
PubMed ID 40961947
Erfassungsdatum 2025-11-04
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