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Tutino, M. ; Yu, N.Y.-L. ; Hatzikotoulas, K. ; Park, Y.-C. ; Kreitmaier, P. ; Katsoula, G. ; Berner, R.* ; Casteels, K.* ; Elding Larsson, H.* ; Kordonouri, O.* ; Ołtarzewski, M.* ; Szypowska, A.* ; Ott, R. ; Weiss, A. ; Winkler, C. ; Zapardiel-Gonzalo, J. ; Petrera, A. ; Hauck, S.M. ; Bonifacio, E. ; Ziegler, A.-G. ; Zeggini, E.

Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes.

Nat. Commun. 16:3750 (2025)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Type 1 diabetes is a chronic, autoimmune disease characterized by the destruction of insulin-producing β-cells in the pancreas. Early detection can facilitate timely intervention, potentially delaying or preventing disease onset. Circulating proteins reflect dysregulated biological processes and offer insights into early disease mechanisms. Here, we construct a genome-wide pQTL map of 1985 proteins in 695 newborn babies (median age 2 days) at increased genetic risk of developing Type 1 diabetes. We identify 535 pQTLs (352 cis-pQTLs, 183 trans-pQTLs), 62 of which characteristic of newborns. We show colocalization of pQTLs for CTRB1, APOBR, IL7R, CPA1, and PNLIPRP1 with Type 1 diabetes GWAS signals, and Mendelian randomization causally implicates each of these five proteins in the aetiology of Type 1 diabetes. Our study illustrates the utility of newborn molecular profiles for discovering potential drug targets for childhood diseases of significant concern.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Interleukin-7 Receptor; Insulin; Health
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 16, Heft: 1, Seiten: , Artikelnummer: 3750 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)
Institute of Diabetes Research (IDF)
CF Metabolomics & Proteomics (CF-MPC)
Institute of Pancreatic Islet Research (IPI)
Förderungen Leona M. and Harry B. Helmsley Charitable Trust
Bundesministerium für Bildung und Forschung