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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)
Publ. Version/Full Text 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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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Interleukin-7 Receptor; Insulin; Health
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Journal Nature Communications
Quellenangaben Volume: 16, Issue: 1, Pages: , Article Number: 3750 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)
Institute of Diabetes Research (IDF)
CF Metabolomics & Proteomics (CF-MPC)
Institute of Pancreatic Islet Research (IPI)
Grants Leona M. and Harry B. Helmsley Charitable Trust
Bundesministerium für Bildung und Forschung