Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

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

Tutino, Mauro ; Yu, Nancy Yiu-Lin ; Hatzikotoulas, Konstantinos ; Park, Young-Chan ; Kreitmaier, Peter ; Katsoula, Georgia ; Berner, Reinhard ; Casteels, Kristina ; Elding Larsson, Helena LU orcid and Kordonouri, Olga , et al. (2025) In Nature Communications 16. p.1-9
Abstract

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... (More)

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.

(Less)
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; ; ; and , et al. (More)
; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; and (Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Communications
volume
16
article number
3750
pages
1 - 9
publisher
Nature Publishing Group
external identifiers
  • scopus:105003131364
  • pmid:40263317
ISSN
2041-1723
DOI
10.1038/s41467-025-58972-3
language
English
LU publication?
yes
additional info
© 2025. The Author(s).
id
da590954-efe1-4dd5-a980-6aaedf250ba7
date added to LUP
2025-04-23 10:32:45
date last changed
2025-06-05 04:37:40
@article{da590954-efe1-4dd5-a980-6aaedf250ba7,
  abstract     = {{<p>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.</p>}},
  author       = {{Tutino, Mauro and Yu, Nancy Yiu-Lin and Hatzikotoulas, Konstantinos and Park, Young-Chan and Kreitmaier, Peter and Katsoula, Georgia and Berner, Reinhard and Casteels, Kristina and Elding Larsson, Helena and Kordonouri, Olga and Ołtarzewski, Mariusz and Szypowska, Agnieszka and Ott, Raffael and Weiss, Andreas and Winkler, Christiane and Zapardiel-Gonzalo, Jose and Petrera, Agnese and Hauck, Stefanie M and Bonifacio, Ezio and Ziegler, Anette-Gabriele and Zeggini, Eleftheria}},
  issn         = {{2041-1723}},
  language     = {{eng}},
  month        = {{04}},
  pages        = {{1--9}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Communications}},
  title        = {{Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes}},
  url          = {{http://dx.doi.org/10.1038/s41467-025-58972-3}},
  doi          = {{10.1038/s41467-025-58972-3}},
  volume       = {{16}},
  year         = {{2025}},
}