| Title: | Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes |
| Journal: | Nature Communications |
| Published: | 22 Apr 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40263317/ |
| DOI: | https://doi.org/10.1038/s41467-025-58972-3 |
| URL: | https://www.nature.com/articles/s41467-025-58972-3.pdf |
Publication 15788
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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 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>
11 Keywords
- Blood Proteins
- Diabetes Mellitus, Type 1
- Female
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Humans
- Infant, Newborn
- Male
- Mendelian Randomization Analysis
- Polymorphism, Single Nucleotide
- Quantitative Trait Loci
21 Authors
- Mauro Tutino
- Nancy Yiu-Lin Yu
- Konstantinos Hatzikotoulas
- Young-Chan Park
- Peter Kreitmaier
- Georgia Katsoula
- Reinhard Berner
- Kristina Casteels
- Helena Elding Larsson
- Olga Kordonouri
- Mariusz Ołtarzewski
- Agnieszka Szypowska
- Raffael Ott
- Andreas Weiss
- Christiane Winkler
- Jose Zapardiel-Gonzalo
- Agnese Petrera
- Stefanie M. Hauck
- Ezio Bonifacio
- Anette-Gabriele Ziegler
- Eleftheria Zeggini
1 Application
| Application ID | Title |
|---|---|
| 10205 | Cardiometabolic trait genetics |
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