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A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
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Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes

Mauro Tutino1, Nancy Yiu-Lin Yu1, Konstantinos Hatzikotoulas1

  • 1Institute of Translational Genomics, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany.

Nature Communications
|April 22, 2025
PubMed

Insights

This study maps proteins in newborns genetically at risk for Type 1 diabetes, identifying five key proteins linked to disease development. These findings offer potential new drug targets for early intervention in this chronic autoimmune condition.

Area of Science:

  • Genetics
  • Immunology
  • Metabolomics

Background:

  • Type 1 diabetes is an autoimmune disease targeting pancreatic beta cells.
  • Early detection and intervention are crucial for managing Type 1 diabetes.
  • Circulating proteins can indicate early disease mechanisms.

Purpose of the Study:

  • To create a genome-wide protein quantitative trait loci (pQTL) map in newborns at genetic risk for Type 1 diabetes.
  • To identify proteins colocalizing with Type 1 diabetes GWAS signals.
  • To explore the causal role of identified proteins in Type 1 diabetes etiology.

Main Methods:

  • Genome-wide pQTL mapping in 695 newborns.
  • Analysis of 1985 circulating proteins.
  • Colocalization analysis and Mendelian randomization.

Main Results:

  • Identified 535 pQTLs, including 62 specific to newborns.
  • Showed colocalization of pQTLs for five proteins (CTRB1, APOBR, IL7R, CPA1, PNLIPRP1) with Type 1 diabetes GWAS signals.
  • Causally implicated these five proteins in Type 1 diabetes development.

Conclusions:

  • Newborn molecular profiles are valuable for discovering drug targets for childhood diseases.
  • Identified proteins represent potential therapeutic targets for Type 1 diabetes.
  • This research provides insights into the early molecular underpinnings of Type 1 diabetes.

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