Performance of polygenic risk scores for type 1 diabetes diagnosed in adulthood

Status Ongoing
Start date 2026
Location Quebec
Researcher Manousaki, Despoina
Associated institution Centre Hospitalier Universitaire Sainte-Justine et Université de Montréal
Summary

Type 1 diabetes is often considered a childhood disease, but it can also develop in adulthood. In adults, it is frequently misclassified as type 2 diabetes, which can delay access to the most appropriate treatment. This project aims to evaluate the usefulness of polygenic risk scores—tools that combine the effects of many genetic variants—to improve the identification and classification of type 1 diabetes in adults. Using data from several large cohorts, including CARTaGENE, the research team will compare different genetic risk scores to determine how well they distinguish adult-onset type 1 diabetes from type 2 diabetes and from a specific form of autoimmune diabetes known as latent autoimmune diabetes in adults (LADA). Particular attention will be paid to the performance of these tools across people with diverse ancestral backgrounds. Ultimately, this research could support earlier and more accurate diagnosis, improve disease management, and help identify individuals who may benefit from new therapies designed to delay the progression of type 1 diabetes.

Themes
  • Chronic diseases
  • Genetics and genomics
Data types
  • Biochemical and hematological data
  • Genetic data
  • Physical and cognitive measures
  • Questionnaire data