Innovation platform in pediatric scoliosis genomics (GSP): from genes to comprehensive diagnostic tests

Status Completed
Start date 2013
Location Quebec
Researcher Moreau, Alain
Associated institution Centre Hospitalier Universitaire Sainte-Justine and Université de Montréal
Summary

Adolescent idiopathic scoliosis affects 2–3% of the adolescent population and shows highly variable clinical progression that remains difficult to predict. Previous work identified three hereditary endophenotypes based on a defect in cellular signaling pathways, but their assessment is complex and costly. This project aimed to identify genetic markers specific to each endophenotype to support the development of a prognostic genetic test. A genome-wide association study was conducted using data from individuals with scoliosis and control individuals, including data from CARTaGENE. The analyses revealed distinct chromosomal regions associated with each group, supporting the existence of differentiated genetic signatures and paving the way for more personalized management of pediatric scoliosis.

Themes
  • Genetics and genomics
  • Public health and epidemiology
Data types
  • Physical and cognitive measures
  • Questionnaire data

Related resources