Molecular dissection of congenital heart disease in the French Canadian population

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

This project investigated the genetic causes of congenital heart disease (CHD), a major contributor to infant mortality in Quebec. Although CHD can run in families, the specific genetic factors behind many heart defects are still not well understood.
Researchers studied families from the Saguenay–Lac-Saint-Jean (SLSJ) region where several individuals were affected by CHD. Early analyses pointed to a region on the X chromosome in one family and a mutation in the MLL3 gene in another. To determine whether similar variants appear more broadly in the population, the project expanded the analysis to a larger group of Quebec participants using exome sequencing.
Using data from CARTaGENE participants from both the SLSJ region and elsewhere in Quebec, the project aimed to confirm the involvement of these genetic regions, identify rare variants specific to the French‑Canadian population, and improve understanding of how inherited factors contribute to CHD.

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