Pharmacogenetic study exploring the impact of a genetic variant in the CYP2R1 gene on the response to vitamin D replacement therapy

Status Completed
Start date 2017
Location Quebec
Researcher Richards, Brent
Associated institution Jewish General Hospital, CIUSSS du Centre-Ouest de-l’Île de Montréal and McGill University
Summary

This project aimed to improve understanding of how genetic variation influences vitamin D levels and response to vitamin D supplementation. The study focused on a rare variant in the *CYP2R1* gene, which plays an important role in vitamin D metabolism. Using CARTaGENE genetic data, researchers were able to identify carriers of this variant and better characterize its frequency within the Quebec population. This work contributes to the broader field of precision medicine, which seeks to tailor prevention strategies and treatments to an individual’s genetic profile.

Themes
  • Genetics and genomics
Data types
  • Genetic data
  • Questionnaire data