Human Growth Hormone Receptor: regulation of expression during development

Status Completed
Start date 2014
Location Quebec
Researcher Goodyer, Cindy
Associated institution The Research Institute of the McGill University Health Centre and McGill University
Summary

This project investigates how the growth hormone receptor (GHR) contributes to human development, with a particular focus on the genetics underlying idiopathic short stature (PTI). The research examines genetic variations located in regulatory regions of the GHR gene that may influence how strongly the gene is expressed. Using CARTaGENE data, the team compared adults classified as having PTI with adults of average height.
Findings show that certain genetic variants in the GHR gene are much more common in children with PTI, suggesting that these variants may reduce GHR expression and contribute to slower growth. However, these same variants did not explain short stature in the adult CARTaGENE cohort, indicating that childhood PTI and persistent short stature in adulthood may involve different biological mechanisms.
This work helps clarify genetic factors involved in growth and supports future efforts to identify biological markers that could improve the diagnosis or monitoring of children with unusually slow growth.

Themes
  • Genetics and genomics
Data types
  • Biological samples
  • Physical and cognitive measures
  • Questionnaire data

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