11.4 Genetic effects on gene expression


Why does expression for the same gene vary across individuals?

There are many factors that can contribute to variability in gene expression in a population:

  • Environment (ex: diet, climate, disease)
  • Stochasticity/noise
  • Epigenetics (methylation, repressive/activating histone marks)
  • Genetics (genetic variants in promoter, enhancer, etc. sequences)


How do we discover genetic variants that influence gene expression?

We can perform a genome-wide association study, similar to what we would do for an organismal phenotype like height. This time, our phenotype is the expression of a specific gene, and we can search for genetic variants that impact this expression.