Gene Environment Interactions

Abstract

People with cystic fibrosis express significant variability in their clinical phenotype, despite the disease being caused by mutations in a single gene. To inform efforts to reduce or prevent disease burden, there is a strong desire to understand what factors are associated with disease severity. This chapter will: (1) cover the evidence showing that variability in cystic fibrosis lung disease is caused by both non-CFTR genetic and environmental factors, (2) describe some of the environmental factors which influence cystic fibrosis lung disease, and finally (3) provide evidence for gene environment interactions. Together this will highlight the complexity of the processes which interact to determine cystic fibrosis disease severity.