1932

Abstract

▪ Abstract 

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in the Caucasian population, affecting about 30,000 individuals in the United States. The gene responsible for CF, the CF transmembrane conductance regulator (), was identified 15 years ago. Substantial variation in the many aspects of the CF phenotype among individuals with the same genotype demonstrates that factors independent of CFTR exert considerable influence on outcome in CF. To date, the majority of published studies investigating the cause of disease variability in CF report associations between candidate genes and some aspect of the CF phenotype. However, a definitive modifier gene for CF remains to be identified. Despite the challenges posed by searches for modifier effects, studies of affected twins and siblings indicate that genetic factors play a substantial role in intestinal manifestations. Identifying the factors contributing to variation in pulmonary disease, the primary cause of mortality, remains a challenge for CF research.

Loading

Article metrics loading...

/content/journals/10.1146/annurev.genom.6.080604.162254
2005-09-22
2024-11-09
Loading full text...

Full text loading...

/content/journals/10.1146/annurev.genom.6.080604.162254
Loading
/content/journals/10.1146/annurev.genom.6.080604.162254
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error