Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.

Introduction And Aim: The signal transducer and activator of transcription 3 (STAT3) has been identified as one of the cystic fibrosis (CF) modifying genes. In this study, we aimed to assess the association between STAT3 genotype and CF patient survival over several decades and to investigate the effect of STAT3 inhibition on epithelial CFTR expression.

Methods: We analyzed the informative genetic marker STAT3Sat for its association with survival in 174 p.

Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene in Three Independent F508del- Homozygous Patient Populations.

encodes for a chloride and bicarbonate channel expressed at the apical membrane of polarized epithelial cells. Transepithelial sodium transport mediated by the amiloride-sensitive sodium channel ENaC is thought to contribute to the manifestation of CF disease. Thus, ENaC is a therapeutic target in CF and a valid cystic fibrosis modifier gene.