Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.

ABSTRACT: Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the exocrine pancreatic status, most studies agree that there is little association between CFTR variants and disease phenotypes. Environmental factors have been shown to contribute to this heterogeneity, accounting for almost 50% of the variability of the lung function of pwCF. Nevertheless, pwCF with similar CFTR variants and sharing the same environment (such as in siblings) may have highly variable clinical manifestations not explained by CFTR variants, and only partly explained by environmental factors. It is recognized

SUBMITTER: Mesinele J 

PROVIDER: S-EPMC9698440 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature