Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

ABSTRACT: Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention of modifier genes that interact with both the CFTR gene and environmental factors. The purpose of this review is to highlight the role of non-CFTR genetic factors (modifier genes) that contribute to phenotypic variability in CF. We analyzed literature data starting with candidate gene studies and continuing with extensive studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES). The results of both types of studies revealed that the number of modifier genes in CF patients is impre

SUBMITTER: Butnariu LI 

PROVIDER: S-EPMC8707808 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature