Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.

ABSTRACT: There is growing evidence that the great phenotypic variability in patients with cystic fibrosis (CF) not only depends on the genotype, but apart from a combination of environmental and stochastic factors predominantly also on modifier gene effects. It has been proposed that genes interacting with CF transmembrane conductance regulator (CFTR) and epithelial sodium channel (ENaC) are potential modifiers. Therefore, we assessed the impact of single-nucleotide polymorphisms (SNPs) of several of these interacters on CF disease outcome. SNPs that potentially alter gene function were genotyped in 95 well-characterized p.Phe508del homozygous CF patients. Linear mixed-effect model analysis was used to assess the relationship between sequence variants and the repeated measurements of lung function

SUBMITTER: Gisler FM 

PROVIDER: S-EPMC3598332 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature