Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.

ABSTRACT:

Background

Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, and the environment. This study verified whether polymorphisms in modifier genes associated with glutathione (GSH) metabolism influence CF severity.

Methods

A cross-sectional study of 180 CF patients was carried out from 2011 to 2012. We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables.

Results

Significant associations were found between modifier gene polymorphisms and particular phenotyp

SUBMITTER: Marson FA 

PROVIDER: S-EPMC3973994 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature