Genetic interaction of GSH metabolic pathway genes in cystic fibrosis.

ABSTRACT:

Background

Cystic fibrosis (CF) is a monogenic disease caused by CFTR gene mutations, with clinical expression similar to complex disease, influenced by genetic and environmental factors. Among the possible modifier genes, those associated to metabolic pathways of glutathione (GSH) have been considered as potential modulators of CF clinical severity. In this way it is of pivotal importance investigate gene polymorphisms at Glutamate-Cysteine Ligase, Catalytic Subunit (GCLC), Glutathione S-transferase Mu 1 (GSTM1), Glutathione S-transferase Theta 1 (GSTT1), and Glutathione S-transferase P1 (GSTP1), which have been associated to the GSH metabolic pathway and CF clinical severity.

Method

A total of 180 CF's patients were included in this study, which investigated polymorphisms

SUBMITTER: de Lima Marson FA 

PROVIDER: S-EPMC3685592 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature