The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis.

ABSTRACT:

Background

Genetic modifiers have been identified that increase the risks of lung disease and other complications, such as diabetes in people with cystic fibrosis (CF). Variants in the hemochromatosis gene (HFE) were reported in a study of adults to be associated with worse lung disease.

Objectives

To ascertain the frequency of HFE variants, particularly C282Y (c.845G > A) and H63D (c.187C > G) and to determine if they are associated with variations in the onset and early severity of CF lung disease as well as abnormalities in iron status.

Design

We studied with whole genome sequencing and clinical outcome measures in a cohort of 104 children with CF at 5-6 years old who were previously found to show an association between aggregated genetic modifiers and an earlier o

SUBMITTER: Huang L 

PROVIDER: S-EPMC11898569 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature