Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection.

ABSTRACT:

Background

Chronic sputum production impacts on quality of life and is a feature of many respiratory diseases. Identification of the genetic variants associated with chronic sputum production in a disease agnostic sample could improve understanding of its causes and identify new molecular targets for treatment.

Methods

We conducted a genome-wide association study (GWAS) of chronic sputum production in UK Biobank. Signals meeting genome-wide significance (p<5×10^-8) were investigated in additional independent studies, were fine-mapped and putative causal genes identified by gene expression analysis. GWASs of respiratory traits were interrogated to identify whether the signals were driven by existing respiratory disease among the cases and variants were further inves

SUBMITTER: Packer RJ 

PROVIDER: S-EPMC10284065 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature