Genome-wide association study of preserved ratio impaired spirometry (PRISm).

ABSTRACT:

Background

Preserved ratio impaired spirometry (PRISm) is defined as a forced expiratory volume in 1 s (FEV₁) <80% predicted and FEV₁/forced vital capacity ≥0.70. PRISm is associated with respiratory symptoms and comorbidities. Our objective was to discover novel genetic signals for PRISm and see if they provide insight into the pathogenesis of PRISm and associated comorbidities.

Methods

We undertook a genome-wide association study (GWAS) of PRISm in UK Biobank participants (Stage 1), and selected single nucleotide polymorphisms (SNPs) reaching genome-wide significance for replication in 13 cohorts (Stage 2). A combined meta-analysis of Stage 1 and Stage 2 was done to determine top SNPs. We used cross-trait linkage disequilibrium score regression to est

SUBMITTER: Higbee DH 

PROVIDER: S-EPMC10765494 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature