Genome-wide analysis in over 1.6 million participants uncovers 147 loci associated with obstructive sleep apnoea.

ABSTRACT: We conducted the largest GWAS meta-analysis for obstructive sleep apnoea (OSA; N_cases= 230,657; N_controls= 1,377,442) using European ancestry genetic data from five countries. We identified 147 independent loci associated with OSA, and estimated SNP-based heritability at 16%. We report six independent loci in a separate African population meta-analysis (N_cases= 46,834; N_controls= 149,192). We observed spatially resolved gene enrichment involving GABAergic and glutamate pathways, synaptic transmission, and cytoskeletal remodelling. OSA-derived polygenic risk scores showed predictive ability for clinician ascertained OSA status, Fitbit-derived sleep features, and self-reported sleep traits in participants of diverse ancestral backgrounds. We identi

SUBMITTER: Garcia-Marin LM 

PROVIDER: S-EPMC12642705 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature