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; Ncases= 230,657; Ncontrols= 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 (Ncases= 46,834; Ncontrols= 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 identified putative causal relationships with ADHD, depression, multisite chronic pain, body mass index, and schizophrenia, among others. Our findings demonstrate a robust genetic component underlying OSA risk, independent of body mass index, implicating distinct neurobiological pathways related to synaptic function and corticothalamic feedback loops.
Read the paper
Related studies
- Global, regional, and national burden of hepatitis B, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019
- A meta‐analysis of anal cancer incidence by risk group: Toward a unified anal cancer risk scale
- Global fertility in 204 countries and territories, 1950–2021, with forecasts to 2100: a comprehensive demographic analysis for the Global Burden of Disease Study 2021
- Exercise interventions in Alzheimer's disease: A systematic review and meta-analysis of randomized controlled trials
- Prognostic Significance of Carbonic Anhydrase IX Expression in Cancer Patients: A Meta-Analysis
- Glucocorticoid Resistance: Is It a Requisite for Increased Cytokine Production in Depression? A Systematic Review and Meta-Analysis
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.