Genetic architecture of sleep in a genome wide association study of device measured sleep traits - PubMed
3 hours ago
- #Sleep genetics
- #Genome-wide association study
- #Cardiometabolic risk
- The study conducted genome-wide association studies (GWAS) on device-measured sleep traits including duration, efficiency, REM, and NREM sleep in 80,013 UK Biobank participants.
- Identified 20 autosomal loci, with 12 being newly reported, including genome-wide significant associations for REM and NREM sleep duration.
- MEIS1 gene shows opposing effects on REM and NREM sleep durations and is intolerant to loss-of-function mutations, indicating a crucial role in regulating REM/NREM balance.
- Functional enrichment analysis reveals significant pathways related to chromatin remodeling, lipid metabolism, and metal ion homeostasis.
- Tissue enrichment analysis highlights significant signals in the hypothalamus and frontal cortex.
- Sex-stratified analyses found distinct loci: FOXP2 and NRXN3 in females, and LRP1B, NPBWR2, and PABPC4 in males.
- Mendelian randomization supports associations between shorter sleep duration and higher cardiometabolic risk.
- The findings provide insights into sex- and phase-specific regulators of human sleep architecture, offering biological understanding and potential therapeutic targets.