#GenomicDiscoveries
New insights into bipolar disorder: 298 significant genomic loci identified across 158,036 cases and 2.8M controls. #GenomicDiscoveries PMID:39843750, Nature 2025, @Nature https://doi.org/10.1038/s41586-024-08468-9 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
Genomics yields biological and phenotypic insights into bipolar disorder | Nature
Bipolar disorder is a leading contributor to the global burden of disease1. Despite high heritability (60–80%), the majority of the underlying genetic determinants remain unknown2. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.8 million controls), combining clinical, community and self-reported samples. We identified 298 genome-wide significant loci in the multi-ancestry meta-analysis, a fourfold increase over previous findings3, and identified an ancestry-specific association in the East Asian cohort. Integrating results from fine-mapping and other variant-to-gene mapping approaches identified 36 credible genes in the aetiology of bipolar disorder. Genes prioritized through fine-mapping were enriched for ultra-rare damaging missense and protein-truncating variations in cases with bipolar disorder4, highlighting convergence of common and rare variant signals. We report differences in the ge
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March 27, 2025 at 1:40 PM