Fig. 3: P-LP variant burden in BD GWAS gene sets within BSC discovery and BipEx replication cohorts.
From: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
Forest plots of log odds ratios (Firth logistic regressions) for association between P-LP variant burden and BD across seven cohorts/ethnicities in the BSC study (top) and across six strata in the BipEx replication cohort (bottom). p values are one-sided for enrichment of P-PL variants in BD cases and derived from the meta-analysis Z-score. Meta-analysis shows that individuals with BD do not carry a replicable enrichment of P-LP variants in 165 BD GWAS-derived genes, in 153 BD genes identified using MAGMA, or in 81 genes that overlap between the BD GWAS and BD MAGMA gene sets. Horizontal black lines indicate 95% confidence intervals around the effect size. Unshaded boxes indicate absence of P-LP variants within a specific cohort. Gray boxes indicate meta-analysis within the BSC (discovery) and BipEx (replication) cohorts, respectively, and black box indicates meta-analysis across all BSC and BipEx cohorts. Numbers in parentheses indicate the number of BD cases and controls. BSC Bipolar Sequencing Consortium, BipEx Bipolar Exomes collection, REP replication cohorts, META meta-analysis.
