Fig. 2: P-LP variant burden in candidate BD- and SCZ-related gene sets.
From: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
Meta-analysis of Firth logistic regression of P-LP variants shows that BD cases in BSC cohorts appear to carry a higher burden of P-LP alleles in three BD GWAS-derived gene sets. Horizontal bars represent 95% confidence intervals. No enrichment of P-LP variants was observed in three schizophrenia GWAS-derived gene sets, in two neuron synaptic-related genesets (RBFOX2- and FMRP-related genes), in genes classified as LOF-intolerant, or in all genes across the exome. P values are one-sided for enrichment of P-PL variants in BD cases and derived from the meta-analysis Z-score. Numbers in parentheses represent the number of genes with P-LP variants and total number of genes within each gene set, respectively. BD bipolar disorder, OR odds ratio, P-LP pathogenic or likely pathogenic, GWAS genome-wide association study, LOF loss-of-function.
