Fig. 2: Gene-based, tissue and cell type enrichment analyses.
From: Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
a, List of 25 genes that were implicated in at least two of the five different gene-based tests (significance indicated by gray dots) and passed the TWAS colocalization and/or SMR-HEIDI filters (significance indicated by orange dots). Conditionally independent (cond. ind.) genes within each locus are indicated by blue dots. b, Enrichment of OCD GWAS signal in human brain-related tissues from GTEx (version 8). No significant enrichment was observed in the peripheral tissues (not included in the figure). The horizontal bar size represents the significance of the enrichment measured using the MAGMA gene set enrichment test or partitioned LDSC. c, Top 20 groups of brain cell types (n = 35 total tested) enriched with OCD GWAS signal using MAGMA. Dots represent −log10(P values) from MAGMA gene set enrichment tests of individual neuronal cell types from Zeisel et al.30. Vertical crosses represent the mean −log10(P value) observed for each brain cell type group. Blue crosses represent a significant enrichment of OCD GWAS signals (FDR across 35 groups, FDR < 0.05), while pink crosses indicate nonsignificant enrichment. Gray points represent the association (−log10(P value)) for each single cell cluster (‘level 5’ analysis defined by Zeisel et al.30) in a given cell type (for example, excitatory neurons, cerebral cortex). CCK, cholecystokinin-expressing; R-LM, stratum radiatum-stratum lacunosum-moleculare.
