Fig. 2: Cis-diagnostic risk enrichment at epigenetically activated sites in adult and fetal brain tissue and immune cells for 8 specific disorders.

For each of 5 mental health disorders (schizophrenia, bipolar disorder, major depressive disorder [MDD], autism, and attention deficit-hyperactivity disorder [ADHD]), and for each of 3 positive control disorders (obesity, Alzheimer’s disease and rheumatoid arthritis), enrichment of cis-risk variants at active regulatory elements (active promoters and enhancers) was tested in a 10 brain tissue samples (3 fetal) and b 26 immune cell subsets and tissues (3 fetal)⁵⁴. P-values are shown for the results of stratified linkage disequilibrium score regression (s-LDSC) analysis (one-sided tests), taking the union of active elements in a given cell type as the annotation of interest. Tile size, from large to small, indicates P-value thresholds from FDR < 0.05 (significant after Benjamini-Hochberg correction for all 88 tissues tested, including those not shown here), through P < 0.05 (nominally significant), to P ≥ 0.05 (not significant). Tile fill indicates the P-value rank within each disorder across all cells/tissues to facilitate comparisons across results from differently-powered genetic association studies. See Supplementary Fig. 3 and Supplementary Data 1 for full statistics. HSC hematopoietic stem cell, PMA-I phorbol-myristate-acetate and ionomycin, ADHD attention deficit hyperactivity disorder, BMI body mass index.