Fig. 4

DNAm patterns and brain trait heritability. a Results assessing enrichment for heritability of 30 phenotypes within 16 groups of DNAm features using stratified linkage disequilibrium score regression (LDSC). Each dot represents the results for a single phenotype: DNAm feature pair. The color indicates the DNAm feature, and the phenotypes are stratified by column into psychiatric phenotypes, other brain-related phenotypes (i.e., neurological or behavioral-cognitive), or non-brain-related traits. The upper row shows the coefficient z-score for each tested phenotype: DNAm pair, or the amount of additional heritability explained by the DNAm feature over 53 baseline features in the model. The lower row shows the enrichment score or the proportion of heritability attributed to the feature divided by the proportion of SNPs in the feature. For clarity, enrichment scores of only the significant feature-trait combination are depicted. Filled in circles indicate significantly enriched heritability for a phenotype in a feature (coefficient p value corrected using Holms method ≤ 0.05). b A cdDMR overlapping HDAC4, a gene associated with autism spectrum disorder (ASD), shows the group 3 pattern of decreasing neuronal and static glial DNAm. c A cdDMR overlapping CACNA1B, a gene associated with ASD, shows the group 5 pattern of decreasing neuronal and increasing glial DNAm. d A cdDMR overlapping AKT3, a gene associated with schizophrenia, shows the group 6 pattern of decreasing glial and static neuronal DNAm. Gray shading indicates the boundaries of the cdDMR, and black tick marks on the x-axis indicate the position of CpGs