Fig. 6

Enrichment analysis showing overlap between attenuated transcriptomic regional identity (ARI) genes detected in post-mortem cortical tissue and non-zero modules detected in imaging-gene expression PLS analyses. Panel A depicts a schematic of how these enrichment analyses were conducted. A gene set known as attenuated transcriptomic regional identity (ARI) genes were extracted from a prior study on post-mortem cortical tissue in autistic patients [42]. These ARI genes are genes that have substantial between-region gene expression differences in non-autistic brains, but much more attenuated regional identity differences in gene expression in autism. ARI genes are depicted in blue in the Venn diagram. In green, the Venn diagram shows our set of genes isolated from PLS imaging-gene expression association analyses (i.e. genes from non-zero modules). The degree of overlap is then tested with enrichment odds ratios and hypergeometric p values from gene set enrichment analyses. Panel B shows a heatmap of the enrichment odds ratios (numbers in the center of each cell) and where color in each cell indicates the -log10(p-value) for each hypergeometric test. Cells with a thick black outline indicate enrichment tests that pass at FDR q < 0.05, while cells with smaller thin black outline pass at FDR q < 0.1. The columns in the heatmap represent comparisons when the gene list derives from the ELO (left) or A3D (right) model. Each row of the heatmap indicates a different gene list extracted from PLS analyses, with the top row indicating genes from non-zero modules in PLS analyses that examine fMRI responses to speech. The remaining rows depict comparisons where the PLS gene lists come from associations with surface area (SA) or cortical thickness (CT) and we have annotated which rows can be interpreted as effects indicative of ‘normative patterning’ effects (effects driven by TD correlations and which are shared in Good ELO or Type II A3D subtypes) versus atypical patterning effects (e.g., effects driven specifically by the ELO Poor or Type I A3D subtypes)