Understanding which biological functions are dysregulated in different cell types is a key component of the etiology of complex traits. To obtain insights into the biological functions driving cell-type/trait associations, we evaluated GO term enrichment of genes that were specifically expressed (top 20% in a given cell type) and highly associated with a trait (top 10% MAGMA gene-level genetic association). Genes that were highly associated with schizophrenia and specific to telencephalon projecting excitatory neurons were enriched for GO terms related to neurogenesis, synapses, and voltage-gated channels (Table S5), suggesting that these functions may be fundamental to schizophrenia. Similarly, genes highly associated with educational attainment, intelligence, bipolar disorder, neuroticism, BMI, anorexia and MDD and highly specific to their most associated cell types were enriched in terms related to neurogenesis, synaptic processes and voltage-gated channels (Table S5). In contrast, genes highly associated with stroke and specific to vascular cells were enriched in terms related to vasculature development, while genes highly associated with ALS and peripheral sensory neurofilament neurons were enriched in terms related to lysosomes.
