Fig. 4. Tissue and cell type enrichment analysis.
a, Enrichment of tissues and brain regions included in GTEx version 8 illustrates a brain-specific enrichment pattern in ALS, similar to that in PD but contrasting with that in AD. Tissues and brain regions displayed are those significantly enriched in ALS or PD, tissues previously reported in AD and tissues of specific interest for ALS (spinal cord, tibial nerve and muscle). Color represents the enrichment coefficient, and size indicates two-sided −log10 (P-values) of enrichment obtained by the linear regression model in the MAGMA gene property analysis. b, Cell type enrichment analyses indicate neuron-specific enrichment for glutamatergic neurons. In ALS, no enrichment was found for microglia or other non-neuronal cell types, contrasting with the pattern observed in AD. Color represents the enrichment coefficient, and size indicates two-sided −log10 (P-values) of enrichment obtained by the linear regression model in the MAGMA gene property analysis. Statistically significant enrichments after correction for multiple testing over all tissues (n = 54), cell types (n = 7) and neurons (n = 3) with FDR < 0.05 are marked with an asterisk. Cx, cortex; GABA, γ-aminobutyric acid; OPCs, oligodendrocyte progenitor cells.