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. Author manuscript; available in PMC: 2023 Apr 1.
Published in final edited form as: Nat Genet. 2022 Sep 29;54(10):1479–1492. doi: 10.1038/s41588-022-01187-9

Figure 5. Linking MS and AD disease-dependent and cellular process programs to MS and AD.

Figure 5.

a. UMAP embedding of scRNA-seq profiles (dots) from MS and healthy brain tissue, colored by cell type annotations (top) or disease status (bottom). b. Enrichments of MS disease-dependent programs for MS. Magnitude (E-score, dot size) and significance (−log10(P-value), dot color) of the heritability enrichment of MS disease-dependent programs (columns), based on the Roadmap∪ABC-immune enhancer-gene linking strategy. c. Proportion (mean and SE) of the corresponding cell types (columns) in healthy (blue) and MS (red) n=21 biologically independent brain samples. P-value: one-sided Fisher’s exact test. d. Enrichments of MS cellular process programs for MS. Magnitude (E-score, dot size) and significance (−log10(P-value), dot color) of the heritability enrichment of intra-cell type (left) or inter-cell type (right) cellular processes (healthy-specific (H), MS-specific (D) or shared (H+D)) (columns), based on the Roadmap∪ABC-immune enhancer-gene linking strategy. e. UMAP embedding of scRNA-seq profiles (dots) from AD and healthy brain tissue, colored by cell type annotations (top) or disease status (bottom). f. Enrichments of AD disease-dependent programs for AD. Magnitude (E-score, dot size) and significance (−log10(P-value), dot color) of the heritability enrichment of AD disease-dependent programs (columns), based on the Roadmap∪ABC-immune enhancer-gene linking strategy. g. Proportion (mean and SE) of the corresponding cell types (columns) in healthy (blue) and AD (red) n=48 biologically independent brain samples. P-value: one-sided Fisher’s exact test. h. Enrichments of AD cellular process programs for AD. Magnitude (E-score, dot size) and significance (−log10(P-value), dot color) of the heritability enrichment of inter-cell type cellular processes (AD-specific (D) or shared (H+D)) (columns), based on the Roadmap∪ABC-immune enhancer-gene linking strategy. In panels b,c,d,f,g,h, the size of each corresponding SNP annotation (% of SNPs) is reported in parentheses. Numerical results are reported in Supplementary Data 2,3. Further details of all traits analyzed are provided in Supplementary Table 2.