FIGURE 5.
Cellular component enrichment and macrophage subtype-associated gene overlap in IEMs (A) Cellular component enrichment analysis of the 1,288 IEM-associated genes showing highest significant enrichment in the protein–lipid complex (B) Venn diagram showing the overlap between genes associated with macrophages, M2 macrophages, and the protein–lipid complex. A total of 35 genes correspond to M2 macrophage differentiation and 33 to M1 macrophage function. The larger number of genes involved in M2 macrophage reference signatures suggests that M2-associated transcriptional signatures were slightly more represented than M1-associated signatures within the enrichment dataset. Three genes (APOE, APOC1, and MSR1) are shared across macrophage subsets and the protein–lipid complex, indicating an overlap between macrophage-associated reference signatures and protein–lipid complex annotations (C) Cell-type enrichment validation using the Tabula Sapiens single-cell atlas. Of the 1,288 genes queried, only 12 genes were specifically associated with the vasculature–macrophage population. APOE appears as the only consistently overlapping gene across macrophage subsets and protein–lipid complex categories, supporting its potential relevance to IEM-related macrophage biology.
