Extended Data Fig. 7: Pathway, cell type and tissue enrichment analyses.
a,b, MAGMA pathway enrichment analysis based on GWAS summary statistics with (a) and without (b) the HLA region. −log10 of two-sided P-values for the enrichment test (not corrected for multiple testing) are depicted along the x-axis. Significant pathways are listed along the y-axis. Red vertical lines indicate significance threshold after accounting for multiple testing. c, Cell type-specific heritability enrichment for functional annotations in ImmGen dataset of mouse regulatory elements and expression data demonstrating the strongest enrichment in small intestine-derived macrophages profiled three days after Salmonella infection. d, Cell type-specific heritability enrichment for individual functional annotations generated by Roadmap Epigenomics demonstrates significant enrichment in immune cells, especially of B-cell lineage. All enrichments at nominal two-sided uncorrected P < 0.05 are displayed and grouped according to cell and tissue class. A solid red line represents a stringent Bonferroni-corrected −log10 of the two-sided P-value threshold of significance for the Roadmap dataset (P = 1.3 × 10−4). A dotted black line represents the −log10 of the nominal P-value of 0.05. GO, Gene Ontology; KEGG, Kyoto Encyclopedia of Genes and Genomes; MF, macrophages; P/I, post-injection.
