Fig. 3

Gene Expression-Informed Pathway Analysis. Shown is a summary of pathway analysis results for genes with variants demonstrating association with respiratory outcomes. Separate analyses were performed for gene sets identified from analysis of common variants (Common), unique variants only identified in affected subjects (Unique BPD), unique variants only identified in the unaffected subjects (Unique No BPD), and combined common and rare variants (Common + Rare). Standard pathway analyses were supplemented with gene expression data from lung tissue from subjects with BPD and appropriate controls. Top canonical pathways identified (rows) are listed for each analysis (columns), with significance (− logP) and directionality (activated/inhibited). Interestingly, some biological functions were commonly identified including PKA (activated in affected subjects, inhibited in unaffected subjects), corticotropin releasing hormone (inhibited in affected), UVA-induced MAPK (inhibited in affected) and sperm motility (inhibited in affected)