Figure 5.

cis-eQTL–based pathway analysis and transcriptional risk scores [TRSs] underline transition to increasing disease risk from CD1 to CD3. [A] Comparison pathway analysis using eGenes from cis-eQTLs unique to either CD1 or CD3 [p < 1e-08 for eQTL and p < 0.05 for Fisher’s exact test–based pathway analysis] revealed that the CD3 subgroup is enriched in Wnt/beta-catenin signalling and regulation of EMT. This possibly indicates that the underlying pathobiology for recurring and complicated disease in CD3 could be changes in epithelial architecture. [B] Association of TRSs with the three subgroups (p < 0.0001, Kruskal–Wallis [K–W] test). The CD3 subgroup was associated with higher TRSs compared with the CD1 subgroup, confirming CD3 as a more complicated and severely affected subset [p = 0.0002, Mann–Whitney [M–W] test].