Table 2.

Significant pathways enriched from the pleiotropic associations between sarcoidosis, asthma, celiac disease, primarily biliary cirrhosis, and rheumatoid arthritis. The statistical significance of 225,116 variants overlapping between these five risk bases was measured using GPA,²⁵ and 238 significant variants (FDR < 0.05) were mapped to 83 unique genes using WebGestalt.²⁶ Enriched pathway-based sets were determined using ConsensusPathDB²⁷ for these 83 genes, leading to the seven statistically significant (FDR < 0.05) pathways shown in the table. Each pathway has a corrected (FDR) and uncorrected (P-value) measure of significance of the overrepresentation of genes in the pathway from the 83 mapped genes. The MHC region was not included in the 225,116 overlapping variants as these were excluded from the celiac disease summary statistics.

Enriched pathway-based set	Source	P-value	FDR
IL-12 signaling	INOH	0.00033	0.0134
Nef and signal transduction	Reactome	0.00044	0.0134
No2-dependent IL-12 pathway in NK cells	BioCarta	0.00056	0.0134
IL-12 and STAT4 dependent signaling pathway in Th1 Development	BioCarta	0.0016	0.0289
Cell adhesion molecules	KEGG	0.00247	0.0334
T-Cell Receptor (TCR)	NetPath	0.00278	0.0334
IL-27-mediated signaling events	PID	0.00483	0.0497