Table 2. Results from pathway analysis in iGSEA4GWAS.
| Gene set | Source | FDR (with HLA) | FDR (without HLA) |
|---|---|---|---|
| NO2-dependent IL-12 pathway in NK cells | Biocarta | 6.7 × 10−4 | |
| JAK-STAT signalling pathway*,† | KEGG | 0.001 | 0.013 |
| IL-12 mediated signalling events | PID | 0.001 | |
| IL-12- and Stat4-dependent signalling in Th1 development*,† | Biocarta | <0.001 | |
| Interferon signalling | REACTOME | 0.001 | |
| PD-1 signalling | REACTOME | 0.001 | |
| Phosphorylation of CD3 and TCR-ζ chains | REACTOME | 0.001 | |
| IL-27-mediated signalling events*,† | PID | 0.001 | <0.001 |
| Cytokine–cytokine receptor interaction‡,§,||,¶,#,**,†,††,‡‡ | KEGG | 0.002 | 0.010 |
| IFN-γ signalling | REACTOME | 0.002 | |
| MHC class II antigen presentation | REACTOME | 0.003 | |
| Cytokine signalling in immune system | REACTOME | 0.004 | |
| Antigen processing and presentation | KEGG | 0.004 | |
| Intestinal immune network for IgA production | KEGG | 0.004 | |
| Co-stimulation by the CD28 family | REACTOME | 0.005 | |
| IL-2 mediated signalling events | PID | 0.008 | |
| TCR signalling | REACTOME | 0.008 | |
| Downstream TCR signalling | REACTOME | 0.008 | |
| Cell adhesion molecules | KEGG | 0.015 | |
| Th1, Th2 differentiation† | Biocarta | 0.019 | 0.012 |
| IL-2 receptor beta chain in T-cell activation | Biocarta | 0.021 | |
| Interferon α/β signalling | REACTOME | 0.035 | |
| IL-23-mediated signalling events | PID | 0.039 |
FDR, false discovery rate; IFN, interferon; IL, interleukin; PD, programmed cell death; TCR, T cell antigen receptor; NK, natural killer.
Gene sets with FDR <0.05 are listed. Results are shown with or without inclusion in the analysis of SNPs within the HLA region. The top 10 hits from our drug-positioning analysis using a combined pathway from the HLA excluded set are indicated by symbols for the associated pathways that they affect.
*Tofacitinib.
†Glatiramer acetate.
‡Axitinib.
§Pazopanib.
||Vatalanib.
¶Cediranib.
#X-82.
**Telatinib.
††Linifanib.
‡‡Tandutinib.