Table 2.
Genes associated with PBC and other autoimmune diseases and their corresponding function.
| PBC Associated Genes | General Function | Diseases with Shared Risk Loci |
|---|---|---|
| IL12RB2 | T cell differentiation | Behcet’s |
| IL12A | T cell differentiation | Celiac |
| IRF5-TNPO3 | immune system activation | UC, RA, SLE, SSc |
| IKZF3, ORMDL3 | B cell proliferation and differentiation | UC, CD, RA, T1DM |
| SPIB | lymphoid specific enhancer, B cell signalling | n/a |
| DENND1B | clathrin mediated endocytosis | CD |
| STAT4, STAT1 | IL-12 signalling, T helper cell differentiation | Celiac, RA, SLE, SSc, Sjogren’s, Behcet’s, IBD |
| CD80 | T cell costimulatory signal | MS, celiac, vitiligo, SLE |
| PLCL2 | signal transduction | RA |
| NFKB1 | transcription regulation, involved in immune activation | UC |
| IL7R | lymphocyte development | MS, UC |
| ELMO1 | phagocytosis and cell migration | Celiac, RA |
| RPS6KA4 | regulator of inflammatory genes | IBD |
| CXCR5, DDX6 | B cell migration and/or differentiation | Celiac, vitiligo, RA, IBD |
| TNFRSF1A | regulatory of inflammation | MS |
| RAD51B | DNA repair | RA |
| TNFAIP2 | mediator of inflammation | n/a |
| CLEC16A, SOCS1 | negative regulation of cytokine signalling via JAK/STAT | MS, UC, T1DM |
| IRF8 | negative regulation of type I IFN stimulated genes | MS, IBD, RA, SSc |
| TAB1, SYNGR1 | mediates intracellular signaling | RA |
| TNFSF15 | mediates activation of NFKB and promotes apoptosis | UC, CD |
| POU2AF1 | essential for B cell response to antigens | n/a |
| TNFSF11 | T cell regulation and bone resorption | CD |
| SH2B3 | negative regulator of cytokine signalling | Celiac, RA, T1DM, Vitiligo, hypothyroidism |
| MAPT | maintenance of neuronal polarity | n/a |
| TYK2 | mediates intracellular signaling | IBD, RA, SLE, psoriasis, T1DM |
| MMEL1 | metalloproteinase involved in embryonic development | MS |