Table 1.
Major gene loci associated with susceptibility of PBC, and other autoimmune diseases*
| Chromosome No. | Gene loci | PBC (Europe/North America) | PBC (Japan/China) | RA | IBD | MS | SLE |
|---|---|---|---|---|---|---|---|
| 1 | CD58 | Yes | ✓ | ✓ | |||
| 1 | MMEL1, TNFRSF14 | Yes | ✓ | ✓ | ✓ | ||
| 1 | IL12RB2 | Yes | |||||
| 1 | DENND1B | Yes | ✓ | ||||
| 2 | IL1RL2/IL1RL1 | Yes | ✓ | ||||
| 2 | STAT4 | Yes | Yes | ✓ | ✓ | ||
| 2 | CD28/CTLA4/ICOS | Yes | ✓ | ✓ | |||
| 2 | CCL20 (LARC) | Yes | ✓ | ||||
| 2 | BCL2L11 | ||||||
| 2 | GPR35 | ✓ | |||||
| 3 | PLCL2 | Yes | ✓ | ||||
| 3 | CD80 | Yes | Yes | ✓ | |||
| 3 | IL12A, SCHIP1 | Yes | Yes | ✓ | |||
| 3 | FOXP1 | ||||||
| 3 | MST1 | ✓ | |||||
| 4 | DGK Q | Yes | ✓ | ✓ | |||
| 4 | NF-kB1 | Yes | Yes | ✓ | |||
| 4 | IL21 | Yes | ✓ | ||||
| 5 | IL7R | Yes | Yes | ✓ | ✓ | ||
| 5 | PAM/C5orf30 | Yes | ✓ | ||||
| 5 | LOC285626/IL12B | Yes | ✓ | ✓ | |||
| 6 | TNFAIP3 | Yes | ✓ | ✓ | ✓ | ✓ | |
| 6 | BACH2 | ✓ | |||||
| 7 | ELMO1 | Yes | ✓ | ✓ | ✓ | ||
| 7 | IRF5 | Yes | ✓ | ✓ | ✓ | ||
| 9 | TNFSF15 | Yes | ✓ | ||||
| 10 | IL2RA | ✓ | ✓ | ✓ | |||
| 11 | RPS6KA4 | Yes | ✓ | ✓ | |||
| 11 | CXCR5 | Yes | Yes | ✓ | ✓ | ||
| 11 | POU2AF1 | Yes | |||||
| 11 | CCDC88B | Yes | ✓ | ||||
| 11 | SIK2 | ||||||
| 12 | TNFRSF1A | Yes | Yes | ✓ | |||
| 12 | SH2B3 | Yes | ✓ | ||||
| 12 | HDAC7 | ✓ | |||||
| 12 | RFX4, RIC8B | ||||||
| 13 | TNFSF11 (RANKL) | Yes | ✓ | ||||
| 14 | RAD51L1 | Yes | |||||
| 14 | TNFAIP2 | Yes | |||||
| 15 | IL16 | Yes | |||||
| 16 | IL21R | Yes | |||||
| 16 | PRKCB | Yes | ✓ | ||||
| 16 | CLEC16A, SOCS1 | Yes | ✓ | ✓ | ✓ | ||
| 16 | CSNK2A2, CCDC113 | Yes | |||||
| 16 | IRF8 | Yes | ✓ | ✓ | ✓ | ||
| 17 | IKZF3-ORMDL3 | Yes | Yes | ✓ | ✓ | ||
| 17 | MAPT, CRHR1 | Yes | |||||
| 18 | TYK2 | Yes | ✓ | ✓ | ✓ | ||
| 18 | ARID3A | Yes | |||||
| 18 | SPIB | Yes | |||||
| 18 | TCF4 | ||||||
| 18 | CD226 | ✓ | ✓ | ||||
| 19 | PRKD2, STRN4 | ||||||
| 21 | PSMG1 | ✓ | |||||
| 21 | UBASH3A | ✓ | |||||
| 22 | MAP3K7IP1/RPl3, SYNGR1 | Yes | Yes | ✓ |
PBC, primary biliary cholangitis; RA, rheumatoid arthritis; IBD, inflammatory bowel disease; MS, multiple sclerosis; SLE, systemic lupus erythematosus; IL, interleukin; RANKL, receptor activator of nuclear factor-kappaB ligand.