Table 1.
Some of the known gene mutations associated with IBD
| Biological function | Known genetic predisposition to: | ||
|---|---|---|---|
| CD | UC | Common to CD/UC | |
| Maintain epithelial integrity | MUC19, ITLN1 | GNA12, HNF4A, CDH1, ERRFI1 | |
| Paneth cells | NOD2, LTLN1, ATG16L1 | XBP1 | |
| Innate mucosal defense | NOD2, ITLN1 | SLC11A1, FCGR2A/B | CARD9, REL |
| IL-23/Th17 | STAT3 | IL-21 | IL-23R, JAK2, TYK2, ICOSLG, TNFSF15 |
| Restitution | STAT3 | ERRFI1, HNF4A, PLA2G2A/E | REL, PTGER4, NKX2-3 |
| Immune tolerance | IL-27, SBNO2, NOD2 | IL1R1/IL1R2 | IL-10, CREM |
| T-cell regulation | NDFIP1, TAGAP, IL-2R | IL-2, TNFRSF9, PIM3, IL-7R, TNFSF8, IFNG | TNFSF8, IL-12B, IL-23, PRDM1, ICOSLG |
| B-cell regulation | IL-5, IKZF1, BACH2 | IL-7R, IRF5 | |
| Solute transport | SLC9A4, SLC22A5, SLC22A4 | AQP12A/B, SLC9A3, SLC26A3 | |
| Immune cell recruitment | IL8RA/IL8RB | CCL11, CCL2, CCL7, CCL8, CCR6 | MST1 |
| Antigen presentation | ERAP2, LNPEP, DENND1B | ||
| Autophagy | NOD2, ATG16L1, IRGM | PARK7, DAP | CUL2 |
| Oxidative/ER stress | CAPEB4, PRDX5, BACH2, ADO, GPX1/3, SLC22A4, LRRK2, NOD2 | SERINC3, HSPA6, DLD, PARK7 | ORMDL3, XBP1, CARD9, UTS2, PEX13 |
| Intracellular logistics | VAMP3, FGFR1OP, FASLG, THADA | TTLL8, CAP72, TPPP, ARPC2, LPS1, AAMP, DAP | KIF21B, PUS10, MST1 |
| Metabolism | GCKR | SLC2A4RG | |