Table 1.
Immune gene variants linked to inflammatory diseases of the GI tract, respiratory tract, and skin
| Gene/locus | Encoded protein | Disease associations |
Immune Function/Pathway |
|---|---|---|---|
| IL23R | IL-23R (CD | CD, UC, psoriasis | ILC activation; Th17 differentiation |
| IL12B | IL-12p40 | CD, UC, psoriasis | Common subunit of IL-12/IL-23; Th1 & Th17 |
| IL23A | IL-12p19 | Psoriasis | Th17 differentiation |
| IL27 | IL-27 | CD | Development of IL-10-producing T cells; Th1 |
| IL10 | IL-10 | CD, UC | Anti-inflammatory immune modulator |
| IL10RA | IL-10R1 (CD210a) | CD | IL-10-specific receptor component |
| IL10RB | IL-10R2 (CD210b) | CD | Shared receptor for IL-10, IL-22 and IL-26 |
| IL2/IL21 | IL-2/IL-21 (?) | UC | T cell development; Treg vs Th17 balance |
| TSLP | TSLP | asthma | Innate cell derived inducer of Th2 |
| IL2RA | IL-2Rα (CD25) | CD | High affinity IL-2R component; Tregs |
| IL2RB | IL-2Rβ (CD122) | asthma | Shared subunit of IL-2 and IL-15 receptors |
| IFNG/IL26 | IFNγ/IL-26 (?) | UC | IFNγ or IL-26 expression |
| TNFSF11 | RANKL | CD | DC survival/function |
| TNFSF15 | TL1A | CD, UC | Augments IFNγ and IL-17 production |
| ICOSLG | ICOS ligand | CD, UC | Costimulatory molecule; T cell development |
| IL1R1 | IL-1Rα (CD121a) | asthma | Receptor component for IL-1α/β signaling; Th17 |
| IL1R2 | IL-1R2 (CD121b) | CD, UC | Decoy receptor for IL-1α/β |
| IL18R1 | IL-18R (CD218a) | asthma | Receptor component for IL-18 signaling; Th1 |
| IL18RAP | IL-18Rap (CD218b) | CD | Co-receptor for IL-18 signaling; Th1 |
| Il1RL1 | ST2/IL-33R | Asthma, AD | Receptor for IL-33; Th2 |
| IL33 | IL-33 | UC, asthma, AD | Innate cell derived inducer of Th2 |
| CCR6 | CCR6R (CD196) | CD | Chemokine receptor for CCL20; Th17 |
| CCL2/CCL7 | MCP-1/MCP-3 | CD | Chemokine ligands for CCR2; monocytes |
| IL8RA/IL8RB | CXCR2 (CD182) | UC | Chemokine receptor for CCL8/IL-8; neutrophils |
| STAT3 | STAT3 | CD, UC | Signal transduction/transcription factor; Th17 |
| JAK2 | JAK2 | CD, UC | STAT signaling kinase; multiple pathways |
| TYK2 | TYK2 | CD, UC | STAT signaling kinase; multiple pathways |
| SMAD3 | SMAD3 | CD, UC, asthma | TGFβ receptor signaling; multiple pathways |
| PTPN2 | T-cell PTP | CD, UC | T cell signaling |
| PTPN22 | Lymphoid-specific PTP | CD, UC, psoriasis | T cell signaling |
| REL | C-Rel | CD, UC | NF-κB component; inflammatory signaling |
| PRDM1 | BLIMP1 | CD, UC | Antagonizes Bcl-6; promotes T effector develop. |
| ERAP1 | ER aminopeptidase 1 | Psoriasis | MHC class I antigen processing |
| ERAP2 | ER aminopeptidase 1 | CD | MHC class I antigen processing |
| CARD9 | CARD9 | CD, UC | Adaptor protein for NF-κB signaling |
| NOD2 | NOD2/CARD15 | CD | Bacterial sensing; autophagy |
| IRGM | IRGM | CD | Autophagy |
| ATG16L1 | ATG16L | CD | Autophagy |
| ORMDL3 | ORMDL3 | CD, UC, asthma | Linked to increased IL-17; mech. ? |
| MUC1 | Mucin 1 | CD | Epithelial mucin/barrier function |
| ECM1 | ECM1 | UC | Extracellular matrix; epithelial barrier integrity |
| CDH1 | E-cadherin (CD324) | UC | Epithelial barrier integrity, intestines |
| LCE3B/3C/3D | Late cornified env.3B/C/D | Psoriasis | Epidermal differentiation, skin |
| FLG | Fillagrin | AD | Epithelial barrier integrity-skinn |
Abbreviations: CD, Crohn’s disease; UC, ulcerative colitis; AD, Atopic dermatitis