Table 1.
Genetic loci with identified or candidate genes associated with the risk of developing Crohn’s Disease
| Locus | Gene/Candidate | Function |
|---|---|---|
| Loci with confirmed or with highly probable contribution to CD risk | ||
| 16q12 | NOD2/CARD15 | MDP sensor (recognition of bacteria) |
| 2q37 | ATG16L1 | Autophagy |
| 5q33 | IRGM | Initiates autophagy of intracellular bacteria |
| 22q12 | XBP1 | ER stress response |
| 18p11 | PTPN2 | Cell signaling (tyrosine kinase), growth factor stimulation |
| 12q12 | MUC19, LRRK2 | Mucus protein, Unknown (Parkinson’s disease, autophagy) |
| 5p13 | PTGER4 (EP4) | Prostaglandin receptor |
| 9q32 | TNFSF15 | Induces endothelial cell apoptosis |
| 10q21 | ZNF365 | Unknown (zinc-finger protein) |
| 1p13 | PTPN22 | Cell signaling (tyrosine kinase) associates with CBL |
| 1q23 | ITLN1 | Galactose-binding lectin (recognition of bacteria) |
| 6p22 | CDKAL1 | Unknown (regulation of a cyclin-dependent kinase) |
| 6q27 | CCR6 | Chemokine receptor |
| 9p24 | JAK2 | Cell signaling (tyrosine kinase), cytokine stimulation |
| 11q13 | C11orf30 | Unknown (oncogene) |
| 17q21 | ORMDL3 | Unknown (also associated with asthma risk) |
| 17q21 | STAT3 | Cell signaling, cytokine stimulation |
| 21q22 | ICOSLG | ICOS ligand (costimulation) |
| Loci with confirmed or with highly probable contribution to CD and UC risk | ||
| 1p31 | IL23R | IL23 receptor |
| 5q33 | IL12B (IL12p40) | Component of IL12 and IL23 |
| 6p21 | MHC genes | Epitope selection |
| 10q24 | Nkx2-3 | Regulates epithelial cell and lymphocyte development |
| 3p21 | MST1 | Cytokine, macrophage stimulatory protein |
| Loci with likely contribution to CD risk | ||
| 2p23 | GCKR | Cell signaling (e.g. Wnt signaling) |
| 2p16 | PUS10 | Unknown (tRNA pseudouridine synthesis) |
| 17q12 | CCL2, CCL7 | C-C chemokines, macrophage recruitment |
| 6p25 | LYRM4 | Unknown (protein folding) |
| 6p25 | SLC22A23 | Organic ion transporter |
| 2q11 | IL18RAP | IL18 receptor component |