Genes implicated in Crohn’s disease. Barrett JC, et al, Nat Genet 2008;40:955–6236; adapted with permission from Macmillan Publishers Ltd.
| Gene Association | Gene Function | Location | Phenotype |
|---|---|---|---|
| NOD2 | Peptidoglycan response | 16q12 | CD only |
| IL-23 | IL-23 receptor | 1p31 | CD, UC + other IMID |
| IL-12B | Interleukin 12p40 | 5q33 | CD, UC |
| ATG16L | Autophagy gene | 2p37 | CD only |
| PTPN2 | Tyrosine phosphatase | 18p11 | CD, UC + other IMID |
| NKX2-3 | Gut immune development | 10q24 | CD, UC |
| JAK2 | Transcription factor | 9p24 | CD |
| STAT3 | Transcription factor | 17q21 | CD |
| MHC region | Many | 6p21 | CD, UC + other IMID |
NOD2: nucleotide-binding oligomerization domain protein 2; IL-23: interleukin 23; IL-12B: interleukin 12B; PTPN2: protein tyrosine phosphatase; non-receptor type 2; JAK2: Janus kinase 2; STAT 3: signal transducer and activator of transcription 3; MHC: major histocompatibility complex. UC: ulcerative colitis; IMID: immune-mediated inflammatory disease.