Table 2.

Genes implicated in Crohn’s disease. Barrett JC, et al, Nat Genet 2008;40:955–6236; adapted with permission from Macmillan Publishers Ltd.

Gene AssociationGene FunctionLocationPhenotype
NOD2Peptidoglycan response16q12CD only
IL-23IL-23 receptor1p31CD, UC + other IMID
IL-12BInterleukin 12p405q33CD, UC
ATG16LAutophagy gene2p37CD only
PTPN2Tyrosine phosphatase18p11CD, UC + other IMID
NKX2-3Gut immune development10q24CD, UC
JAK2Transcription factor9p24CD
STAT3Transcription factor17q21CD
MHC regionMany6p21CD, 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.