From: The quest for genetic risk factors for Crohn's disease in the post-GWAS era
Gene | Odds ratio (95% CI) | Function |
---|---|---|
Innate immunity | Â | Â |
   NOD2 (nucleotide binding oligomerization domain 2) | 2.2-4.0 [58] | Involved in pattern recognition |
   ATG16L1 (ATG16 autophagy related 16-like 1) | 1.34 (1.29-1.40) [5] | Involved in autophagy |
   IRGM (immunity-related GTPase family, M) | 1.37 (1.28-1.47) [5] | Involved in autophagy |
   TLR4 (Toll-like receptor 4) | 1.29 (1.08-1.54) [59] | Involved in pattern recognition |
   CARD9 (caspase recruitment domain family, member 9) | 1.18 (1.13-1.22) [5] | Involved in pattern recognition |
   VAMP3 (vesicle-associated membrane protein 3) | 1.05 (1.01-1.10) [5] | Involved in autophagy and TNF-α metabolism |
   REL (reticuloendotheliosis viral oncogene homolog) | 1.14 (1.09-1.19) [5] | Transcriptional activator of NF-кB |
   ERAP2 (endoplasmic reticulum aminopeptidase 2) | 1.05 (1.02-1.09) [5] | Involved in peptide trimming upon NF-кB stimulation; required for the generation of HLA binding peptides |
   UBE2L3 (ubiquitin-conjugating enzyme E2L 3) | 0.70 [15] | Ubiquitinates, among others, the NF-кB precursor |
Adaptive immunity | Â | Â |
   IL23R (IL-23 receptor) | 2.66 (2.36-3.00) [5] | Activates Th17 cells |
   IL12B (IL-12β) | 1.18 (1.13-1.24) [5] | Stimulates Th0 differentiation to Th1 cells |
   CCR6 (chemokine (C-C motif) receptor 6) | 1.17 (1.12-1.22) [5] | Chemoattractant receptor of immune cells |
   HLA-DQA2 (major histocompatibility complex, class II, DQα2) | 1.19 (1.13-1.25) [5] | Antigen presenting to Th0 |
   TNFSF11 (tumor necrosis factor super family 11) | 1.10 (1.05-1.15) [5] | Augments the ability of dendritic cells to stimulate naive T-cell proliferation |
   TNFSF15 (tumor necrosis factor super family 15) | 1.21 (1.15-1.27) [5] | Mediates activation of NF-кB |
   ICOSLG (inducible T-cell co-stimulator ligand) | 1.18 (1.13-1.23) [5] | Acts as a co-stimulatory signal for T-cell proliferation and cytokine secretion |
   IL2RA (IL receptor α) | 1.11 (1.05-1.16) [5] | Th0 activation |
   TAGAP (T-cell activation GTPase-activating protein) | 1.10 (1.05-1.14) [5] | May function as a GTPase activating protein and may play important roles during T-cell activation |
   IL10 (IL-10) | 1.12 (1.07-1.17) [5] | Inhibits synthesis of pro-inflammatory cytokines |
   IL18RAP (IL-18 receptor accessory protein) | 1.19 (1.14-1.26) [5] | Protein required for NF-кB activation |
   TYK2 (tyrosine kinase 2) | 1.12 (1.06-1.19) [5] | Probably involved in intracellular signal transduction by initiation of IFN signaling |
   JAK2 (Janus kinase 2) | 1.18 (1.13-1.23) [5] | Involved in JAK/STAT pathway; mediates signal transduction of many cytokines |
   STAT3 (signal transducer and activator of transcription 3) | 1.15 (1.10-1.21) [5] | Involved in JAK/STAT pathway; mediates signal transduction of many cytokines |
   SMAD3 (SMAD family member 3) | 1.12 (1.07-1.16) [5] | Involved in Treg activation through TGF-β signal transduction |
   ICAM1,3 (intercellular adhesion molecule) | 1.12 (1.06-1.19) [5] | Homing of leukocytes to inflammation |
Other genes of interest | Â | Â |
   MUC1,19 (mucin) | 1.74 (1.55-1.95) [5] | Involved in mucus production, to protect the epithelial barrier |
   FUT2 (fucosyltransferase 2) | 1.07 (1.04-1.11) [5] | Involved in the A and B antigen synthesis pathway |
   PUS10 (pseudouridylate synthase 10) | 1.16 [19] | Post-transcriptional nucleotide modification of structural RNAs, including tRNA, rRNA and sRNAs |