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Table 1 Notable genes within regions associated with Crohn's disease

From: The quest for genetic risk factors for Crohn's disease in the post-GWAS era

Gene

Odds ratio (95% CI)

Function

Innate immunity

  

   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

  

   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

  

   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

  1. Genes that we consider to be noteworthy in the Crohn's disease associated loci. Further investigation is necessary to identify the causal variants. CI, confidence interval; HLA, human leukocyte antigen; IFN, interferon; IL, interleukin; JAK, Janus kinase; NF, nuclear factor; rRNA, ribosomal RNA; sRNA, splicing RNA; STAT, signal transducer and activator of transcription; TGF, transforming growth factor; Th, T helper cell; TNF, tumor necrosis factor; Treg, regulatory T cell; tRNA transferRNA.