Table 1.
Polymorphisms associated with responsiveness among patients with Crohn’s disease, ulcerative colitis, or inflammatory bowel disease treated with IFX.
| rs | Genotype | Disease | Rf or NRf: n [p (OR/HR; 95% CI)] | Long/Short Term | Response Criteria | Gene | Pathway | Reference |
|---|---|---|---|---|---|---|---|---|
| rs6100556 | TT | CD and UC | NR: 340 [0.004 (aHR: 2.67; 1.37–5.23)] | Long | Inmunogenic, pharmacokinetic, and pharmacodynamic criteria | PHACTR3 | Cell proliferation | [40] |
| rs2241880 | AA | CD and UC | NR: 340 [0.006 (aHR: 0.37; 0.19–0.76)] | Long | Inmunogenic, pharmacokinetic, and pharmacodynamic criteria | ATG16L1 | Autophagy | [40] |
| rs1813443 | CC | CD | NR: 126 [0.002 (11.50; 2.50–52.84)] | Short | Luminal disease: HBI. Perianal disease: closure of fistulas or reduction of draining fistulas | CNTN5 | Nervous system development; immunoglobulin superfamily | [39] |
| rs1816702 | CC | CD | R: 132 [0.0049 (HR: 0.13; 0.02–0.99)] | Long | Clinical, biochemical, and endoscopic data or the need for abdominal surgery | TLR2 | Pathogen recognition | [35] |
| rs1568885 | TT | CD | NR: 126 [0.007 (21.37; 2.73–167.20)] | Short | Luminal disease: HBI. Perianal disease: closure of fistulas or reduction of draining fistulas | CNTN5 | Nervous system development; immunoglobulin superfamily | [39] |
| rs1061624 | AA or GA | CD | NR: 297 [0.015 (OR: 1.78; 1.09–2.90)] | Short | Luminal disease: HBI. Perianal disease: closure of fistulas or reduction of draining fistulas | TNFRSF1B | TNF-α pathway; inflammation | [41] |
| rs976881 | AA and GA | CD | NR: 125 [ 0.014 (OR 3.30; 1.20–9.10)] | Short | No clinical response to IFX induction infusions | TNFRSF1B | TNF-α pathway; inflammation | [38] |
| rs3804099 | TT | CD | R: 132 [0.023 (HR: 0.04; 0.18–0.88)] | Long | Clinical, biochemical, and endoscopic data or the need for abdominal surgery | TLR2 | Pathogen recognition | [35] |
| rs1061624 | AA or GA | CD | R: 132 [0.03 (HR: 0.04; 0.18–0.92] | Long | Clinical, biochemical, and endoscopic data or the need for abdominal surgery | TNFRSF1B | TNF-α pathway; inflammation | [35] |
| rs763110 | CC or CT | CD | NR: 125 [0.041 (OR 4.00 (1.10–22.40)] | Short | No clinical response to IFX induction infusions | FAS-L | Apoptosis | [38] |
| rs396991 | GG | CD and UC | NR: 76 (pediatric) [0.01 (OR: 6.58; 1.91–23.17)] | Long | PCDAI and PUCAI | FCGR3A | Antibody-dependent immune responses | [37] |
NRf (allele/genotype frequency higher in nonresponsive patients), Rf (allele/genotype frequency higher in responsive patients), UC (ulcerative colitis), CD (Crohn’s disease), PCDAI (Weighted Pediatric Crohn’s Disease Activity Index), PUCAI (Pediatric Ulcerative Colitis Activity Index), Harvey–Bradshaw index (HBI), R (response), NR (non-response), HR (hazards ratio), OR (odds ratio), CI (confidence interval), IFX (infliximab), TNF (tumor necrosis factor).