Table 2. CD phenotype stratified by the IVS4+10 A>C variant (rs72796353).
| NOD2 rs72796353 | (1) | (2) | (1) vs. (2) | (1) vs. (2) | (1) vs. (2) |
|---|---|---|---|---|---|
| genotype status | AC/CC/-NOD2 | NOD2 wild-type | p-value | OR | 95% CI |
| n = 45 | n = 593 | ||||
| Male sex (%) | |||||
| 24 (53%) | 271 (45%) | 0.282 | 1.40 | [0.76–2.56] | |
| Age at diagnosis (yrs, based on median OR+CI for > median) | |||||
| Mean ± SD | 25.2 ± 11.0 | 27.9 ± 12.1 | 0.632 | 1.16 | [0.63–2.16] |
| Range | (10–58) | (4–78) | |||
| Disease duration (yrs, based on median OR+CI for > median) | |||||
| Mean ± SD | 17.3 ± 10.1 | 14.5 ± 9.3 | 0.163 | 0.65 | [0.35–1.19] |
| Range | (3–39) | (0–42) | |||
| Body mass index (kg/m², based on median OR+CI for > median) | |||||
| Mean ± SD | 23.3 ± 4.5 | 23.3 ± 4.3 | 0.855 | 1.06 | [0.55–2.08] |
| Range | (15.9–32.7) | (15.6–39.8) | |||
| Age at diagnosis | |||||
| (n = 41) | (n = 542) | ||||
| ≤16 years (A1) | 9 (22%) | 73 (14%) | 0.142 | 0.56 | [0.26–1.21] |
| 17–40 years (A2) | 28 (68%) | 396 (73%) | 0.533 | 1.22 | [0.65–2.28] |
| > 40 years (A3) | 4 (10%) | 73 (14%) | 0.499 | 1.44 | [0.50–4.13] |
| Location | |||||
| (n = 45) | (n = 562) | ||||
| Terminal ileum (L1) | 8 (18%) | 114 (20%) | 0.974 | 1.01 | [0.46–2.24] |
| Colon (L2) | 8 (18%) | 87 (16%) | 0.450 | 0.73 | [0.33–1.64] |
| Ileocolon (L3) | 28 (62%) | 350 (62%) | 0.195 | 0.66 | [0.35–1.24] |
| Upper GI (L4) | 1 (2%) | 11 (2%) | 0.902 | 0.88 | [0.11–6.96] |
| Any ileal involvement (L1+L3) | 36 (81%) | 464 (83%) | 0.066 | 0.50 | [0.23–1.05] |
| Behaviour 1 | |||||
| (n = 43) | (n = 543) | ||||
| Non-stricturing, Non-penetrat. (B1) | 6 (14%) | 166 (30%) | 0.129 | 1.80 | [0.84–3.83] |
| Stricturing (B2) | 10 (23%) | 145 (27%) | 0.747 | 0.90 | [0.46–1.74] |
| Penetrating (B3) | 27 (63%) | 232 (43%) | 0.014 | 0.45 | [0.24–0.85] |
| Use of immunosuppressive agents 2 | |||||
| (n = 45) | (n = 561) | 0.118 | 0.43 | [0.15–1.24] | |
| 40 (89%) | 450 (80%) | ||||
| Surgery because of CD 3 | |||||
| (n = 41) | (n = 540) | ||||
| 29 (71%) | 274 (51%) | 0.021 | 0.44 | [0.22–0.89] | |
| Fistulas | |||||
| (n = 43) | (n = 543) | ||||
| 27 (63%) | 232 (43%) | 0.014 | 0.45 | [0.24–0.85] | |
| Perianal fistulas | |||||
| 19/43 (44%) | 71/544 (13%) | 2.781 x 10−7 | 0.19 | [0.10–0.35] | |
| Stenosis | |||||
| (n = 41) | (n = 546) | ||||
| 24 (59%) | 308 (56%) | 0.841 | 0.94 | [0.49–1.78] | |
Group (1), 43 CD patients heterozygous for the C allele of the rs72796353 variant and no further main NOD2 mutant, and 2 patients homozygous for the C allele of the rs72796353 variant; group (2), CD patients without the IVS4+10 A>C variant and with no further main NOD2 mutant (NOD2 wild-type). ORs are based on the NOD2 wild-type group (e.g., NOD2 wild-type status is protective against perianal fistulas).
1 Disease behaviour was defined according to the Montreal classification. A stricturing disease phenotype was defined as presence of stenosis without penetrating disease. The diagnosis of stenosis was made surgically, endoscopically, or radiologically (using MR enteroclysis).
2 Immunosuppressive agents included azathioprine, 6-mercaptopurine, methotrexate, infliximab, and/or adalimumab.
3 Only surgery related to CD-specific problems (e.g., ileocecal resection, fistulectomy, colectomy, ileostomy) was included.