Table 3. CD phenotype stratified by disease course.
| Aggressive disease behaviour | Mild disease behaviour | |||
| Genetic marker | (stenosis and/or fistula and/or CD-related surgery; n = 403) | (no stenosis, no fistula, no CD-related surgery = inflammatory disease type; n = 147) | p-value | |
| rs12212067 | G-allele (%) | 98/806 (12.2) | 42/294 (14.3) | |
| 0.35 | ||||
| T-allele (%) | 708/806 (87.8) | 252/294 (85.7) | ||
| rs2066844 | T-allele (%) | 78/806 (9.7) | 29/294 (9.9) | |
| 0.93 | ||||
| C-allele (%) | 728/806 (90.3) | 265/294 (90.1) | ||
| rs2066845 | C-allele (%) | 37/806 (4.6) | 10/294 (3.4) | |
| 0.39 | ||||
| G-allele (%) | 769/806 (95.4) | 284/294 (86.6) | ||
| rs2066847 | X-allele (%) | 123/806 (15.3) | 17/294 (5.8) | |
| 2.99×10−5 | ||||
| C-allele (%) | 683/806 (84.7) | 277/294 (94.2) |
Aggressive disease behaviour was defined as stricturing and/or penetrating disease course ± CD-related surgery. Given are the allele frequencies (upper line: minor allele frequency in bold, bottom line: major allele frequency) for CD patients with an aggressive or with a mild disease behaviour, respectively, for the FOXOA3 SNP rs12212067 and for the three main NOD2 mutants rs2068844, rs2066845, and rs2066847. Only the p.Leu1007fsX1008 frameshift mutation in exon 11 of the NOD2 gene (rs2066847) was significantly associated with an aggressive disease behaviour in patients with CD (p = 2.99×10−5, Chi-squared test). For the two other NOD2 mutants and especially for the FOXO3A SNP rs12212067, no significant differences were seen in the allele frequencies in patients with aggressive vs. mild disease behaviour. Some parts of the NOD2 data have already been published elsewhere [4], [28], [30].