Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn's disease and active smoking status resulting in ileal stenosis requiring surgery.

In contrast, a higher minor allele frequency (15.6%) of the p.Leu1007fsX1008 (rs2066847) frameshift mutation was seen in patients with aggressive disease, compared to 8.2% in patients with mild disease which was highly significant (p = 2.63x10 -5 , Table 2 ).

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Accordingly, the proportion of patients with age at first diagnosis of CD ≤ 16 years (A1 according to the Montreal classification) was lower in the NOD2 wild-type group than in the p.Leu1007fsX1008/XC or in the p.Leu1007fsX1008/CC group, although these differences did not reach statistical significance (14.3% of patients with A1 in the wild-type group (XX genotype), compared to 16.2% in the XC group and 22.2% in the CC group, p = 0.207 and p = 0.123, respectively).

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