The following is a summary of “NOD2 Polymorphisms May Direct a Crohn Disease Phenotype in Patients With Very Early-Onset Inflammatory Bowel Disease,” published in the December 2023  issue of Pediatrics by Watson, et al.

The NOD2/CARD15 gene was the first susceptibility gene identified for Crohn’s disease (CD), which manifests in middle-aged or older individuals. Inheritance of NOD2 polymorphisms in a recessive manner has been suggested as a potential mechanism that drives the development of CD in children. On the other hand, the clinical significance of NOD2 polymorphisms has yet to be completely established in individuals with very early-onset inflammatory bowel disease (VEO-IBD).

A comparison was made between ten patients with inflammatory bowel disease (IBD) who had NOD2 polymorphisms (NOD2+) and 16 patients with IBD who did not have any genetic variations in NOD2 or any other VEO-IBD susceptibility genes (NOD2-). The majority of patients with NOD2+ had a phenotype similar to that of CD (90%), linear growth impairment (90%), and arthropathy (60%), all of which were considerably more prevalent than in the group with NOD2− (P = 0.037, P = 0.004, P = 0.026, respectively). 

The existence of NOD2 polymorphisms in patients with VEO-IBD may be associated with a phenotype similar to that of CD, as well as linear growth impairment and arthropathy, according to their hypothesis. These results need to be verified in bigger cohorts, as they may influence the development of precision therapy for individuals with VEO-IBD.

Source: journals.lww.com/jpgn/abstract/2023/12000/nod2_polymorphisms_may_direct_a_crohn_disease.15.aspx