Genetic susceptibility and genotype–phenotype association in 588 Danish children with inflammatory bowel disease

Abstract Aim To investigate the association between known inflammatory bowel disease (IBD)-associated genetic variants and development of paediatric IBD, and specific clinical sub-phenotypes. Material and methods In this case–control study we included IBD patients Results A total of 588 IBD patients (244 Crohn's disease (CD), 318 ulcerative colitis (UC) and 26 IBD-unclassified (IBDU)) and 543 healthy controls were included. We found an association between CD and rs22411880 ( ATG16L1 , odds ratio (OR) = 1.7 [1.1–1.7], p = 0.003), rs5743289 ( NOD2 , OR = 1.4 [1.1–1.9], p = 0.009) and the paediatric specific rs1250550 ( ZMIZ1 , OR = 0.7 [0.5–0.9], p = 0.01). None of the investigated 41 SNPs were associated with disease localisation, medical treatment or surgery after correcting for multiple analyses. Conclusion We found an association between CD and three previously published genetic variants and replicated the association with the paediatric specific ZMIZ1 gene. No Bonferroni corrected significant genotype–phenotype associations were found. For future studies aimed at finding predictors for disease course in (paediatric) IBD, it will be worthwhile to include a combination of genetic, clinical and serological markers.