Biomarker Polymorphisms Severity of Crohn's Disease References
Small bowel Involvement
Fibrostenosing phenotype
Stricturing and penetrating disease
Increased risk for surgery
Abreu et al. [28]
Kugathasan et al. [39]
TLR4 Asp299Gly
Stricturing disease Brand et al. [51]
TNFα 857C Stricturing and fistulating disease Fowler et al. [52]
PERIOD3 rs2797685 Stricturing and fistulating disease Mazzoccoli et al. [55]
PTPN2 rs7234029 Stricturing disease Glas et al. [56]
IL10 1082G Stricturing disease Fowler et al. [52]
IL23R rs1004819
Stricturing and penetrating disease Yang et al. [58]
Lappalainen et al. [59]
JAK2 rs10758669 Ileocolonic disease
Stricture formation
Ferguson et al. [60]
IL12B rs6887695 Non-stricturing and
Non-penetrating disease
Glas et al. [61]
RAGE rs1800624 Non-stricturing disease Däbritz et al. [62]
NOD2: Nucleotide-binding Oligomerization Domain-containing protein 2; TLR4: Toll-like Receptor 4; TNFα: Tumor Necrosis Factor alpha; PTPN2: Protein Tyrosine Phosphatase, Non-receptor type 2; IL10: Interleukin 10; IL23R: Interleukin 23 Receptor complex; JAK2: Janus Kinase 2; IL12B: Interleukin 12 beta; RAGE: Receptor for Advanced Glycation End products
Table 1: Genetic Markers of Severity in Crohn’s Disease. Key markers involved in innate immune response in Crohn’s disease. Mutations in these markers are associated with specific severity phenotypes thus lending a prognostic or predictive role in disease management.