Crohn disease is a chronic, relapsing inflammatory bowel disease (IBD) characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 mutations. Evidence exists that the NOD2 polymorphisms impair NF-kappaB activation and cytokine secretion in response to its ligand. The pathogenesis of Crohn's disease is also attributed to intestinal bacteria that may initiate mucosal inflammation in genetically susceptible individuals. Additional genes associated with the disease are recently being identified.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Inflammatory bowel diseases
DD70 Crohn disease
H00286 Crohn disease
Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, Jewell D, Cardon L, Takazoe M, Tanaka T, Ichimori T, Saito S, Sekine A, Iida A, Takahashi A, Tsunoda T, Lathrop M, Nakamura Y
Title
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.
Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH
Title
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Gunther S, Prescott NJ, Onnie CM, Hasler R, Sipos B, Folsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S
Title
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
Detection and verification of Mycobacterium avium subsp. paratuberculosis in fresh ileocolonic mucosal biopsy specimens from individuals with and without Crohn's disease.
