KEGG   DISEASE: H00286Help
Entry
H00286                      Disease                                

Name
Crohn's disease
Description
Crohn's disease is a chronic, relapsing inflammatory bowel disease 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 polymorphysms 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 hierarchy
Pathway
NOD-like receptor signaling pathway
Gene
NOD2 [HSA:64127] [KO:K10165]
SLC22A4 (polymorphysm) [HSA:6583] [KO:K08202]
SLC22A5 (polymorphysm) [HSA:6584] [KO:K08202]
TNFSF15 (polymorphysm) [HSA:9966] [KO:K05478]
IL23R (polymorphysm) [HSA:149233] [KO:K05065]
ATG16L1 (polymorphysm) [HSA:55054] [KO:K17890]
Env factor
Infectious diseases
Food preferences
Pathogen
Mycobacterium avium subsp. [GN:mav mpa mao]
Escherichia coli (AIEC) [GN:eln elu]
Drug
Infliximab [DR:D02598]
Comment
The polymorphysm in the TNFSF15 gene contribute to the susceptibility to Crohn's disease in the Japanese.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:11385577 (gene)
  Authors
Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH
  Title
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
  Journal
Nature 411:603-6 (2001)
Reference
PMID:15107849 (gene)
  Authors
Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA
  Title
Functional variants of OCTN cation transporter genes are associated with Crohn disease.
  Journal
Nat Genet 36:471-5 (2004)
Reference
PMID:16221758 (gene)
  Authors
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.
  Journal
Hum Mol Genet 14:3499-506 (2005)
Reference
PMID:17068223 (gene)
  Authors
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.
  Journal
Science 314:1461-3 (2006)
Reference
PMID:17200669 (gene)
  Authors
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.
  Journal
Nat Genet 39:207-11 (2007)
Reference
PMID:12843021 (env_factor)
  Authors
Bull TJ, McMinn EJ, Sidi-Boumedine K, Skull A, Durkin D, Neild P, Rhodes G, Pickup R, Hermon-Taylor J
  Title
Detection and verification of Mycobacterium avium subsp. paratuberculosis in fresh ileocolonic mucosal biopsy specimens from individuals with and without Crohn's disease.
  Journal
J Clin Microbiol 41:2915-23 (2003)

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