| H00286 | |
| H番号 | H00286 |
| 名称 | クローン病 |
| 概要 | Crohn 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 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | NOD2 [HSA:64127] [KO:K10165] SLC22A4 (polymorphism) [HSA:6583] [KO:K08202] SLC22A5 (polymorphism) [HSA:6584] [KO:K08202] TNFSF15 (polymorphism) [HSA:9966] [KO:K05478] IL23R (polymorphism) [HSA:149233] [KO:K05065] ATG16L1 (polymorphism) [HSA:55054] [KO:K17890] IRGM (polymorphism) [HSA:345611] [KO:K14139] IL10RB [HSA:3588] [KO:K05135] IL10RA [HSA:3587] [KO:K05134] |
| 病原体 | Mycobacterium avium subsp. paratuberculosis [GN:mao] Escherichia coli (AIEC) [GN:eln elu elf] |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ブデソニド [DR:D00246] メサラジン [DR:D00377] ベドリズマブ [DR:D08083] インフリキシマブ [DR:D02598] ウパダシチニブ水和物 [DR:D11048] アダリムマブ [DR:D02597] ウステキヌマブ [DR:D09214] リサンキズマブ [DR:D11052] アザチオプリン [DR:D00238] ダルバドストロセル [DR:D11397] |
| コメント | The polymorphysm in the TNFSF15 gene contribute to the susceptibility to Crohn's disease in the Japanese. |
| リンク | ICD-11: DD70 ICD-10: K50 MeSH: D003424 OMIM: 266600 612261 611081 612567 613148 612278 |
| 文献 | PMID:11385577 著者 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 タイトル A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 雑誌 Nature 411:603-6 (2001) DOI:10.1038/35079114 PMID:15107849 著者 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 タイトル Functional variants of OCTN cation transporter genes are associated with Crohn disease. 雑誌 Nat Genet 36:471-5 (2004) DOI:10.1038/ng1339 PMID:16221758 著者 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 タイトル Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. 雑誌 Hum Mol Genet 14:3499-506 (2005) DOI:10.1093/hmg/ddi379 PMID:17068223 著者 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 タイトル A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. 雑誌 Science 314:1461-3 (2006) DOI:10.1126/science.1135245 PMID:17200669 著者 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 タイトル A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. 雑誌 Nat Genet 39:207-11 (2007) DOI:10.1038/ng1954 PMID:12843021 著者 Bull TJ, McMinn EJ, Sidi-Boumedine K, Skull A, Durkin D, Neild P, Rhodes G, Pickup R, Hermon-Taylor J タイトル Detection and verification of Mycobacterium avium subsp. paratuberculosis in fresh ileocolonic mucosal biopsy specimens from individuals with and without Crohn's disease. 雑誌 J Clin Microbiol 41:2915-23 (2003) DOI:10.1128/JCM.41.7.2915-2923.2003 PMID:19923578 著者 Abraham C, Cho JH タイトル Inflammatory bowel disease. 雑誌 N Engl J Med 361:2066-78 (2009) DOI:10.1056/NEJMra0804647 |