| H01227 | |
| H番号 | H01227 |
| 名称 | 炎症性腸疾患 (IBD) |
| 概要 | Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding, and malabsorption. In most patients, these disorders are manifested in adolescence or adulthood, however, they may present in infancy and may be inherited as an autosomal recessive trait. It has been reported that mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine. Additional genes associated with the disease have been identified. |
| カテゴリ | 免疫系疾患 疾患パスウェイ hsa05321 炎症性腸疾患 |
| ネットワーク | nt06518(H01227) JAK-STAT signaling nt06521(H01227) NLR signaling |
| 病因遺伝子 | (IBD1) NOD2 [HSA:64127] [KO:K10165] (IBD10) ATG16L1 [HSA:55054] [KO:K17890] (IBD13) ABCB1 [HSA:5243] [KO:K05658] (IBD14) IRF5 [HSA:3663] [KO:K09446] (IBD17) IL23R [HSA:149233] [KO:K05065] (IBD19) IRGM [HSA:345611] [KO:K14139] (IBD25) IL10RB [HSA:3588] [KO:K05135] (IBD28) IL10RA [HSA:3587] [KO:K05134] (IBD29) INAVA [HSA:55765] [KO:K26459] (IBD30) CARD8 [HSA:22900] [KO:K12801] (IBD31) IL37 [HSA:27178] [KO:K05485] IL10 [HSA:3586] [KO:K05443] MST1 [HSA:4485] [KO:K23441] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: DD70 DD71 DD72 MeSH: D015212 OMIM: 266600 611081 612241 612244 612245 612261 612278 612381 612567 613148 618077 619079 619398 |
| 文献 | 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 PMID:11385576 (NOD2) 著者 Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G タイトル Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 雑誌 Nature 411:599-603 (2001) DOI:10.1038/35079107 PMID:18852889 (ATG16L1) 著者 Kuballa P, Huett A, Rioux JD, Daly MJ, Xavier RJ タイトル Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant. 雑誌 PLoS One 3:e3391 (2008) DOI:10.1371/journal.pone.0003391 PMID:14610718 (ABCB1) 著者 Brant SR, Panhuysen CI, Nicolae D, Reddy DM, Bonen DK, Karaliukas R, Zhang L, Swanson E, Datta LW, Moran T, Ravenhill G, Duerr RH, Achkar JP, Karban AS, Cho JH タイトル MDR1 Ala893 polymorphism is associated with inflammatory bowel disease. 雑誌 Am J Hum Genet 73:1282-92 (2003) DOI:10.1086/379927 PMID:17881657 (IRF5) 著者 Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, Syvanen AC タイトル An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. 雑誌 Hum Mol Genet 16:3008-16 (2007) DOI:10.1093/hmg/ddm259 PMID:17068223 (IL23R) 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:21278745 (IRGM) 著者 Brest P, Lapaquette P, Souidi M, Lebrigand K, Cesaro A, Vouret-Craviari V, Mari B, Barbry P, Mosnier JF, Hebuterne X, Harel-Bellan A, Mograbi B, Darfeuille-Michaud A, Hofman P タイトル A synonymous variant in IRGM alters a binding site for miR-196 and causes deregulation of IRGM-dependent xenophagy in Crohn's disease. 雑誌 Nat Genet 43:242-5 (2011) DOI:10.1038/ng.762 PMID:19890111 (IL10RB IL10RA) 著者 Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C タイトル Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. 雑誌 N Engl J Med 361:2033-45 (2009) DOI:10.1056/NEJMoa0907206 PMID:28436939 (INAVA) 著者 Yan J, Hedl M, Abraham C タイトル An inflammatory bowel disease-risk variant in INAVA decreases pattern recognition receptor-induced outcomes. 雑誌 J Clin Invest 127:2192-2205 (2017) DOI:10.1172/JCI86282 PMID:29408806 (CARD8) 著者 Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W タイトル Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease. 雑誌 J Clin Invest 128:1793-1806 (2018) DOI:10.1172/JCI98642 PMID:33674380 (IL37) 著者 Zhang ZZ, Zhang Y, He T, Sweeney CL, Baris S, Karakoc-Aydiner E, Yao Y, Ertem D, Matthews HF, Gonzaga-Jauregui C, Malech HL, Su HC, Ozen A, Smith KGC, Lenardo MJ タイトル Homozygous IL37 mutation associated with infantile inflammatory bowel disease. 雑誌 Proc Natl Acad Sci U S A 118:e2009217118 (2021) DOI:10.1073/pnas.2009217118 PMID:18836448 (IL10) 著者 Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH, Mathew CG, Schreiber S タイトル Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. 雑誌 Nat Genet 40:1319-23 (2008) DOI:10.1038/ng.221 PMID:19079170 (MST1) 著者 Goyette P, Lefebvre C, Ng A, Brant SR, Cho JH, Duerr RH, Silverberg MS, Taylor KD, Latiano A, Aumais G, Deslandres C, Jobin G, Annese V, Daly MJ, Xavier RJ, Rioux JD タイトル Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis. 雑誌 Mucosal Immunol 1:131-8 (2008) DOI:10.1038/mi.2007.15 |