Ulcerative colitis (UC) is one subtype of inflammatory bowel disease (IBD) whose pathogenesis is multifactorial and includes influences from genes, the environment, and the gut microbiome. In UC the inflammatory is limited to the mucosa of the colon and rectum. Clinically, the most common manifestation of UC may include bloody diarrhea, abdominal pain. In most severe cases, patients may experience fever, weight loss, anemia, and the intestine can get distended, presenting deep ulceration and possibly intestinal perforation.The long-time duration of the disease increases a colorectal cancer risk. UC is associated with a Th2 immune response. Recent genetic analyses have linked genes including interleukin 23 receptor, interleukin 10 and macrophage stimulating 1.
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
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A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
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
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Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
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
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Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
