banner

Författare: Söderholm Johan Dabrosin, Pettersson Sven

Titel: Polygenetisk störning i första linjens mukosaförsvar (serie: Tema kronisk tarminflammation) 2009 nr 45 sid 2974-8

Läs/ladda hem artikeln:
Översikt
Fullständig referenslista
Artikeln i pdf-format
Artikeln i webbversion
Sid 2974
Sid 2975
Sid 2976
Sid 2977
Sid 2978
Om Läkartidningens fulltext på Internet
Ämnesord:
Inflammatoriska tarmsjukdomar
Tarmslemhinna
Genetiska sjukdomsanlag



















Sök liknande artiklar

Referenser:
(1) Tysk C, Lindberg E, Jarnerot G, Floderus-Myrhed B. Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut 1988; 29(7):990-996.
(2) Hugot JP, Laurent-Puig P, Gower-Rousseau C, Olson JM, Lee JC, Beaugerie L et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 1996; 379(6568):821-823.
(3) Satsangi J, Parkes M, Louis E, Hashimoto L, Kato N, Welsh K et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet 1996; 14(2):199-202.
(4) Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001; 411(6837):603-606.
(5) Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411(6837):599-603.
(6) Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 2008; 40(8):955-962.
(7) Xavier RJ, Podolsky DK. Unravelling the pathogenesis of inflammatory bowel disease. Nature 2007; 448(7152):427-434.
(8) Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet 2007; 39(2):207-211.
(9) Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007; 39(5):596-604.
(10) Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007; 39(7):830-832.
(11) Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 2004; 36(5):471-475.
(12) Libioulle C, Louis E, Hansoul S, Sandor C, Farnir F, Franchimont D et al. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet 2007; 3(4):e58.
(13) D'Amato M, Bruce S, Bresso F, Zucchelli M, Ezer S, Pulkkinen V et al. Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease. Gastroenterology 2007; 133(3):808-817.
(14) Vendelin J, Pulkkinen V, Rehn M, Pirskanen A, Raisanen-Sokolowski A, Laitinen A et al. Characterization of GPRA, a novel G protein-coupled receptor related to asthma. Am J Respir Cell Mol Biol 2005; 33(3):262-270.
(15) Villani AC, Lemire M, Fortin G, Louis E, Silverberg MS, Collette C et al. Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet 2009; 41(1):71-76.
(16) Schoultz I, Verma D, Halfvarsson J, Torkvist L, Fredrikson M, Sjoqvist U et al. Combined Polymorphisms in Genes Encoding the Inflammasome Components NALP3 and CARD8 Confer Susceptibility to Crohn's Disease in Swedish Men. Am J Gastroenterol 2009.
(17) Kastbom A, Verma D, Eriksson P, Skogh T, Wingren G, Soderkvist P. Genetic variation in proteins of the cryopyrin inflammasome influences susceptibility and severity of rheumatoid arthritis (the Swedish TIRA project). Rheumatology (Oxford) 2008; 47(4):415-417.
(18) Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314(5804):1461-1463.
(19) Torkvist L, Noble CL, Lordal M, Sjoqvist U, Lindforss U, Nimmo ER et al. Contribution of CARD15 variants in determining susceptibility to Crohn's disease in Sweden. Scand J Gastroenterol 2006; 41(6):700-705.
(20) Ouyang Q, Tandon R, Goh KL, Ooi CJ, Ogata H, Fiocchi C. The emergence of inflammatory bowel disease in the Asian Pacific region. Curr Opin Gastroenterol 2005; 21(4):408-413.
(21) Inoue N, Tamura K, Kinouchi Y, Fukuda Y, Takahashi S, Ogura Y et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002; 123(1):86-91.
(22) Hooper LV, Wong MH, Thelin A, Hansson L, Falk PG, Gordon JI. Molecular analysis of commensal host-microbial relationships in the intestine. Science 2001; 291(5505):881-884.
(23) Darfeuille-Michaud A, Boudeau J, Bulois P, Neut C, Glasser AL, Barnich N et al. High prevalence of adherent-invasive Escherichia coli associated with ileal mucosa in Crohn's disease. Gastroenterology 2004; 127(2):412-421.
(24) Martin HM, Campbell BJ, Hart CA, Mpofu C, Nayar M, Singh R et al. Enhanced Escherichia coli adherence and invasion in Crohn's disease and colon cancer. Gastroenterology 2004; 127(1):80-93.
(25) Barnich N, Carvalho FA, Glasser AL, Darcha C, Jantscheff P, Allez M et al. CEACAM6 acts as a receptor for adherent-invasive E. coli, supporting ileal mucosa colonization in Crohn disease. J Clin Invest 2007; 117(6):1566-1574.
(26) Mpofu CM, Campbell BJ, Subramanian S, Marshall-Clarke S, Hart CA, Cross A et al. Microbial mannan inhibits bacterial killing by macrophages: a possible pathogenic mechanism for Crohn's disease. Gastroenterology 2007; 133(5):1487-1498.
(27) Sokol H, Pigneur B, Watterlot L, Lakhdari O, Bermudez-Humaran LG, Gratadoux JJ et al. Faecalibacterium prausnitzii is an anti-inflammatory commensal bacterium identified by gut microbiota analysis of Crohn disease patients. Proc Natl Acad Sci U S A 2008; 105(43):16731-16736.
(28) Willing B, Halfvarson J, Dicksved J, Rosenquist M, Jarnerot G, Engstrand L et al. Twin studies reveal specific imbalances in the mucosa-associated microbiota of patients with ileal Crohn's disease. Inflamm Bowel Dis 2009; 15(5):653-660.
(29) Rutgeerts P, Goboes K, Peeters M, Hiele M, Penninckx F, Aerts R et al. Effect of faecal stream diversion on recurrence of Crohn's disease in the neoterminal ileum. Lancet 1991; 338(8770):771-774.
(30) D'Haens GR, Geboes K, Peeters M, Baert F, Penninckx F, Rutgeerts P. Early lesions of recurrent Crohn's disease caused by infusion of intestinal contents in excluded ileum. Gastroenterology 1998; 114(2):262-267.
(31) Rutgeerts P, Van Assche G, Vermeire S, D'Haens G, Baert F, Noman M et al. Ornidazole for prophylaxis of postoperative Crohn's disease recurrence: a randomized, double-blind, placebo-controlled trial. Gastroenterology 2005; 128(4):856-861.
(32) Rembacken BJ, Snelling AM, Hawkey PM, Chalmers DM, Axon AT. Non-pathogenic Escherichia coli versus mesalazine for the treatment of ulcerative colitis: a randomised trial. Lancet 1999; 354(9179):635-639.
(33) Kruis W, Fric P, Pokrotnieks J, Lukas M, Fixa B, Kascak M et al. Maintaining remission of ulcerative colitis with the probiotic Escherichia coli Nissle 1917 is as effective as with standard mesalazine. Gut 2004; 53(11):1617-1623.
(34) Gionchetti P, Rizzello F, Venturi A, Brigidi P, Matteuzzi D, Bazzocchi G et al. Oral bacteriotherapy as maintenance treatment in patients with chronic pouchitis: a double-blind, placebo-controlled trial. Gastroenterology 2000; 119(2):305-309.
(35) Biancone L, Michetti P, Travis SP, Escher JC, Moser G, Forbes A et al. European evidence-based Consensus on the management of ulcerative colitis: Special situations. Journal of Crohn's and Colitis 2008; 2(1):63-92.
(36) Are A, Aronsson L, Wang S, Greicius G, Lee YK, Gustafsson JA et al. Enterococcus faecalis from newborn babies regulate endogenous PPARgamma activity and IL-10 levels in colonic epithelial cells. Proc Natl Acad Sci U S A 2008; 105(6):1943-1948.
(37) Lundin A, Bok CM, Aronsson L, Bjorkholm B, Gustafsson JA, Pott S et al. Gut flora, Toll-like receptors and nuclear receptors: a tripartite communication that tunes innate immunity in large intestine. Cell Microbiol 2008; 10(5):1093-1103.
(38) Hooper LV, Wong MH, Thelin A, Hansson L, Falk PG, Gordon JI. Molecular analysis of commensal host-microbial relationships in the intestine. Science 2001; 291(5505):881-884.
(39) Schmitz H, Barmeyer C, Fromm M, Runkel N, Foss HD, Bentzel CJ et al. Altered tight junction structure contributes to the impaired epithelial barrier function in ulcerative colitis. Gastroenterology 1999; 116(2):301-309.
(40) Almer S, Franzen L, Olaison G, Smedh K, Strom M. Increased absorption of polyethylene glycol 600 deposited in the colon in active ulcerative colitis. Gut 1993; 34(4):509-513.
(41) Schurmann G, Bruwer M, Klotz A, Schmid KW, Senninger N, Zimmer KP. Transepithelial transport processes at the intestinal mucosa in inflammatory bowel disease. Int J Colorectal Dis 1999; 14(1):41-46.
(42) Nejdfors P, Wang Q, Ekelund M, Westrom BR, Jansson O, Lindstrom CL et al. Increased colonic permeability in patients with ulcerative colitis: an in vitro study. Scand J Gastroenterol 1998; 33(7):749-753.
(43) Heller F, Florian P, Bojarski C, Richter J, Christ M, Hillenbrand B et al. Interleukin-13 is the key effector Th2 cytokine in ulcerative colitis that affects epithelial tight junctions, apoptosis, and cell restitution. Gastroenterology 2005; 129(2):550-564.
(44) Dubuquoy L, Jansson EA, Deeb S, Rakotobe S, Karoui M, Colombel JF et al. Impaired expression of peroxisome proliferator-activated receptor gamma in ulcerative colitis. Gastroenterology 2003; 124(5):1265-1276.
(45) Soderholm JD, Olaison G, Lindberg E, Hannestad U, Vindels A, Tysk C et al. Different intestinal permeability patterns in relatives and spouses of patients with Crohn's disease: an inherited defect in mucosal defence? Gut 1999; 44(1):96-100.
(46) May GR, Sutherland LR, Meddings JB. Is small intestinal permeability really increased in relatives of patients with Crohn's disease? Gastroenterology 1993; 104(6):1627-1632.
(47) Buhner S, Buning C, Genschel J, Kling K, Herrmann D, Dignass A et al. Genetic basis for increased intestinal permeability in families with Crohn's disease: role of CARD15 3020insC mutation? Gut 2006; 55(3):342-347.
(48) Soderholm JD, Streutker C, Yang PC, Paterson C, Singh PK, McKay DM et al. Increased epithelial uptake of protein antigens in the ileum of Crohn's disease mediated by tumour necrosis factor alpha. Gut 2004; 53(12):1817-1824.
(49) Suenaert P, Bulteel V, Lemmens L, Noman M, Geypens B, Van Assche G et al. Anti-tumor necrosis factor treatment restores the gut barrier in Crohn's disease. Am J Gastroenterol 2002; 97(8):2000-2004.
(50) Zeissig S, Bojarski C, Buergel N, Mankertz J, Zeitz M, Fromm M et al. Downregulation of epithelial apoptosis and barrier repair in active Crohn's disease by tumour necrosis factor alpha antibody treatment. Gut 2004; 53(9):1295-1302.
(51) Wehkamp J, Salzman NH, Porter E, Nuding S, Weichenthal M, Petras RE et al. Reduced Paneth cell alpha-defensins in ileal Crohn's disease. Proc Natl Acad Sci U S A 2005; 102(50):18129-18134.
(52) Wehkamp J, Harder J, Weichenthal M, Schwab M, Schaffeler E, Schlee M et al. NOD2 (CARD15) mutations in Crohn's disease are associated with diminished mucosal alpha-defensin expression. Gut 2004; 53(11):1658-1664.
(53) Wehkamp J, Wang G, Kubler I, Nuding S, Gregorieff A, Schnabel A et al. The Paneth cell alpha-defensin deficiency of ileal Crohn's disease is linked to Wnt/Tcf-4. J Immunol 2007; 179(5):3109-3118.
(54) Ogura Y, Lala S, Xin W, Smith E, Dowds TA, Chen FF et al. Expression of NOD2 in Paneth cells: a possible link to Crohn's ileitis. Gut 2003; 52(11):1591-1597.
(55) Keita A, Salim S, Jiang T, Yang PC, Franzen L, Soderkvist P et al. Increased uptake of non-pathogenic E. coli via the follicle-associated epithelium in longstanding ileal Crohn's disease. J Pathol 2008.
(56) Salim SY, Silva MA, Keita AV, Larsson M, Andersson P, Magnusson KE et al. CD83+CCR7- dendritic cells accumulate in the subepithelial dome and internalize translocated Escherichia coli HB101 in the Peyer's patches of ileal Crohn's disease. Am J Pathol 2009; 174(1):82-90.
(57) Uhlig HH, McKenzie BS, Hue S, Thompson C, Joyce-Shaikh B, Stepankova R et al. Differential activity of IL-12 and IL-23 in mucosal and systemic innate immune pathology. Immunity 2006; 25(2):309-318.
(58) Atreya I, Atreya R, Neurath MF. NF-kappaB in inflammatory bowel disease. J Intern Med 2008; 263(6):591-596.
(59) Zhou C, Tabb MM, Nelson EL, Grun F, Verma S, Sadatrafiei A et al. Mutual repression between steroid and xenobiotic receptor and NF-kappaB signaling pathways links xenobiotic metabolism and inflammation. J Clin Invest 2006; 116(8):2280-2289.
(60) Coste A, Dubuquoy L, Barnouin R, Annicotte JS, Magnier B, Notti M et al. LRH-1-mediated glucocorticoid synthesis in enterocytes protects against inflammatory bowel disease. Proc Natl Acad Sci U S A 2007; 104(32):13098-13103.