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Page 1
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar JP, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen JV, Milgrom R, Proctor D, Regueiro M, Schumm PL, Sharma Y, Stempak JM, Targan SR, Wang MH. Rivas MA, et al. Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342. Nat Commun. 2016. PMID: 27503255 Free PMC article.
Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease.
Bresso F, Askling J, Astegiano M, Demarchi B, Sapone N, Rizzetto M, Gionchetti P, Lammers KM, de Leone A, Riegler G, Nimmo ER, Drummond H, Noble C, Torkvist L, Ekbom A, Zucchelli M, Lofberg R, Satsangi J, Pettersson S, D'Amato M. Bresso F, et al. Inflamm Bowel Dis. 2007 May;13(5):531-6. doi: 10.1002/ibd.20067. Inflamm Bowel Dis. 2007. PMID: 17206681
Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease.
D'Amato M, Bruce S, Bresso F, Zucchelli M, Ezer S, Pulkkinen V, Lindgren C, Astegiano M, Rizzetto M, Gionchetti P, Riegler G, Sostegni R, Daperno M, D'Alfonso S, Momigliano-Richiardi P, Torkvist L, Puolakkainen P, Lappalainen M, Paavola-Sakki P, Halme L, Farkkila M, Turunen U, Kontula K, Lofberg R, Pettersson S, Kere J. D'Amato M, et al. Gastroenterology. 2007 Sep;133(3):808-17. doi: 10.1053/j.gastro.2007.06.012. Epub 2007 Jun 20. Gastroenterology. 2007. PMID: 17854592
DMBT1 confers mucosal protection in vivo and a deletion variant is associated with Crohn's disease.
Renner M, Bergmann G, Krebs I, End C, Lyer S, Hilberg F, Helmke B, Gassler N, Autschbach F, Bikker F, Strobel-Freidekind O, Gronert-Sum S, Benner A, Blaich S, Wittig R, Hudler M, Ligtenberg AJ, Madsen J, Holmskov U, Annese V, Latiano A, Schirmacher P, Amerongen AV, D'Amato M, Kioschis P, Hafner M, Poustka A, Mollenhauer J. Renner M, et al. Gastroenterology. 2007 Nov;133(5):1499-509. doi: 10.1053/j.gastro.2007.08.007. Epub 2007 Aug 3. Gastroenterology. 2007. PMID: 17983803
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
Einarsdottir E, Koskinen LL, Dukes E, Kainu K, Suomela S, Lappalainen M, Ziberna F, Korponay-Szabo IR, Kurppa K, Kaukinen K, Adány R, Pocsai Z, Széles G, Färkkilä M, Turunen U, Halme L, Paavola-Sakki P, Not T, Vatta S, Ventura A, Löfberg R, Torkvist L, Bresso F, Halfvarson J, Mäki M, Kontula K, Saarialho-Kere U, Kere J, D'Amato M, Saavalainen P. Einarsdottir E, et al. BMC Med Genet. 2009 Jan 28;10:8. doi: 10.1186/1471-2350-10-8. BMC Med Genet. 2009. PMID: 19175939 Free PMC article.
PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease.
Zucchelli M, Torkvist L, Bresso F, Halfvarson J, Hellquist A, Anedda F, Assadi G, Lindgren GB, Svanfeldt M, Janson M, Noble CL, Pettersson S, Lappalainen M, Paavola-Sakki P, Halme L, Färkkilä M, Turunen U, Satsangi J, Kontula K, Löfberg R, Kere J, D'Amato M. Zucchelli M, et al. Inflamm Bowel Dis. 2009 Oct;15(10):1562-9. doi: 10.1002/ibd.20963. Inflamm Bowel Dis. 2009. PMID: 19462432
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
McGovern DP, Gardet A, Törkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RT, Lagacé C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lördal M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O, Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC, Weersma RK; NIDDK IBD Genetics Consortium; Sharma Y, Silverberg MS, Cho JH, Wu J, Roeder K, Brant SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer NL, Haritunians T, Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR, Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ, Rioux JD, Seielstad M. McGovern DP, et al. Nat Genet. 2010 Apr;42(4):332-7. doi: 10.1038/ng.549. Epub 2010 Mar 14. Nat Genet. 2010. PMID: 20228799 Free PMC article.
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, Georges M, Green T, Haritunians T, Jostins L, Latiano A, Mathew CG, Montgomery GW, Prescott NJ, Raychaudhuri S, Rotter JI, Schumm P, Sharma Y, Simms LA, Taylor KD, Whiteman D, Wijmenga C, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Cohen A, Colombel JF, Cottone M, Stronati L, Denson T, De Vos M, D'Inca R, Dubinsky M, Edwards C, Florin T, Franchimont D, Gearry R, Glas J, Van Gossum A, Guthery SL, Halfvarson J, Verspaget HW, Hugot JP, Karban A, Laukens D, Lawrance I, Lemann M, Levine A, Libioulle C, Louis E, Mowat C, Newman W, Panés J, Phillips A, Proctor DD, Regueiro M, Russell R, Rutgeerts P, Sanderson J, Sans M, Seibold F, Steinhart AH, Stokkers PC, Torkvist L, Kullak-Ublick G, Wilson D, Walters T, Targan SR, Brant SR, Rioux JD, D'Amato M, Weersma RK, Kugathasan S, Griffiths AM, Mansfield JC, Vermeire S, Duerr RH, Silverberg MS, Satsangi J, Schreiber S, Cho JH, Annese V, Hakonarson H, Daly MJ, Parkes M. Franke A, et al. Nat Genet. 2010 Dec;42(12):1118-25. doi: 10.1038/ng.717. Nat Genet. 2010. PMID: 21102463 Free PMC article.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson CA, Boucher G, Lees CW, Franke A, D'Amato M, Taylor KD, Lee JC, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Bumpstead S, Baidoo L, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Colombel JF, Denson LA, De Vos M, Dubinsky M, Edwards C, Ellinghaus D, Fehrmann RS, Floyd JA, Florin T, Franchimont D, Franke L, Georges M, Glas J, Glazer NL, Guthery SL, Haritunians T, Hayward NK, Hugot JP, Jobin G, Laukens D, Lawrance I, Lémann M, Levine A, Libioulle C, Louis E, McGovern DP, Milla M, Montgomery GW, Morley KI, Mowat C, Ng A, Newman W, Ophoff RA, Papi L, Palmieri O, Peyrin-Biroulet L, Panés J, Phillips A, Prescott NJ, Proctor DD, Roberts R, Russell R, Rutgeerts P, Sanderson J, Sans M, Schumm P, Seibold F, Sharma Y, Simms LA, Seielstad M, Steinhart AH, Targan SR, van den Berg LH, Vatn M, Verspaget H, Walters T, Wijmenga C, Wilson DC, Westra HJ, Xavier RJ, Zhao ZZ, Ponsioen CY, Andersen V, Torkvist L, Gazouli M, Anagnou NP, Karlsen TH, Kupcinskas L, Sventoraityte J, Mansfield JC, Kugathasan S, Silverberg MS, Halfvarson J, Rotter JI, Mathew CG, Griffiths AM, Gearry R, Ahmad T, Brant SR, Chamaillard M, Satsangi J, Cho JH, Schreiber S, Daly MJ, Barret… See abstract for full author list ➔ Anderson CA, et al. Nat Genet. 2011 Mar;43(3):246-52. doi: 10.1038/ng.764. Epub 2011 Feb 6. Nat Genet. 2011. PMID: 21297633 Free PMC article.
642 results