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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. Among authors: paavola sakki p. Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342. Nat Commun. 2016. PMID: 27503255 Free PMC article.
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. Among authors: paavola sakki p. BMC Med Genet. 2009 Jan 28;10:8. doi: 10.1186/1471-2350-10-8. BMC Med Genet. 2009. PMID: 19175939 Free PMC article.
Erratum: 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. Rivas MA, et al. Among authors: paavola sakki p. Nat Commun. 2016 Sep 13;7:12869. doi: 10.1038/ncomms12869. Nat Commun. 2016. PMID: 27619887 Free PMC article. No abstract available.
Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population.
Parmar AS, Alakulppi N, Paavola-Sakki P, Kurppa K, Halme L, Färkkilä M, Turunen U, Lappalainen M, Kontula K, Kaukinen K, Mäki M, Lindfors K, Partanen J, Sistonen P, Mättö J, Wacklin P, Saavalainen P, Einarsdottir E. Parmar AS, et al. Among authors: paavola sakki p. Tissue Antigens. 2012 Dec;80(6):488-93. doi: 10.1111/tan.12016. Epub 2012 Oct 18. Tissue Antigens. 2012. PMID: 23075394
The IBD international genetics consortium provides further evidence for linkage to IBD4 and shows gene-environment interaction.
Pierik M, Yang H, Barmada MM, Cavanaugh JA, Annese V, Brant SR, Cho JH, Duerr RH, Hugot JP, McGovern DP, Paavola-Sakki P, Radford-Smith GL, Pavli P, Silverberg MS, Schreiber S, Taylor KD, Vlietinck R; IBD International Genetics Consortium. Pierik M, et al. Inflamm Bowel Dis. 2005 Jan;11(1):1-7. doi: 10.1097/00054725-200501000-00001. Inflamm Bowel Dis. 2005. PMID: 15674107
17 results