Περίληψη:
Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 × 10-8), increasing the number of ulcerative colitis-associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis. © 2011 Nature America, Inc. All rights reserved.
Συγγραφείς:
Anderson, C.A.
Boucher, G.
Lees, C.W.
Franke, A.
D'Amato, M.
Taylor, K.D.
Lee, J.C.
Goyette, P.
Imielinski, M.
Latiano, A.
Lagacé, C.
Scott, R.
Amininejad, L.
Bumpstead, S.
Baidoo, L.
Baldassano, R.N.
Barclay, M.
Bayless, T.M.
Brand, S.
Büning, C.
Colombel, J.-F.
Denson, L.A.
De Vos, M.
Dubinsky, M.
Edwards, C.
Ellinghaus, D.
Fehrmann, R.S.N.
Floyd, J.A.B.
Florin, T.
Franchimont, D.
Franke, L.
Georges, M.
Glas, J.
Glazer, N.L.
Guthery, S.L.
Haritunians, T.
Hayward, N.K.
Hugot, J.-P.
Jobin, G.
Laukens, D.
Lawrance, I.
Lémann, M.
Levine, A.
Libioulle, C.
Louis, E.
McGovern, D.P.
Milla, M.
Montgomery, G.W.
Morley, K.I.
Mowat, C.
Ng, A.
Newman, W.
Ophoff, R.A.
Papi, L.
Palmieri, O.
Peyrin-Biroulet, L.
Panés, J.
Phillips, A.
Prescott, N.J.
Proctor, D.D.
Roberts, R.
Russell, R.
Rutgeerts, P.
Sanderson, J.
Sans, M.
Schumm, P.
Seibold, F.
Sharma, Y.
Simms, L.A.
Seielstad, M.
Steinhart, A.H.
Targan, S.R.
Van Den Berg, L.H.
Vatn, M.
Verspaget, H.
Walters, T.
Wijmenga, C.
Wilson, D.C.
Westra, H.-J.
Xavier, R.J.
Zhao, Z.Z.
Ponsioen, C.Y.
Andersen, V.
Torkvist, L.
Gazouli, M.
Anagnou, N.P.
Karlsen, T.H.
Kupcinskas, L.
Sventoraityte, J.
Mansfield, J.C.
Kugathasan, S.
Silverberg, M.S.
Halfvarson, J.
Rotter, J.I.
Mathew, C.G.
Griffiths, A.M.
Gearry, R.
Ahmad, T.
Brant, S.R.
Chamaillard, M.
Satsangi, J.
Cho, J.H.
Schreiber, S.
Daly, M.J.
Barrett, J.C.
Parkes, M.
Annese, V.
Hakonarson, H.
Radford-Smith, G.
Duerr, R.H.
Vermeire, S.
Weersma, R.K.
Rioux, J.D.
