Colitis, Ulcerative/genetics; Crohn Disease/genetics; Genome-Wide Association Study; Humans; Risk
Abstract :
[en] 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 x 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Anderson, Carl A
Boucher, Gabrielle
Lees, Charlie W
Franke, Andre
D'Amato, Mauro
Taylor, Kent D
Lee, James C
Goyette, Philippe
Imielinski, Marcin
Latiano, Anna
Lagace, Caroline
Scott, Regan
Amininejad, Leila
Bumpstead, Suzannah
Baidoo, Leonard
Baldassano, Robert N
Barclay, Murray
Bayless, Theodore M
Brand, Stephan
Buning, Carsten
Colombel, Jean*-Frederic
Denson, Lee A
DEVOS, Martine ; Centre Hospitalier Universitaire de Liège - CHU > Centre d'oncologie
Dubinsky, Marla
Edwards, Cathryn
Ellinghaus, David
Fehrmann, Rudolf S N
Floyd, James A. B.
Florin, Timothy
Franchimont, Denis
Franke, Lude
Georges, Michel ; Université de Liège - ULiège > Département de productions animales > GIGA-R : Génomique animale
Glas, Jurgen
Glazer, Nicole L
Guthery, Stephen L
Haritunians, Talin
Hayward, Nicholas K
Hugot, Jean*-Pierre
Jobin, Gilles
Laukens, Debby
Lawrance, Ian
Lemann, Marc
Levine, Arie
LIBIOULLE, Cécile ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
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