Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Publication

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Journal Paper/Review - Feb 6, 2011

Phillips Anne, van den Berg Leonard H, Vatn Morten, Verspaget Hein, Walters Thomas, Wijmenga Cisca, Wilson David C, Westra Harm-Jan, Xavier Ramnik J, Zhao Zhen Z, Ponsioen Cyriel Y, Andersen Vibeke, Torkvist Leif, Targan Stephan R, Steinhart A Hillary, Prescott Natalie J, Proctor Deborah D, Roberts Rebecca, Russell Richard, Rutgeerts Paul, Sanderson Jeremy, Sans Miquel, Schumm Philip, Seibold Frank, Sharma Yashoda, Simms Lisa A, Seielstad Mark, Gazouli Maria, Anagnou Nicholas P, Satsangi Jack, Cho Judy H, Schreiber Stefan, Daly Mark J, Barrett Jeffrey C, Parkes Miles, Annese Vito, Hakonarson Hakon, Radford-Smith Graham, Duerr Richard H, Vermeire Severine, Weersma Rinse K, Chamaillard Mathias, Brant Steven R, Karlsen Tom H, Kupcinskas Limas, Sventoraityte Jurgita, Mansfield John C, Kugathasan Subra, Silverberg Mark S, Halfvarson Jonas, Rotter Jerome I, Mathew Christopher G, Griffiths Anne M, Gearry Richard, Ahmad Tariq, Rioux John D, Panés Julián, Anderson Carl A, Baldassano Robert N, Barclay Murray, Bayless Theodore M, Brand Stephan, Büning Carsten, Colombel Jean-Frédéric, Denson Lee A, De Vos Martine, Dubinsky Marla, Edwards Cathryn, Ellinghaus David, Fehrmann Rudolf S N, Baidoo Leonard, Bumpstead Suzannah, Boucher Gabrielle, Lees Charlie W, Franke Andre, D'Amato Mauro, Taylor Kent D, Lee James C, Goyette Philippe, Imielinski Marcin, Latiano Anna, Lagacé Caroline, Scott Regan, Amininejad Leila, Floyd James A B, Florin Timothy, Libioulle Cecile, Louis Edouard, McGovern Dermot P, Milla Monica, Montgomery Grant W, Morley Katherine I, Mowat Craig, Ng Aylwin, Newman William, Ophoff Roel A, Papi Laura, Palmieri Orazio, Levine Arie, Lemann Marc, Franchimont Denis, Franke Lude, Georges Michel, Glas Jürgen, Glazer Nicole L, Guthery Stephen L, Haritunians Talin, Hayward Nicholas K, Hugot Jean-Pierre, Jobin Gilles, Laukens Debby, Lawrance Ian, Peyrin-Biroulet Laurent

Citation

Phillips A, van den Berg L, Vatn M, Verspaget H, Walters T, Wijmenga C, Wilson D, Westra H, Xavier R, Zhao Z, Ponsioen C, Andersen V, Torkvist L, Targan S, Steinhart A, Prescott N, Proctor D, Roberts R, Russell R, Rutgeerts P, Sanderson J, Sans M, Schumm P, Seibold F, Sharma Y, Simms L, Seielstad M, Gazouli M, Anagnou N, Satsangi J, Cho J, Schreiber S, Daly M, Barrett J, Parkes M, Annese V, Hakonarson H, Radford-Smith G, Duerr R, Vermeire S, Weersma R, Chamaillard M, Brant S, Karlsen T, Kupcinskas L, Sventoraityte J, Mansfield J, Kugathasan S, Silverberg M, Halfvarson J, Rotter J, Mathew C, Griffiths A, Gearry R, Ahmad T, Rioux J, Panés J, Anderson C, Baldassano R, Barclay M, Bayless T, Brand S, Büning C, Colombel J, Denson L, De Vos M, Dubinsky M, Edwards C, Ellinghaus D, Fehrmann R, Baidoo L, Bumpstead S, Boucher G, Lees C, Franke A, D'Amato M, Taylor K, Lee J, Goyette P, Imielinski M, Latiano A, Lagacé C, Scott R, Amininejad L, Floyd J, Florin T, Libioulle C, Louis E, McGovern D, Milla M, Montgomery G, Morley K, Mowat C, Ng A, Newman W, Ophoff R, Papi L, Palmieri O, Levine A, Lemann M, Franchimont D, Franke L, Georges M, Glas J, Glazer N, Guthery S, Haritunians T, Hayward N, Hugot J, Jobin G, Laukens D, Lawrance I, Peyrin-Biroulet L. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011; 43:246-52.

Type

Journal Paper/Review (English)

Journal

Nat Genet 2011; 43

Publication Date

Feb 6, 2011

Issn Electronic

1546-1718

Pages

246-52

Brief description/objective

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.