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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
- 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;
- Lagacé, Caroline;
- Scott, Regan;
- Amininejad, Leila;
- Bumpstead, Suzannah;
- Baidoo, Leonard;
- 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 SN;
- Floyd, James AB;
- Florin, Timothy;
- 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;
- Lémann, Marc;
- Levine, Arie;
- 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;
- Peyrin-Biroulet, Laurent;
- Panés, Julián;
- Phillips, Anne;
- 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;
- Steinhart, A Hillary;
- Targan, Stephan R;
- 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;
- Gazouli, Maria;
- Anagnou, Nicholas P;
- 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;
- Brant, Steven R;
- Chamaillard, Mathias;
- 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, Séverine;
- Weersma, Rinse K;
- Rioux, John D
- et al.
Published Web Location
https://doi.org/10.1038/ng.764Abstract
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.
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