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

Genome-wide association studies (GWAS) and candidate gene studies in ulcerative colitis (UC) have identified 18 susceptibility loci. We conducted a meta-analysis of 6 UC GWAS, comprising 6,687 cases and 19,718 controls, and followed-up the top association signals in 9,628 cases and 12,917 controls....

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Detalles Bibliográficos
Autores principales: 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 S.N., Floyd, James A.B., Florin, Tim, 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, 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.
Formato: Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084597/
https://www.ncbi.nlm.nih.gov/pubmed/21297633
http://dx.doi.org/10.1038/ng.764
Descripción
Sumario:Genome-wide association studies (GWAS) and candidate gene studies in ulcerative colitis (UC) have identified 18 susceptibility loci. We conducted a meta-analysis of 6 UC GWAS, 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 UC associated loci to 47. After annotating associated regions using GRAIL, eQTL data and correlations with non-synonymous SNPs, we identified many candidate genes providing potentially important insights into disease pathogenesis, including IL1R2, IL8RA/B, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease (IBD) risk loci is now 99, including a minimum of 28 shared association signals between Crohn’s disease (CD) and UC.

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