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

Open access
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, 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·2011·Nature Genetics

Abstract

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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Authors
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.
Venue
Nature Genetics
Published
2011-02-06
Volume
43
Issue
3
Pages
246-252
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W1980725116
Cited by
1,320
References
5
FWCI
92.82
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. https://app.cochat.ai/papers/10.1038/ng.764
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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., . . . Rioux, J. D. (2011). Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics. https://doi.org/10.1038/ng.764

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.