The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Open accessAbstract
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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Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013
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The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1133 · Cited by 2,161
Metadata
- 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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Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.