Journal
NATURE GENETICS
Volume 43, Issue 3, Pages 246-U94Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.764
Keywords
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Categories
Funding
- German Ministry of Education and Research through the National Genome Research Network
- Italian Group for IBD
- Italian Society for Paediatric Gastroenterology, Hepatology and Nutrition
- Royal Brisbane and Women's Hospital Foundation
- University of Queensland
- National Health and Medical Research Council, Australia
- European Community
- National Association for Colitis and Crohn's disease
- Medical Research Council UK
- Peninsular College of Medicine and Dentistry, Exeter
- Wellcome Trust [083948/Z/07/Z, WT091745/Z/10/Z, WT089120/Z/09/Z]
- Crohn's and Colitis Foundation of America
- US National Institutes of Health (NIH)/NIDDK [DK064869]
- National Center for Research Resources (NCRR) [M01-RR00425]
- NIH/NIDDK [P01-DK046763, DK 063491]
- Cedars-Sinai Medical Center
- Deutsche Forschungsgemeinschaft (DFG) [BR 1912/5-1]
- Else Kroner-Fresenius-Stiftung [P50/05/EKMS05/62]
- Programme Hospitalier de Recherche Clinique
- Netherlands Organization for Scientific Research (NWO) [90.700.281, 918.66.620]
- Celiac Disease Consortium [BSIK03009]
- Prinses Beatrix Fonds
- Adessium Foundation
- Amyotrophic Lateral Sclerosis Association
- Netherlands Genomics Initiative [93519031]
- NWO (ZonMW) [916.10.135]
- National Institute for Health Research (NIHR) Biomedical Research Centre
- Helmsley Foundation
- Primary Children's Medical Center Foundation
- [DK062431]
- [DK062422]
- [DK062420]
- [DK062432]
- [DK062423]
- [DK062413]
- [DK076984]
- [DK084554]
- [DK062429]
- [DK069513]
- [DK83756]
- [AI062773]
- [DK043351]
- MRC [G1002033, G0600329, G0800675, G0800759] Funding Source: UKRI
- Chief Scientist Office [CZB/4/540] Funding Source: researchfish
- Crohn's and Colitis UK [M11-1] Funding Source: researchfish
- Medical Research Council [G0800759, G1002033, G0600329, G0800675] Funding Source: researchfish
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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 x 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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