The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
Open accessAbstract
Crohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations. Genome-wide association studies and subsequent meta-analyses of these two diseases as separate phenotypes have implicated previously unsuspected mechanisms, such as autophagy, in their pathogenesis and showed that some IBD loci are shared with other inflammatory diseases. Here we expand on the knowledge of relevant pathways by undertaking a meta-analysis of Crohn's disease and ulcerative colitis genome-wide association scans, followed by extensive validation of significant findings, with a combined total of more than 75,000 cases and controls. We identify 71 new associations, for a total of 163 IBD loci, that meet genome-wide significance thresholds. Most loci contribute to both phenotypes, and both directional (consistently favouring one allele over the course of human history) and balancing (favouring the retention of both alleles within populations) selection effects are evident. Many IBD loci are also implicated in other immune-mediated disorders, most notably with ankylosing spondylitis and psoriasis. We also observe considerable overlap between susceptibility loci for IBD and mycobacterial infection. Gene co-expression network analysis emphasizes this relationship, with pathways shared between host responses to mycobacteria and those predisposing to IBD.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source says what the claim attributes to it.
In the citing paper
“Population-based, genome-wide–association studies followed by subsequent meta-analysis of population-based, genome-wide–association studies and immunochip data have identified more than 160 loci linked to IBD susceptibility (Jostins et al., 2012).”
From Targeting Janus Kinases and Signal Transducer and Activator of Transcription 3 To Treat Inflammation, Fibrosis, and Cancer: Rationale, Progress, and Caution (2020) · cites this paper as Jostins et al., 2012
In the citing paper
“Examples include the role of complement in the pathogenesis of acute macular degeneration38, synaptic pruning in schizophrenia64 and autophagy in inflammatory bowel disease65.”
From A brief history of human disease genetics (2020) · cites this paper as [65]
In the citing paper
“The 71 regulators significantly overlap with genes genetically associated with inflammatory bowel disease44 (11 of 71, p<10-9).”
From Dynamic regulatory network controlling TH17 cell differentiation (2013) · cites this paper as [44]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A General Framework for Weighted Gene Co-Expression Network Analysis
Zhang, B., & Horvath, S. (2005) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1128 · Cited by 5,684
Self-citationMolodecky, N. A., Soon, I. S., Rabi, D. M., Ghali, W. A., Ferris, M., Chernoff, G., Benchimol, E. I., Panaccione, R., Ghosh, S., Barkema, H. W., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2011.10.001 · Cited by 4,833
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Genetics and pathogenesis of inflammatory bowel disease
Khor, B., Gardet, A., & Xavier, R. J. (2011) · Nature · doi:10.1038/nature10209 · Cited by 2,725
Self-citationFranke, A., McGovern, D. P. B., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., Lees, C. W., Balschun, T., Lee, J., Roberts, R., et al. (2010) · Nature Genetics · doi:10.1038/ng.717 · Cited by 2,520
Self-citationThe mystery of missing heritability: Genetic interactions create phantom heritability
Zuk, O., Hechter, E., Sunyaev, S. R., & Lander, E. S. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1119675109 · Cited by 1,542
Anderson, C., Boucher, G., Lees, C., Franke, A., D'Amato, M., Taylor, K., Lee, J., Goyette, P., Imieliński, M., Latiano, A., et al. (2011) · Nature Genetics · doi:10.1038/ng.764 · Cited by 1,361
Self-citationGenetics of gene expression and its effect on disease
Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A. S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G. B., Gunnarsdottir, S., et al. (2008) · Nature · doi:10.1038/nature06758 · Cited by 1,296
Self-citationSTAT3 Mutations in the Hyper-IgE Syndrome
Holland, S. M., DeLeo, F. R., Elloumi, H. Z., Hsu, A. P., Uzel, G., Brodsky, N. N., Freeman, A. F., Demidowich, A. P., Davis, J., Turner, M. L. C., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa073687 · Cited by 1,233
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
Minegishi, Y., Saitō, M., Tsuchiya, S., Tsuge, I., Takada, H., Hara, T., Kawamura, N., Ariga, T., Pašić, S., Stojković, O., et al. (2007) · Nature · doi:10.1038/nature06096 · Cited by 1,075
Cited by
Sorted by citations
Items 601–700 of 1,032
Polytarchou, C., Hommes, D. W., Palumbo, T., Hatziapostolou, M., Κουτσιούμπα, Μ., Κούκος, Γ., Jong, A. E. V. D. M., Oikonomopoulos, A., van Deen, W. K., Vorvis, C., et al. (2015) · Gastroenterology · doi:10.1053/j.gastro.2015.05.057 · Cited by 128
Self-citationChromatin activity at GWAS loci identifies T cell states driving complex immune diseases
Soskic, B., Cano-Gamez, E., Smyth, D. J., Rowan, W. C., Nakić, N., Esparza-Gordillo, J., Bossini‐Castillo, L., Tough, D. F., Larminie, C. G. C., Bronson, P. G., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0493-9 · Cited by 129
Inflammatory Signaling by NOD-RIPK2 Is Inhibited by Clinically Relevant Type II Kinase Inhibitors
Canning, P., Ruan, Q., Schwerd, T., Hrdinka, M., Maki, J. L., Saleh, D., Suebsuwong, C., Ray, S. S., Brennan, P. E., Cuny, G. D., et al. (2015) · Chemistry & Biology · doi:10.1016/j.chembiol.2015.07.017 · Cited by 128
Laudisi, F., Fusco, D. D., Dinallo, V., Stolfi, C., Grazia, A. D., Marafini, I., Colantoni, A., Ortenzi, A., Alteri, C., Guerrieri, F., et al. (2018) · Cellular and Molecular Gastroenterology and Hepatology · doi:10.1016/j.jcmgh.2018.09.002 · Cited by 139
Impact of Food Additives on Gut Homeostasis
Laudisi, F., Stolfi, C., & Monteleone, G. (2019) · Nutrients · doi:10.3390/nu11102334 · Cited by 132
Interrogating host immunity to predict treatment response in inflammatory bowel disease
Digby-Bell, J. L., Atreya, R. N., Monteleone, G., & Powell, N. (2019) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0228-5 · Cited by 130
Crowley, E., Warner, N. E., Pan, J., Khalouei, S., Elkadri, A. A., Fiedler, K. B., Foong, J., Turinsky, A. L., Bronte-Tinkew, D. M., Zhang, S., et al. (2020) · Gastroenterology · doi:10.1053/j.gastro.2020.02.023 · Cited by 127
Self-citationAlemany-Cosme, E., González, E. S., Moret, I., Mateos, B., Iborra, M., Nos, P., Sandoval, J., & Beltrán, B. (2021) · Antioxidants · doi:10.3390/antiox10010064 · Cited by 132
Abraham, C., Abreu, M. T., & Turner, J. R. (2022) · Gastroenterology · doi:10.1053/j.gastro.2021.12.288 · Cited by 129
Self-citationAguilar, C., Lenoir, C., Lambert, N., Bègue, B., Brousse, N., Canioni, D., Berrebi, D. D., Roy, M., Gérart, S., Chapel, H. M., et al. (2014) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2014.04.031 · Cited by 126
Molecular classification of Crohn's disease reveals two clinically relevant subtypes
Weiser, M., Simon, J. M., Kochar, B. D., Tovar, A., Israel, J. W., Robinson, A., Gipson, G. R., Schaner, M. S., Herfarth, H. H., Sartor, R. B., et al. (2016) · Gut · doi:10.1136/gutjnl-2016-312518 · Cited by 130
Self-citationThe genetic background of inflammatory bowel disease: from correlation to causality
Venema, W. T. U., Voskuil, M. D., Dijkstra, G. D. H., Weersma, R. K., & Festen, E. A. M. (2016) · The Journal of Pathology · doi:10.1002/path.4817 · Cited by 135
Self-citationForkel, M., van Tol, S., Höög, C., Michaëlsson, J., Almer, S. H., & Mjösberg, J. (2018) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjy119 · Cited by 126
Kerner, G., Neehus, A., Philippot, Q., Bohlen, J., Rinchai, D., Kerrouche, N., Puel, A., Zhang, S., Boisson‐Dupuis, S., Abel, L., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2022.100248 · Cited by 134
Autophagy and inflammatory diseases
Jones, S. A., Mills, K. H. G., & Harris, J. (2013) · Immunology and Cell Biology · doi:10.1038/icb.2012.82 · Cited by 127
Siegel, C. A., Horton, H. A., Siegel, L. S., Thompson, K. D., MacKenzie, T. A., Stewart, S. K., Rice, P. W., Stempak, J. M., Dezfoli, S., Haritunians, T., et al. (2015) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.13460 · Cited by 125
Self-citationProbiotics and prebiotics in ulcerative colitis
Derikx, L. A. A. P., Dieleman, L. A., & Hoentjen, F. (2016) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2016.02.005 · Cited by 125
McDermott, E., Ryan, E. J., Tosetto, M., Gibson, D. J., Burrage, J., Keegan, D., Byrne, K., Crowe, E., Sexton, G., Malone, K. M., et al. (2015) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjv176 · Cited by 131
Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation
Do, C., Lang, C. F., Lin, J. P., Darbary, H. K., Krupska, I., Gaba, A., Petukhova, L., Vonsattel, J., GALLAGHER, M. P., Goland, R., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.027 · Cited by 130
Genetics of inflammatory bowel disease from multifactorial to monogenic forms
Bianco, A. M. (2015) · World Journal of Gastroenterology · doi:10.3748/wjg.v21.i43.12296 · Cited by 127
Valatas, V., Kolios, G. C., & Bamias, G. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.00583 · Cited by 125
Suárez‐Fariñas, M., Tokuyama, M. A., Wei, G., Huang, R., Livanos, A. E., Jha, D., Levescot, A., Irizar, H., Kosoy, R., Cording, S., et al. (2020) · Gastroenterology · doi:10.1053/j.gastro.2020.09.029 · Cited by 126
Self-citationBiopsy and blood-based molecular biomarker of inflammation in IBD
Argmann, C., Hou, R., Ungaro, R. C., Irizar, H., Al-Taie, Z., Huang, R., Kosoy, R., Venkat, S., Song, W., Narzo, A. D., et al. (2022) · Gut · doi:10.1136/gutjnl-2021-326451 · Cited by 125
Self-citationSalem, S., Salem, D., & Gros, P. (2020) · Human Genetics · doi:10.1007/s00439-020-02154-2 · Cited by 125
Personalizing Treatment in IBD: Hype or Reality in 2020? Can We Predict Response to Anti-TNF?
Atreya, R. N., Neurath, M. F., & Siegmund, B. (2020) · Frontiers in Medicine · doi:10.3389/fmed.2020.00517 · Cited by 124
Li, X., Zhang, Z., Zabed, H. M., Yun, J., Zhang, G., & Qi, X. (2020) · Molecular Nutrition & Food Research · doi:10.1002/mnfr.202000461 · Cited by 129
Protein–protein interactions and genetic diseases: The interactome
Lage, K. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.05.028 · Cited by 125
Quantifying Missing Heritability at Known GWAS Loci
Gusev, A., Bhatia, G., Zaitlen, N., Vilhjálmsson, B. J., Diogo, D., Stahl, E. A., Gregersen, P. K., Worthington, J., Klareskog, L., Raychaudhuri, S., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003993 · Cited by 125
Self-citationUpdate on primary sclerosing cholangitis
Karlsen, T. H., & Boberg, K. M. (2013) · Journal of Hepatology · doi:10.1016/j.jhep.2013.03.015 · Cited by 123
Self-citationDhillon, S. S., Fattouh, R., Elkadri, A. A., Xu, W., Murchie, R., Walters, T. D., Guo, C., Mack, D. R., Huynh, H. Q., Baksh, S., et al. (2014) · Gastroenterology · doi:10.1053/j.gastro.2014.06.005 · Cited by 125
Self-citationImmunity to Commensal Fungi: Detente and Disease
Wheeler, M. L., Limon, J. J., & Underhill, D. M. (2017) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-052016-100342 · Cited by 124
Sayoc-Becerra, A., Krishnan, M., Fan, S., Jimenez, J. L., Hernandez, R., Gibson, K., Preciado, R., Butt, G., & McCole, D. F. (2019) · Inflammatory Bowel Diseases · doi:10.1093/ibd/izz266 · Cited by 123
Dysbiotic microbiota interactions in Crohn’s disease
Caparrós, E., Wiest, R., Scharl, M. M., Rogler, G., Gutiérrez, A., Yılmaz, B., Wawrzyniak, M., & Francés, R. (2021) · Gut Microbes · doi:10.1080/19490976.2021.1949096 · Cited by 123
Aschenbrenner, D., Quaranta, M., Banerjee, S., Ilott, N., Jansen, J., Steere, B., Chen, Y.-H., Ho, S., Cox, K., Arancibia-Cárcamo, C. V., et al. (2021) · Gut · doi:10.1136/gutjnl-2020-321731 · Cited by 123
Self-citationLu, C., Chen, J., Xu, H., Zhou, X., He, Q., Li, Y., Jiang, G., Shan, Y., Xue, B., Zhao, R., et al. (2013) · Gastroenterology · doi:10.1053/j.gastro.2013.09.006 · Cited by 132
Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk
Fischer, A., Ellinghaus, D., Nutsua, M., Hofmann, S., Montgomery, C. G., Iannuzzi, M. C., Rybicki, B. A., Petřek, M., Mrázek, F., Pabst, S., et al. (2015) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201503-0418oc · Cited by 122
Self-citationBaillie, J. K., Arner, E., Daub, C. O., de Hoon, M., Itoh, M., Kawaji, H., Lassmann, T., Carninci, P., Forrest, A. R. R., Hayashizaki, Y., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006641 · Cited by 125
Ibrahim, M. L., Klement, J. D., Lu, C., Redd, P. S., Xiao, W. L., Yang, D., Browning, D. D., Savage, N. M., Buckhaults, P., Morse, H. C., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.11.050 · Cited by 122
Targeting inflammation as cancer therapy
Wang, M., Chen, S., He, X., Yuan, Y., & Wei, X. (2024) · Journal of Hematology & Oncology · doi:10.1186/s13045-024-01528-7 · Cited by 126
Antigen-specific regulatory T-cell responses to intestinal microbiota
Russler-Germain, E. V., Rengarajan, S., & Hsieh, C.-S. (2017) · Mucosal Immunology · doi:10.1038/mi.2017.65 · Cited by 123
IgG and Fcγ Receptors in Intestinal Immunity and Inflammation
Castro‐Dopico, T., & Clatworthy, M. R. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.00805 · Cited by 128
New biologics and small molecules in inflammatory bowel disease: an update
Sabino, J., Verstockt, B., Vermeire, S., & Ferrante, M. (2019) · Therapeutic Advances in Gastroenterology · doi:10.1177/1756284819853208 · Cited by 121
Self-citationSingle-cell integration reveals metaplasia in inflammatory gut diseases
Oliver, A. J., Huang, N., Bartolomé-Casado, R., Li, R., Koplev, S., Nilsen, H. R., Moy, M. R., Çakır, B., Polański, K., Gudiño, V., et al. (2024) · Nature · doi:10.1038/s41586-024-07571-1 · Cited by 132
Chen, G., Lee, S., Brion, M., Montgomery, G. W., Wray, N. R., Radford‐Smith, G. L., & Visscher, P. M. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu174 · Cited by 121
Self-citationInflammasome activation has an important role in the development of spontaneous colitis
Zhang, J., Fu, S., Sun, S., Li, Z., & Guo, B. (2014) · Mucosal Immunology · doi:10.1038/mi.2014.1 · Cited by 122
Felice, C., Lewis, A., Armuzzi, A., Lindsay, J., & Silver, A. R. (2014) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.13008 · Cited by 120
Padua, D. M., Mahurkar‐Joshi, S., Law, I. K. M., Polytarchou, C., Vu, J. P., Pisegna, J. R., Shih, D., Iliopoulos, D., & Pothoulakis, C. (2016) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00212.2016 · Cited by 120
Pooled ChIP-Seq Links Variation in Transcription Factor Binding to Complex Disease Risk
Tehranchi, A. K., Myrthil, M., Martin, T., Hie, B. L., Golan, D., & Fraser, H. B. (2016) · Cell · doi:10.1016/j.cell.2016.03.041 · Cited by 120
Environmental risk factors for inflammatory bowel disease.
Ananthakrishnan, A. N. (2013) · Europe PMC (PubMed Central) · Cited by 119
Self-citationEnvironmental Triggers for Inflammatory Bowel Disease
Ananthakrishnan, A. N. (2012) · Current Gastroenterology Reports · doi:10.1007/s11894-012-0302-4 · Cited by 119
Self-citationGruber, L., Kisling, S., Lichti, P., Martin, F., May, S., Klingenspor, M., Lichtenegger, M., Rychlik, M., & Haller, D. (2013) · PLoS ONE · doi:10.1371/journal.pone.0071661 · Cited by 119
Siegmund, B., Feakins, R. M., Bamias, G., Ludvig, J. C., Teixeira, F. V., Rogler, G., & Scharl, M. M. (2015) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjv228 · Cited by 121
Multi-omics differentially classify disease state and treatment outcome in pediatric Crohn’s disease
Douglas, G. M., Hansen, R., Jones, C. M. A., Dunn, K. A., Comeau, A., Bielawski, J. P., Tayler, R., El-Omar, E. M., Russell, R. K., Hold, G. L., et al. (2018) · Microbiome · doi:10.1186/s40168-018-0398-3 · Cited by 124
Self-citationSands, B. E., Sandborn, W. J., Feagan, B. G., Lichtenstein, G. R., Zhang, H., Strauss, R. S., Szapary, P. O., Johanns, J., Panés, J., Vermeire, S., et al. (2018) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjy085 · Cited by 119
Self-citationManagement of inflammatory bowel disease
Wright, E. K., Ding, N. S., & Niewiadomski, O. (2018) · The Medical Journal of Australia · doi:10.5694/mja17.01001 · Cited by 121
Germline genetic polymorphisms influence tumor gene expression and immune cell infiltration
Lim, Y. W., Chen‐Harris, H., Mayba, O., Lianoglou, S., Wüster, A., Bhangale, T., Khan, Z., Mariathasan, S., Daemen, A., Reeder, J., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1804506115 · Cited by 120
Coordination of Immune-Stroma Crosstalk by IL-6 Family Cytokines
West, N. R. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.01093 · Cited by 125
Novel mechanisms and clinical trial endpoints in intestinal fibrosis*
Wang, J., Lin, S., Brown, J. M., Wagoner, D. R. V., Fiocchi, C., & Rieder, F. (2021) · Immunological Reviews · doi:10.1111/imr.12974 · Cited by 123
Yang, Y., Musco, H., Simpson, S., Zhu, Z., Wang, Y., Lin, X., Zhang, J., Taylor, B. V., Gratten, J., & Zhou, Y. (2021) · Nature Communications · doi:10.1038/s41467-021-25768-0 · Cited by 123
Standardised animal models of host microbial mutualism
Macpherson, A. J., & McCoy, K. D. (2014) · Mucosal Immunology · doi:10.1038/mi.2014.113 · Cited by 122
Mapping of Immune-Mediated Disease Genes
Ricaño-Ponce, I., & Wijmenga, C. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153450 · Cited by 121
Self-citationThe Future of Janus Kinase Inhibitors in Inflammatory Bowel Disease
Vries, L. C. S. D., Wildenberg, M. E., de Jonge, W. J., & D’Haens, G. (2017) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjx003 · Cited by 118
Genomic dissection of conserved transcriptional regulation in intestinal epithelial cells
Lickwar, C. R., Camp, J. G., Weiser, M., Cocchiaro, J. L., Kingsley, D. M., Furey, T. S., Sheikh, S. Z., & Rawls, J. F. (2017) · PLoS Biology · doi:10.1371/journal.pbio.2002054 · Cited by 124
Osaka, T., Moriyama, E., Arai, S., Date, Y., Yagi, J., Kikuchi, J., & Tsuneda, S. (2017) · Nutrients · doi:10.3390/nu9121329 · Cited by 123
Chang, D., Gao, F., Slavney, A., Ma, L., Waldman, Y. Y., Sams, A. J., Billing-Ross, P., Madar, A., Spritz, R. A., & Keinan, A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0113684 · Cited by 120
Impact of air pollution on intestinal redox lipidome and microbiome
Feng, J., Cavallero, S., Hsiai, T. K., & Li, R. (2020) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2019.12.044 · Cited by 120
Singh, V., Yeoh, B. S., Chassaing, B., Zhang, B., Saha, P., Xiao, X., Awasthi, D., Shashidharamurthy, R., Dikshit, M., Gewirtz, A., et al. (2016) · Cellular and Molecular Gastroenterology and Hepatology · doi:10.1016/j.jcmgh.2016.03.007 · Cited by 117
Self-citationREV-ERBα Regulates TH17 Cell Development and Autoimmunity
Amir, M., Chaudhari, S., Wang, R., Campbell, S., Mosure, S. A., Chopp, L. B., Lu, Q., Shang, J., Pelletier, O. B., He, Y., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.11.101 · Cited by 117
The history of genetics in inflammatory bowel disease.
Ek, W. E., D’Amato, M., & Halfvarson, J. (2014) · Europe PMC (PubMed Central) · Cited by 118
Self-citationMarenholz, I., Grosche, S., Kalb, B., Rüschendorf, F., Blümchen, K., Schlags, R., Harandi, N., Price, M., Hansen, G., Seidenberg, J., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-01220-0 · Cited by 121
Song, H., Wang, W., Shen, B., Jia, H., Hou, Z., Chen, P., & Sun, Y. (2017) · Cancer Science · doi:10.1111/cas.13497 · Cited by 119
Zhou, X. (2017) · The Annals of Applied Statistics · doi:10.1214/17-aoas1052 · Cited by 121
Navigating the complexities of drug development for inflammatory bowel disease
Honap, S., Jairath, V., Danese, S., & Peyrin‐Biroulet, L. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-00953-0 · Cited by 123
Potential Benefits of Dietary Fibre Intervention in Inflammatory Bowel Disease
Wong, C., Harris, P., & Ferguson, L. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17060919 · Cited by 116
Self-citationWells, M. F., Nemesh, J., Ghosh, S., Mitchell, J. M., Salick, M. R., Mello, C. J., Meyer, D., Pietilainen, O., Piccioni, F., Guss, E. J., et al. (2023) · Cell Stem Cell · doi:10.1016/j.stem.2023.01.010 · Cited by 116
Increased Enterococcus faecalis infection is associated with clinically active Crohn disease
Zhou, Y., Chen, H., He, H., Du, Y., Hu, J., Li, Y., Li, Y., Zhou, Y., Wang, H., Chen, Y., et al. (2016) · Medicine · doi:10.1097/md.0000000000005019 · Cited by 116
Immunoregulatory functions and the therapeutic implications of GARP-TGF-β in inflammation and cancer
Metelli, A., Salem, M. A., Wallace, C. H., Wu, B. X., Li, A., Li, X., & Li, Z. (2018) · Journal of Hematology & Oncology · doi:10.1186/s13045-018-0570-z · Cited by 120
Moustafa, A. M., Li, W., Anderson, E. L., Wong, E., Dulai, P. S., Sandborn, W. J., Biggs, W., Yooseph, S., Jones, M. B., Venter, C. J., et al. (2018) · Clinical and Translational Gastroenterology · doi:10.1038/ctg.2017.58 · Cited by 116
Inflammatory Bowel Disease: A Stressed “Gut/Feeling”
Oligschlaeger, Y., Yadati, T., Houben, T., Oliván, C. M. C., & Shiri‐Sverdlov, R. (2019) · Cells · doi:10.3390/cells8070659 · Cited by 121
DIALOGUE maps multicellular programs in tissue from single-cell or spatial transcriptomics data
Jerby‐Arnon, L., & Regev, A. (2022) · Nature Biotechnology · doi:10.1038/s41587-022-01288-0 · Cited by 119
Han, B., Lv, X., Liu, G., Li, S., Fan, J., Chen, L., Huang, Z., Lin, G., Xu, X., Huang, Z., et al. (2023) · Gut Microbes · doi:10.1080/19490976.2023.2232143 · Cited by 127
Sleep Duration Affects Risk for Ulcerative Colitis: A Prospective Cohort Study
Ananthakrishnan, A. N., Khalili, H., Konijeti, G. G., Higuchi, L. M., de Silva, P. S., Fuchs, C. S., Richter, J. M., Schernhammer, E. S., & Chan, A. T. (2014) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2014.04.021 · Cited by 115
Self-citationrSNPBase: a database for curated regulatory SNPs
Guo, L., Du, Y., Chang, S., Zhang, K., & Wang, J. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1167 · Cited by 122
Shah, R., Cope, J. L., Nagy‐Szakal, D., Dowd, S. E., Versalovic, J. A., Hollister, E. B., & Kellermayer, R. (2016) · Gut Microbes · doi:10.1080/19490976.2016.1190073 · Cited by 115
Redefining the IBDs using genome-scale molecular phenotyping
Furey, T. S., Sethupathy, P., & Sheikh, S. Z. (2019) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0118-x · Cited by 120
Detecting Polygenic Adaptation in Admixture Graphs
Racimo, F., Berg, J. J., & Pickrell, J. K. (2018) · Genetics · doi:10.1534/genetics.117.300489 · Cited by 118
Very Early-onset Inflammatory Bowel Disease
Moran, C. J., Klein, C., Muise, A. M., & Snapper, S. B. (2015) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000329 · Cited by 115
Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy
Liu, H., Irwanto, A. K., Fu, X., Yu, G., Yu, Y., Sun, Y., Wang, C., Wang, Z., Okada, Y., Low, H.-Q., et al. (2015) · Nature Genetics · doi:10.1038/ng.3212 · Cited by 122
Efficacy of the Autoimmune Protocol Diet for Inflammatory Bowel Disease
Konijeti, G. G., Kim, N., Lewis, J. D., Groven, S., Chandrasekaran, A. C., Grandhe, S., Caroline, D., Singh, E., Oliveira, G., Wang, X., et al. (2017) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000001221 · Cited by 114
Glastonbury, C. A., Couto Alves, A., El-Sayed Moustafa, J. S., & Small, K. S. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.025 · Cited by 114
Richard, M. L., Lamas, B., Liguori, G., Hoffmann, T. W., & Sokol, H. (2015) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000261 · Cited by 118
A Deficiency in the Autophagy Gene Atg16L1 Enhances Resistance to Enteric Bacterial Infection
Marchiando, A. M., Ramanan, D., Ding, Y., Gomez, L. E., Hubbard-Lucey, V. M., Maurer, K., Wang, C., Ziel, J. W., van Rooijen, N., Núñez, G., et al. (2013) · Cell Host & Microbe · doi:10.1016/j.chom.2013.07.013 · Cited by 120
Li, Q., Lee, C. H., Peters, L. A., Mastropaolo, L. A., Thoeni, C. E., Elkadri, A. A., Schwerd, T., Zhu, J., Zhang, B., Zhao, Y., et al. (2016) · Gastroenterology · doi:10.1053/j.gastro.2016.01.031 · Cited by 116
Self-citationKasela, S., Kisand, K., Tserel, L., Kaleviste, E., Remm, A., Fischer, K., Esko, T., Westra, H.-J., Fairfax, B. P., Makino, S., et al. (2017) · PLOS Genetics · doi:10.1371/journal.pgen.1006643 · Cited by 113
" Familial and ethnic risk in inflammatory bowel disease"
Santos, M. P. C. (2017) · Annals of Gastroenterology · doi:10.20524/aog.2017.0208 · Cited by 113
Luccia, B. D., Gilfillan, S., Cella, M., Colonna, M., & Huang, S. C. (2019) · The Journal of Experimental Medicine · doi:10.1084/jem.20180549 · Cited by 117
Combinatorial Effects of Diet and Genetics on Inflammatory Bowel Disease Pathogenesis
Dixon, L. J., Kabi, A., Nickerson, K. P., & McDonald, C. (2015) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000289 · Cited by 113
Tissue-infiltrating neutrophils represent the main source of IL-23 in the colon of patients with IBD
Kvedaraite, E., Lourda, M., Ideström, M., Chen, P., Olsson‐Åkefeldt, S., Forkel, M., Gavhed, D., Lindforss, U., Mjösberg, J., Henter, J., et al. (2015) · Gut · doi:10.1136/gutjnl-2014-309014 · Cited by 115
Carbohydrate Intake in the Etiology of Crohnʼs Disease and Ulcerative Colitis
Chan, S. S. M., Luben, R., van Schaik, F. D. M., Oldenburg, B., Bueno-de-Mesquita, H. B., Hallmans, G., Karling, P., Lindgren, S. C., Grip, O., Key, T. J., et al. (2014) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000168 · Cited by 118
Self-citationMicrobial imbalance and intestinal pathologies: connections and contributions
Yang, Y., & Jobin, C. (2014) · Disease Models & Mechanisms · doi:10.1242/dmm.016428 · Cited by 118
Metadata
- Authors
- The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., Anderson, C. A., Essers, J., Mitrovic, M., Ning, K., Cleynen, I., Theatre, E., Spain, S. L., Raychaudhuri, S., Goyette, P., Wei, Z., Abraham, C., Achkar, J.-P., Ahmad, T., Amininejad, L., Ananthakrishnan, A. N., Andersen, V., Andrews, J. M., Baidoo, L., Balschun, T., Bampton, P. A., Bitton, A., Boucher, G., Brand, S., Büning, C., Cohain, A., Cichon, S., D’Amato, M., De Jong, D., Devaney, K. L., Dubinsky, M., Edwards, C., Ellinghaus, D., Ferguson, L. R., Franchimont, D., Fransen, K., Gearry, R., Georges, M., Gieger, C., Glas, J., Haritunians, T., Hart, A., Hawkey, C., Hedl, M., Hu, X., Karlsen, T. H., Kupcinskas, L., Kugathasan, S., Latiano, A., Laukens, D., Lawrance, I. C., Lees, C. W., Louis, E., Mahy, G., Mansfield, J., Morgan, A. R., Mowat, C., Newman, W., Palmieri, O., Ponsioen, C. Y., Potocnik, U., Prescott, N. J., Regueiro, M., Rotter, J. I., Russell, R. K., Sanderson, J. D., Sans, M., Satsangi, J., Schreiber, S., Simms, L. A., Sventoraityte, J., Targan, S. R., Taylor, K. D., Tremelling, M., Verspaget, H. W., De Vos, M., Wijmenga, C., Wilson, D. C., Winkelmann, J., Xavier, R. J., Zeissig, S., Zhang, B., Zhang, C. K., Zhao, H., Silverberg, M. S., Annese, V., Hakonarson, H., Brant, S. R., Radford-Smith, G., Mathew, C. G., Rioux, J. D., Schadt, E. E., Daly, M. J., Franke, A., Parkes, M., Vermeire, S., Barrett, J. C., & Cho, J. H.
- Affiliations
- Wellcome Sanger Institute (GB)
- Broad Institute (US)
- University Medical Center Groningen (NL)
- University of Pittsburgh (US)
- Cedars-Sinai Medical Center (US)
- Yale University (US)
- University of Cambridge (GB)
- Harvard University (US)
- KU Leuven (BE)
- Guy's Hospital (GB)
- Montreal Heart Institute (CA)
- New Jersey Institute of Technology (US)
- Cleveland Clinic (US)
- Peninsula College of Medicine and Dentistry (GB)
- Université Libre de Bruxelles (BE)
- Regionshospitalet Viborg (DK)
- Royal Adelaide Hospital (AU)
- Christian-Albrechts-Universität zu Kiel (DE)
- Flinders University (AU)
- McGill University Health Centre (CA)
- Ludwig-Maximilians-Universität München (DE)
- Charité – Universitätsmedizin Berlin (DE)
- Icahn School of Medicine at Mount Sinai (US)
- University Hospital Bonn (DE)
- Karolinska Institutet (SE)
- Torbay Hospital (GB)
- University of Auckland (NZ)
- Christchurch Hospital (NZ)
- University of Liège (BE)
- Helmholtz Munich (DE)
- St Mark's Hospital (GB)
- Queen's Medical Centre (GB)
- Brigham and Women's Hospital (US)
- Oslo University Hospital (NO)
- Emory University (US)
- Casa Sollievo della Sofferenza (IT)
- Ghent University Hospital (BE)
- The University of Western Australia (AU)
- Western General Hospital (GB)
- Townsville Hospital (AU)
- Newcastle University (GB)
- Ninewells Hospital (GB)
- Manchester Academic Health Science Centre (GB)
- Amsterdam UMC Location University of Amsterdam (NL)
- Royal Hospital for Children (GB)
- St Thomas' Hospital (GB)
- Hospital Clínic de Barcelona (ES)
- QIMR Berghofer Medical Research Institute (AU)
- F. Widjaja Inflammatory Bowel Disease Institute (US)
- Norfolk and Norwich University Hospital (GB)
- Leiden University Medical Center (NL)
- Institut für Humangenetik (DE)
- Mount Sinai Hospital (CA)
- Children's Hospital of Philadelphia (US)
- Johns Hopkins University (US)
- Corresponding author
- Cho, Judy H
- ORCID
- Ripke, Stephan
- Weersma, Rinse K.
- Duerr, Richard H.
- McGovern, Dermot P.
- Hui, Ken Y.
- Lee, James C.
- Sharma, Yashoda
- Anderson, Carl A.
- Ning, Kaida
- Cleynen, Isabelle
- Spain, Sarah L.
- Raychaudhuri, Soumya
- Wei, Zhi
- Abraham, Clara
- Achkar, Jean-Paul
- Ahmad, Tariq
- Amininejad, Leila
- Ananthakrishnan, Ashwin N.
- Andersen, Vibeke
- Andrews, Jane M.
- Baidoo, Leonard
- Bampton, Peter A.
- Bitton, Alain
- Boucher, Gabrielle
- Brand, Stephan
- Cohain, Ariella
- Cichon, Sven
- D’Amato, Mauro
- Dubinsky, Marla
- Edwards, Cathryn
- Ellinghaus, David
- Ferguson, Lynnette R.
- Franchimont, Denis
- Gearry, Richard
- Georges, Michel
- Gieger, Christian
- Haritunians, Talin
- Hart, Ailsa
- Hu, Xinli
- Karlsen, Tom H.
- Kugathasan, Subra
- Latiano, Anna
- Laukens, Debby
- Lees, Charlie W.
- Louis, Edouard
- Mansfield, John
- Mowat, Craig
- Newman, William
- Palmieri, Orazio
- Ponsioen, Cyriel Y.
- Prescott, Natalie J.
- Regueiro, Miguel
- Rotter, Jerome I.
- Russell, Richard K.
- Sanderson, Jeremy D.
- Sans, Miquel
- Schreiber, Stefan
- Simms, Lisa A.
- Targan, Stephan R.
- Taylor, Kent D.
- Verspaget, Hein W.
- Wijmenga, Cisca
- Winkelmann, Juliane
- Xavier, Ramnik J.
- Zeissig, Sebastian
- Zhang, Bin
- Zhao, Hongyu
- Silverberg, Mark S.
- Annese, Vito
- Hakonarson, Hakon
- Brant, Steven R.
- Mathew, Christopher G.
- Rioux, John D.
- Schadt, Eric E.
- Daly, Mark J.
- Parkes, Miles
- Barrett, Jeffrey C.
- Cho, Judy H
- Venue
- Nature
- Published
- 2012-10-31
- Volume
- 491
- Issue
- 7422
- Pages
- 119-124
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3491803
- OpenAlex
- W2143625465
- Cited by
- 4,722
- References
- 30
- Citations by year
- 2026: 169 · 2025: 221 · 2024: 303 · 2023: 296 · 2022: 314 · 2021: 345 · 2020: 360 · 2019: 384 · 2018: 374 · 2017: 404 · 2016: 444 · 2015: 422 · 2014: 424 · 2013: 247 · 2012: 13
- FWCI
- 43.39
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- ResearchOnline at James Cook University (James Cook University) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Lithuanian University of Health Sciences (submittedVersion)
- Rutgers University Community Repository (Rutgers University) (submittedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- CLOK (University of Central Lancashire) (submittedVersion)
- Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) (submittedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Document Server@UHasselt (UHasselt) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Figshare (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Open Repository and Bibliography (University of Liège) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Crohn's and Colitis Foundation of America (DK062422)
- Leona M. and Harry B. Helmsley Charitable Trust
- Wellcome Trust (085475/Z/08/Z, 068545/Z/02), 085475, G0000934, 083948/Z/07/Z, 068545, 089120, 090532, 085475/B/08/Z, 098051)
- Crohn's and Colitis Foundation
- Cedars-Sinai Medical Center
- National Institute for Health and Care Research (NF-SI-0508-10299, NF-SI-0611-10219)
- British Heart Foundation (G0000934)
- Diabetes UK
- King's College London
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Fonds De La Recherche Scientifique - FNRS
- Fonds Wetenschappelijk Onderzoek
- Ministero della Salute
- Örebro Universitet
- Crohn's and Colitis UK (M11-1)
- Karolinska Institutet
- Universitetssjukhuset Örebro
- Svenska Läkaresällskapet
- Exzellenzclusters Entzündungsforschung
- Versus Arthritis (18475)
- National Institutes of Health (G0000934, UL1TR000124, UL1TR000005, 068545/Z/02, M01-RR00425, DK062429, TR000124, RR00425, DK-063491, DK 043351, PO1DK046763)
- U.S. Public Health Service (UL1 TR000124, DK062413, PO1DK046763)
- Inflammatory Bowel and Immunobiology Research Institute
- Medical Research Council (098051, 068545/Z/02, G0000934)
- National Health and Medical Research Council (G0000934)
- Helmholtz Zentrum München
- Münchner Zentrum für Gesundheitswissenschaften
- National Human Genome Research Institute (DK062429, DK062422)
- National Cancer Institute (CA141743, R01CA141743)
- National Institute of General Medical Sciences (T32-GM07205, T32GM007205)
- National Institute of Allergy and Infectious Diseases (AI 062773, R01AI062773)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK076984, DK063491, DK-06-2423, (DK043351, R01DK083756, P01DK046763, DK062429, DK062413, DK062420, R01DK055731, R21DK084554, R03DK076984, DK062429-S1, DK062418, DK 83756, DK062431, DK062422, K23DK097142, DK062432, U01DK062418, DK084554, U01DK062420, M01-RR00425, U01DK062429, U24DK062429, U01DK062413, U01DK062422, P30DK063491, U01DK062432, P30DK043351, U01DK062431, U01DK062423)
- National Institute of Child Health and Human Development
- National Center for Research Resources (M01RR000425, M01-RR00425)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Gastroenterology › Inflammatory Bowel Disease
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gut microbiota and health
- Keywords
- inflammatory bowel disease, Crohn's disease, ulcerative colitis, host-microbe interactions, mycobacterial infection, immune-mediated diseases, ankylosing spondylitis, psoriasis, genetic susceptibility loci, balancing selection, directional selection, gene co-expression network
- MeSH terms
- Colitis, Ulcerative, Crohn Disease, Haplotypes, Humans, Mycobacterium, Mycobacterium Infections, Mycobacterium tuberculosis, Phenotype, Reproducibility of Results, Inflammatory Bowel Diseases, Genome, Human, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Host-Pathogen Interactions, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
