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Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
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We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European ancestry, we identified 244 independent multidisease signals, including 27 new genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multidisease signals with expression data sets from human, rat and mouse together with epigenetic and expressed enhancer profiles. The comorbidities among the five immune diseases were best explained by biological pleiotropy rather than heterogeneity (a subgroup of cases genetically identical to those with another disease, possibly owing to diagnostic misclassification, molecular subtypes or excessive comorbidity). In particular, the strong comorbidity between primary sclerosing cholangitis and inflammatory bowel disease is likely the result of a unique disease, which is genetically distinct from classical inflammatory bowel disease phenotypes.
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Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
An integrated map of genetic variation from 1,092 human genomes
The 1000 Genomes Project Consortium (2012) · Nature · doi:10.1038/nature11632 · Cited by 7,711
Self-citationSIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
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., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722
Self-citationA second generation human haplotype map of over 3.1 million SNPs
The International HapMap Consortium (2007) · Nature · doi:10.1038/nature06258 · Cited by 4,438
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
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Osgood, J. A., Brown, A., Burnham, K. L., Mielczarek, O., Migliorini, G., Tay, C., Zhang, P., Palmer, M. H., Davies, B. M., Cowley, S. A., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-18077-9 · Cited by 1
Li, Y. N., Zhang, J., Yin, Z. J., Zhou, Z., Huang, B., Mahmood, K., Colville, D. J., Barit, D., Auwardt, R. B., Fassett, R. G., et al. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2025.1647695 · Cited by 1
Aiton, E., McBride, N., Clayton, G., Soares, A. G., Bond, T. A., Yang, Q., Chatzigeorgiou, C., West, J., Faber, B. G., Birchenall, K., et al. (2026) · BMC Medicine · doi:10.1186/s12916-026-04797-w · Cited by 3
Witkam, W. C. A. M., Gregoor, A. M. S., van Straalen, K. R., Adams, H. H. H., Nijsten, T. E. C., Pardo, L. M., & Lamballais, S. (2026) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2026.03.041 · Cited by 1
Orlandi, G., Overi, D., Tinco, R. D., Pisciotta, A., Bertani, G., Biasi, S. D., Leone, S., Cardinale, V., Franchitto, M., Miglietta, S., et al. (2026) · JHEP Reports · doi:10.1016/j.jhepr.2026.101903 · Cited by 1
Zhao, R., Han, M., Zhang, B., Mm, M., Fan, K., Li, J., Sun, J., & Zhou, X. (2026) · Life · doi:10.3390/life16060950 · Cited by 1
Владимировна, С. А., Bushueva, O. Y., Freydin, M., Bogomazov, A. D., Puchkov, V., & Polonikov, A. (2026) · Frontiers in Bioscience-Scholar · doi:10.31083/fbs46479 · Cited by 1
Novel insights from large cross-disease study
Shipman, L. (2016) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2016.50 · Cited by 1
Genetics of Primary Sclerosing Cholangitis
Karlsen, T. H., & Hirschfield, G. M. (2016) · Springer eBooks · doi:10.1007/978-3-319-40908-5_8 · Cited by 2
Self-citationHuang, W., Chen, Q., Zhao, J., Ma, W., Zhang, L., Yao, S., Qing, Z., & Zhi, L. (2020) · Journal of Thrombosis and Thrombolysis · doi:10.1007/s11239-020-02216-2 · Cited by 1
Biomarkers in chronic inflammatory bowel disease - present and future
Atanassova, A. (2020) · Varna Medical Forum · doi:10.14748/vmf.v9i2.6736 · Cited by 1
Managing Inflammatory Bowel Disease in Spondyloarthritis
Fakih, O., & Service de Rhumatologie, C. D. B. (2023) · touchREVIEWS in RMD · doi:10.17925/rmd.2023.2.1.7 · Cited by 1
Chong, A. Y.-Y., Brenner, N., Jimenez-Kaufmann, A., Cortés, A., Hill, M., Littlejohns, T. J., Gilchrist, J. J., Fairfax, B. P., Knight, J. C., Hodel, F., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.12.013 · Cited by 1
He, Y., Guo, R., Yang, L., Li, L., Zhang, T., Wang, B., & Huang, Y. (2024) · Chinese Chemical Letters · doi:10.1016/j.cclet.2024.110778 · Cited by 1
Fast, Present and Future of the Concept of Spondyloarthritis
Braun, J. (2025) · Current Rheumatology Reports · doi:10.1007/s11926-024-01179-0 · Cited by 1
Zhao, W., Wang, K., Chen, H., Xu, J., Wen, L., Wu, Y. H., Chen, W., Liu, H., Liu, Y., Zhang, J., et al. (2025) · Bioengineering & Translational Medicine · doi:10.1002/btm2.70047 · Cited by 1
Lin, L., Gong, Z., Yin, G., Lu, G., & Peng, J. (2026) · BMC Pediatrics · doi:10.1186/s12887-026-06627-7 · Cited by 1
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Sangha, S., & Bowlus, C. L. (2008) · Humana Press eBooks · doi:10.1007/978-1-60327-285-8_56 · Cited by 1
Silverberg, M. S., & O’Donnell, S. (2017) · Clinical gastroenterology · doi:10.1007/978-3-319-53763-4_3 · Cited by 1
Immunological Basis of Inflammatory Arthritides
Kalliolias, G. D., & Skokos, D. (2019) · Springer eBooks · doi:10.1007/978-3-030-23022-7_1 · Cited by 1
Devaprasad, A., Radstake, T. R. D. J., & Pandit, A. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2019.12.12.874321 · Cited by 1
Spondyloarthropathies and Gut Microbiota
Soleimanifar, N., & Assadiasl, S. (2021) · Springer eBooks · doi:10.1007/978-981-16-4733-8_6 · Cited by 1
Primary Sclerosing Cholangitis
Bowlus, C. L. (2020) · Springer eBooks · doi:10.1007/978-3-030-51709-0_25 · Cited by 1
Microorganisms in the Pathogenesis and Management of Spondyloarthritis
Mukhatayev, Z., Sharip, A., Nurgozhina, A., Chunikhina, D., Poddighe, D., Ainabekova, B. A., Kushugulova, A. R., & Kunz, J. (2022) · Springer eBooks · doi:10.1007/978-981-19-1946-6_17 · Cited by 1
HGF Activator ( HGFA ) and its Inhibitors HAI ‐1 and HAI ‐2: Key Players in Tissue Repair and Cancer
Kataoka, H., & Shimomura, T. (2018) · doi:10.1002/9781119300229.ch3 · Cited by 1
Wittig, M., Schmöhl, M., Koch, S., Ziemann, M., Görg, S., Lange, V., Jacob, F., Forster, M., & Franke, A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.25.087627 · Cited by 1
Self-citationLiu, N., Sadlon, T. J., Wong, Y. Y., Pederson, S., Breen, J., & Barry, S. C. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.04.279554 · Cited by 1
Narasimhan, R. L., Throm, A. A., Koshy, J. J., Saldanha, K. M. R., Chandranpillai, H., Lal, R. D., Kumravat, M., M, A. K. K., Batra, A., Zhong, F., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.18.304071 · Cited by 1
Karlsen, T. H., & Boberg, K. M. (2018) · Wiley eBooks · doi:10.1002/9781119237662.ch18 · Cited by 1
Self-citationShared Genetic Architecture Contributes to Risk of Major Cardiovascular DiseasesPreprint
Pauklin, S., Qiao, J., Cai, L., Chang, M., Wang, C., Zhao, R., Song, S., Tan, N., He, P., Jiang, L., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-3261702/v1 · Cited by 1
Rahimov, F., Ghosh, S., Petiwala, S. M., Schmidt, M., Nyamugenda, E., Tam, J. W., Verduzco, D., Singh, S., Avram, V., Modi, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.04.560902 · Cited by 1
Taghavi, S. A., Safarpour, A. R., Ghahramani, S., Moghadam, S. M., Shahramian, I., Sivandzadeh, G. R., Nikeghbalian, S., Tahani, M., Saeian, S., & Malek‐Hosseini, S. A. (2024) · Experimental and Clinical Transplantation · doi:10.6002/ect.2024.0085 · Cited by 1
Brown, M. A., Li, Z., Wu, X., Harvey, N. C., Garrido‐Mesa, J., Wang, X., Xu, Z., Wang, G., Marzo‐Ortega, H., McGonagle, D. G., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-6917334/v1 · Cited by 1
Self-citationEpigenomics of Intestinal Disease
Kelly, D. R., & Alenghat, T. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803239-8.00015-6
Genetic variation of tight junction structures in intestinal inflammation
Norén, E. (2016) · Figshare
Klinische Genetik der Gallenwegserkrankungen
Reichert, M., Lammert, F., & Jüngst, C. (2016) · Die Gastroenterologie · doi:10.1007/s11377-016-0123-3
Primary Sclerosing Cholangitis (PSC): Current Concepts in Biology and Strategies for New Therapy
Trivedi, P. J., & Karlsen, T. H. (2017) · Springer eBooks · doi:10.1007/978-3-319-50168-0_9
Self-citationPrimary Sclerosing Cholangitis from Childhood to Adult Age : Risk Factors, Monitoring and Outcome
Tenca, A. (2017) · Työväentutkimus Vuosikirja
Genetik des Morbus Crohn und der Colitis ulcerosa
Degenhardt, F. C., & Franke, A. (2018) · Wiener klinisches Magazin · doi:10.1007/s00740-017-0211-0
Self-citationAbraham, S., Barton, A. C., Eder, L., Lim, A. K. P., McGonagle, D. G., McHugh, N. J., Pennington, S. R., Sengupta, R., Siebert, S., Bowness, P., et al. (2018) · Seminars in Arthritis and Rheumatism · doi:10.1016/j.semarthrit.2018.10.008
Novel Insights in Ankylosing Spondylitis Biology: Mouse and Human Studies
Lin, A. (2018) · TSpace (University of Toronto)
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Jones, C. M. A. (2018) · DalSpace (Dalhousie University)
Primary Biliary Cirrhosis, Primary Sclerosing Cholangitis, and Autoimmune Hepatitis
González‐Serna, D., Kerick, M., & Martin, J. J. (2019) · Rare diseases of the immune system · doi:10.1007/978-3-030-03934-9_9
Aschenbrenner, D., Quaranta, M., Banerjee, S., Ilott, N. E., Jansen, J. E., Steere, B. A., Chen, Y., Ho, S., Cox, K. L., Oxford IBD Cohort Investigators, et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/719492
Neues zur Pathophysiologie der Spondyloarthritis
Syrbe, U. (2019) · Aktuelle Rheumatologie · doi:10.1055/a-0982-2732
IBD Genomic Risk Loci and Overlap with Other Inflammatory Diseases
Hadizadeh, F., Lees, C. W., Labbé, C., Rioux, J. D., Parkes, M., Zhernakova, A., Franke, A., Hedin, C. R. H., & D’Amato, M. (2019) · Springer eBooks · doi:10.1007/978-3-030-28703-0_5 · Cited by 1
Self-citationGenetics and Aetiology of Atopic Dermatitis
Rodríguez, E., & Weidinger, S. (2019) · Wiley eBooks · doi:10.1002/9781119142812.ch14
Self-citationClinical Genetics of Cholangiopathies
Reichert, M., & Lammert, F. (2020) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0028667
Genetics and Risk of Autoimmune Liver Diseases
Mells, G. F. (2020) · Wiley eBooks · doi:10.1002/9781119532637.ch3
Joint Development and Genetic Joint Diseases
Kim, S., Macfarlane, E., Seibel, M. J., & Zhou, H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.62216-x
Épigénétique de la spondyloarthrite
Cherqaoui, B., Crémazy, F. G. E., Hue, C., Garchon, H., Bréban, M., & Costantino, F. (2020) · Revue du Rhumatisme · doi:10.1016/j.rhum.2020.11.004
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Balistreri, W. F., & Lam, S. (2021) · Cambridge University Press eBooks · doi:10.1017/9781108918978.021
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Schneider, C. V., & Strnad, P. (2021) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.16246
Timasheva, Y., Насибуллин, Т. Р., Tuktarova, I. A., Эрдман, В. В., Galiullin, T. R., Заплахова, О. В., Бахтиярова, К. З., & Mustafina, O. E. (2021) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-021-01074-6
Ali, A. H., & Carey, E. J. (2021) · Springer eBooks · doi:10.1007/978-3-030-70936-5_20
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Kho, P. F. (2021) · Queensland University of Technology · doi:10.5204/thesis.eprints.211383
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Mihai, C. (2021) · Kompass Autoimmun · doi:10.1159/000518224
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Whyte, J. (2021) · Queensland University of Technology · doi:10.5204/thesis.eprints.211291
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Huang, X. (2021) · Queensland University of Technology · doi:10.5204/thesis.eprints.213839
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Syrbe, U. (2021) · Osteologie/Osteology · doi:10.1055/a-1618-4717
Mellins, E. (2021) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.731978937.793582462
Ortiz‐Fernández, L., & González‐Escribano, M. F. (2019) · Rare diseases of the immune system · doi:10.1007/978-3-030-03934-9_3
Epigenomics of intestinal disease
Hashimoto‐Hill, S., Kelly, D. R., & Alenghat, T. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823928-5.00018-9
A comparison of the genes and genesets identified by EWAS and GWAS of fourteen complex traitsPreprint
Battram, T., Gaunt, T. R., Relton, C., Timpson, N., & Hemani, G. (2022) · medRxiv · doi:10.1101/2022.03.25.22272928 · Cited by 18
Liu, N., Sadlon, T. J., Wong, Y. Y., Pederson, S., Breen, J., & Barry, S. C. (2021) · Research Square · doi:10.21203/rs.3.rs-1175572/v1
Zhang, Q., Wang, X., Zheng, J., Lü, Q., Li, R., Jia, X., & Gu, M. (2022) · SSRN Electronic Journal · doi:10.2139/ssrn.4345554
Jing, S., Zhu, L., Yang, X. F., Qi, M., Chen, L., Wang, X., & Ni, L. (2022) · Research Square · doi:10.21203/rs.3.rs-1619332/v1
Ruyssen‐Witrand, A. (2018) · Elsevier eBooks · doi:10.1016/b978-2-294-74832-5.00037-3
Bhuyan, Z. A., Maradana, M. R., Rahman, M. A., Mehdi, A. M., Bergot, A., Simone, D., Hanson, A., Nel, H. J., Garrido‐Mesa, J., El-Kurdi, M., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.07.28.501834
Self-citationTopaloudi, A., Jain, P., Martinez, M. B., Bryant, J. K., Reynolds, G., Petros Drineas, B., & Paschou, P. (2022) · medRxiv · doi:10.1101/2022.10.16.22281127
A frequent ancestral NFKB1 variant predicts risk of infection or allergyPreprint
Chong, A., Brenner, N., Jiménez-Kaufmann, A., Cortes, A., Hill, M., Littlejohns, T., Gilchrist, J., Fairfax, B., Knight, J., Hodel, F., et al. (2022) · medRxiv · doi:10.1101/2022.11.24.22282707
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Al-Ruweidi, M. K. A. A., Khater, N., Alkaabi, H. R., Hasan, M., & Yalcin, H. C. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.106184
Sidartha, I. D. M. W., Kambayana, G., & Kurniari, P. K. (2022) · International Journal of Research and Review · doi:10.52403/ijrr.20221220
López-Bernal, C. A., García-Galicia, A., Quezada-Juárez, F. J., Rojas-Illañes, M. F., Rubio-Martínez, B., Montiel-Jarquín, Á. J., Jiménez-Luna, I., & Loría-Castellanos, J. (2022) · Revista de la Facultad de Medicina Humana · doi:10.25176/rfmh.v22i4.4995
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Su, Y. B., Dong, Y., He, Y., Ding, R., Cheng, P.-F., He, X., Ye, D., & Wang, J. (2023) · doi:10.2196/preprints.50424
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Powell, G., Simon, M. M., Pulit, S. L., Mallon, A., & Lindgren, C. M. (2023) · BMC Genomics · doi:10.1186/s12864-023-09637-2
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Roda, G., & Longhi, E. V. (2023) · Springer eBooks · doi:10.1007/978-3-031-31307-3_19
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Liu, N., Sadlon, T. J., Wong, Y. Y., Pederson, S., Breen, J., & Barry, S. C. (2022) · Figshare · doi:10.6084/m9.figshare.20206409
Li, D., Cao, R., Dong, W., Cheng, M., Pan, X., Hu, Z., & Hao, J. (2023) · Figshare · doi:10.6084/m9.figshare.23167709
Liu, N., Sadlon, T. J., Wong, Y. Y., Pederson, S., Breen, J., & Barry, S. C. (2022) · Figshare · doi:10.6084/m9.figshare.20206406
Liu, N., Sadlon, T. J., Wong, Y. Y., Pederson, S., Breen, J., & Barry, S. C. (2022) · Figshare · doi:10.6084/m9.figshare.20206403
Naghavi, N. H., Kerfoot, S. M., & Shooshtari, P. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.04.24.591013
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(2024) · Frontiers research topics · doi:10.3389/978-2-8325-4928-5
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Leighton, J., Jones, D. E., Dyson, J. K., & Cordell, H. J. (2024) · BMC Medical Genomics · doi:10.1186/s12920-024-01927-2
Yang, Y., Zheng, X., Yang, K., Zhong, Y., Cai, J., Bi, Y., Zhong, H., Tang, B., Lu, C., & Chen, H. (2024) · SSRN Electronic Journal · doi:10.2139/ssrn.4883994
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Krause‐Kyora, B., da Silva, N. A., Kaplan, E., Kolbe, D., Wohlers, I., Busch, H. S., Ellinghaus, D., Caliebe, A., Sezgın, E., Nebel, A., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.08.06.606840
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Baird, T., & Sansom, S. N. (2025) · Transplantation · doi:10.1097/tp.0000000000005378
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Metadata
- Authors
- The International IBD Genetics Consortium (IIBDGC), Ellinghaus, D., International Genetics of Ankylosing Spondylitis Consortium (IGAS), International PSC Study Group (IPSCSG), Genetic Analysis of Psoriasis Consortium (GAPC), Psoriasis Association Genetics Extension (PAGE), Jostins, L., Spain, S. L., Cortes, A., Bethune, J., Han, B., Park, Y. R., Raychaudhuri, S., Pouget, J. G., Hübenthal, M., Folseraas, T., Wang, Y., Esko, T., Metspalu, A., Westra, H.-J., Franke, L., Pers, T. H., Weersma, R. K., Collij, V., D'Amato, M., Halfvarson, J., Jensen, A. B., Lieb, W., Degenhardt, F., Forstner, A. J., Hofmann, A., Schreiber, S., Mrowietz, U., Juran, B. D., Lazaridis, K. N., Brunak, S., Dale, A. M., Trembath, R. C., Weidinger, S., Weichenthal, M., Ellinghaus, E., Elder, J. T., Barker, J. N. W. N., Andreassen, O. A., McGovern, D. P., Karlsen, T. H., Barrett, J. C., Parkes, M., Brown, M. A., & Franke, A.
- Affiliations
- Christian-Albrechts-Universität zu Kiel (DE)
- Wellcome Sanger Institute (GB)
- Centre for Human Genetics (GB)
- Asan Medical Center (KR)
- Broad Institute (US)
- Centre for Addiction and Mental Health (CA)
- Oslo University Hospital (NO)
- Boston Children's Hospital (US)
- Brigham and Women's Hospital (US)
- Statens Serum Institut (DK)
- University Medical Center Groningen (NL)
- Ikerbasque (ES)
- University of Copenhagen (DK)
- University of Bonn (DE)
- Mayo Clinic (US)
- King's College London (GB)
- University of Michigan (US)
- University of Cambridge (GB)
- Translational Research Institute (AU)
- Corresponding author
- Ellinghaus, David
- ORCID
- Ellinghaus, David
- Spain, Sarah L
- Bethune, Jörn
- Han, Buhm
- Park, Yu Rang
- Raychaudhuri, Soumya
- Pouget, Jennie G
- Hübenthal, Matthias
- Folseraas, Trine
- Wang, Yunpeng
- Esko, Tonu
- Metspalu, Andres
- Westra, Harm-Jan
- Franke, Lude
- Pers, Tune H
- Weersma, Rinse K
- Collij, Valerie
- Halfvarson, Jonas
- Jensen, Anders Boeck
- Lieb, Wolfgang
- Degenhardt, Franziska
- Forstner, Andreas J
- Schreiber, Stefan
- Mrowietz, Ulrich
- Lazaridis, Konstantinos N
- Brunak, Søren
- Dale, Anders M
- Trembath, Richard C
- Weidinger, Stephan
- Weichenthal, Michael
- Ellinghaus, Eva
- Andreassen, Ole A
- McGovern, Dermot P
- Karlsen, Tom H
- Barrett, Jeffrey C
- Parkes, Miles
- Brown, Matthew A
- Venue
- Nature Genetics
- Published
- 2016-03-14
- Volume
- 48
- Issue
- 5
- Pages
- 510-518
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC4848113
- OpenAlex
- W2297994856
- Semantic Scholar
- 372a076554a5ec1f9e595ef356670468d66cfa6a
- Cited by
- 751
- References
- 55
- Citations by year
- 2026: 45 · 2025: 52 · 2024: 69 · 2023: 81 · 2022: 99 · 2021: 95 · 2020: 82 · 2019: 80 · 2018: 56 · 2017: 69 · 2016: 22
- FWCI
- 61.13
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- UWA Profiles and Research Repository (UWA) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, other-oa)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Seoul National University Open Repository (Seoul National University) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- National Institute for Health and Care Research
- King's College London
- Deutsche Forschungsgemeinschaft (01ZX1306A)
- Eesti Teadusagentuur (IUT20-60)
- Bundesministerium für Bildung und Forschung (01GS08147, 01ZX1306A, 01GS08144)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (016.136.308)
- Crohn's and Colitis UK (M11-1)
- Lundbeckfonden (R190 2014-3904)
- Novo Nordisk (NNF14CC0001)
- Vetenskapsrådet (521‐2011‐2764)
- Tartu Ülikool (SP1GVARENG)
- Novo Nordisk Fonden (NNF 14CC0001)
- Exzellenzclusters Entzündungsforschung
- National Institutes of Health (5r01ar063759-07, H2020, 1R01‐AR‐063759, U19-AI111224-01, AI111224)
- Horizon 2020 Framework Programme (634143)
- National Institute of General Medical Sciences (U01GM092691)
- National Institute of Allergy and Infectious Diseases (U19AI111224)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK084960)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (UH2AR067677, R01AR050511, R01AR042742, R01AR065183, R01AR063611, R01-AR063759)
- National Center for Research Resources (M01RR000042)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Gastroenterology › Inflammatory Bowel Disease
- Health Sciences › Medicine › Rheumatology › Spondyloarthritis Studies and Treatments
- Keywords
- chronic inflammatory diseases, pleiotropy, ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis, inflammatory bowel disease, genetic susceptibility loci, comorbidities, gene expression, immune disorders
- MeSH terms
- Bayes Theorem, Chronic Disease, Colitis, Ulcerative, Crohn Disease, Genotype, Humans, Inflammation, Psoriasis, Spondylitis, Ankylosing, Genetic Variation, Cholangitis, Sclerosing, Comorbidity, Genetic Heterogeneity, Quantitative Trait Loci, Genome-Wide Association Study, Genetic Pleiotropy
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