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2. HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44+ Natural Killer Cells in Ulcerative Colitis

Author

Akar, Alaa, Flemming, Cornelius, Felix, Flomm, Flosbach, Markus, Jäger, Julia, Jeromin, Niklas, Jung, Johannes, Ohms, Mareike, Reinshagen, Konrad, Rische, Johann, Sagebiel, Adrian, Sandfort, Deborah, Steinert, Fenja, Tomuschat, Christian, Wesche, Jasmin, Shifteh Abedian, Abraham, Clara, Achkar, Jean-Paul, Ahmad, Tariq, Alberts, Rudi, Alizadeh, Behrooz, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Annese, Vito, Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Bampton, Peter A., Barclay, Murray, Barrett, Jeffrey C., Bethge, Johannes, Bewshea, Claire, Bis, Joshua C., Bitton, Alain, BK, Thelma, Boucher, Gabrielle, Brain, Oliver, Brand, Stephan, Brant, Steven R., Cheon, Jae Hee, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Cooney, Rachel, Croft, Anthony, Daly, Mark J., D'Amato, Mauro, Danese, Silvio, Daryani, Naser Ebrahim, Datta, Lisa Wu, Degenhardt, Frauke, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Drummond, Hazel E., Dubinsky, Marla, Duerr, Richard H., Edwards, Cathryn, Ellinghaus, David, Ellul, Pierre, Esaki, Motohiro, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Franke, Andre, Fuyuno, Yuta, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jürgen, Goyette, Philippe, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Hold, Georgina L., Hong, Myhunghee, Hu, Xinli, Huang, Hailiang, Hugot, Jean-Pierre, Hui, Ken Y., Imielinski, Marcin, Jazayeri, Omid, Jonaitis, Laimas, Jostins, Luke, Juyal, Garima, Chandra Juyal, Ramesh, Kalla, Rahul, Karlsen, Tom H., Kennedy, Nicholas A., Khan, Mohammed Azam, Kim, Won Ho, Kitazono, Takanari, Kiudelis, Gediminas, Kubo, Michiaki, Kugathasan, Subra, Kupcinskas, Limas, Lamb, Christopher A., de Lange, Katrina M., Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Lewis, Nina, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Luo, Yang, Mahy, Gillian, Malekzadeh, Masoud Mohammad, Malekzadeh, Reza, Mansfield, John, Marriott, Suzie, Massey, Dunecan, Mathew, Christopher G., Matsui, Toshiyuki, McGovern, Dermot P.B., van der Meulen, Andrea, Midha, Vandana, Milgrom, Raquel, Mirzaei, Samaneh, Mitrovic, Mitja, Montgomery, Grant W., Mowat, Craig, Müller, Christoph, Newman, William G., Ng, Aylwin, Ng, Siew C., Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nöthen, Markus, Oikonomou, Ioannis, Okou, David, Orchard, Timothy R., Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Urõs, Poustchi, Hossein, Prescott, Natalie J., Proctor, Deborah D., Radford-Smith, Graham, Rahier, Jean- Francois, Regueiro, Miguel, Reinisch, Walter, Rieder, Florian, Rioux, John D., Roberts, Rebecca, Rogler, Gerhard, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Scharl, Michael, Schembri, John, Schreiber, Stefan, Schumm, L. Philip, Scott, Regan, Seielstad, Mark, Shah, Tejas, Sharma, Yashoda, Silverberg, Mark S., Simmons, Alison, Simms, Lisa A., Singh, Abhey, Skieceviciene, Jurgita, van Sommeren, Suzanne, Song, Kyuyoung, Sood, Ajit, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sung, Joseph J.Y., Targan, Stephan R., Taylor, Kirstin M., Theatre, Emilie, Torkvist, Leif, Torres, Esther A., Tremelling, Mark, Uhlig, Holm H., Umeno, Junji, Vahedi, Homayon, Vasiliauskas, Eric, Velde, Anje ter, Ventham, Nicholas T., Vermeire, Severine, Verspaget, Hein W., De Vos, Martine, Walters, Thomas, Wang, Kai, Wang, Ming-Hsi, Weersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Wong, Sunny H., Xavier, Ramnik J., Yamazaki, Keiko, Yang, Suk-Kyun, Ye, Byong Duk, Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wei, Zhao, Hongyu, Zhao, Zhen Z., Baumdick, Martin E., Niehrs, Annika, Schwerk, Maria, Hinrichs, Ole, Jordan-Paiz, Ana, Padoan, Benedetta, Wegner, Lucy H.M., Schloer, Sebastian, Zecher, Britta F., Malsy, Jakob, Joshi, Vinita R., Illig, Christin, Schröder-Schwarz, Jennifer, Möller, Kimberly J., Martin, Maureen P., Yuki, Yuko, Ozawa, Mikki, Sauter, Jürgen, Schmidt, Alexander H., Perez, Daniel, Giannou, Anastasios D., Carrington, Mary, Davis, Randall S., Schumacher, Udo, Sauter, Guido, Huber, Samuel, Puelles, Victor G., Melling, Nathaniel, Altfeld, Marcus, and Bunders, Madeleine J.

Published
2023
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5. Spanish Society of Primary Care Physicians (SEMERGEN) and Spanish Working Group on Crohn’s Disease and Ulcerative Colitis (GETECCU) survey on the management of patients with inflammatory bowel disease

Author

Ginard, Daniel, primary, Ricote, Mercedes, additional, Nos, Pilar, additional, Elena Pejenaute, M., additional, Sans, Miquel, additional, Fontanillas, Noelia, additional, Barreiro-de Acosta, Manuel, additional, and Polo Garcia, José, additional

Published
2023
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6. Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

Author

Ellinghaus, David, Zhang, Hu, Zeissig, Sebastian, Lipinski, Simone, Till, Andreas, Jiang, Tao, Stade, Björn, Bromberg, Yana, Ellinghaus, Eva, Keller, Andreas, Rivas, Manuel A, Skieceviciene, Jurgita, Doncheva, Nadezhda T, Liu, Xiao, Liu, Qing, Jiang, Fuman, Forster, Michael, Mayr, Gabriele, Albrecht, Mario, Häsler, Robert, Boehm, Bernhard O, Goodall, Jane, Berzuini, Carlo R, Lee, James, Andersen, Vibeke, Vogel, Ulla, Kupcinskas, Limas, Kayser, Manfred, Krawczak, Michael, Nikolaus, Susanna, Weersma, Rinse K, Ponsioen, Cyriel Y, Sans, Miquel, Wijmenga, Cisca, Strachan, David P, McArdle, Wendy L, Vermeire, Séverine, Rutgeerts, Paul, Sanderson, Jeremy D, Mathew, Christopher G, Vatn, Morten H, Wang, Jun, Nöthen, Markus M, Duerr, Richard H, Büning, Carsten, Brand, Stephan, Glas, Jürgen, Winkelmann, Juliane, Illig, Thomas, Latiano, Anna, Annese, Vito, Halfvarson, Jonas, D'Amato, Mauro, Daly, Mark J, Nothnagel, Michael, Karlsen, Tom H, Subramani, Suresh, Rosenstiel, Philip, Schreiber, Stefan, Parkes, Miles, and Franke, Andre

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Nutrition and Dietetics, Biotechnology, Genetics, Inflammatory Bowel Disease, Autoimmune Disease, Human Genome, Clinical Research, Digestive Diseases, Crohn's Disease, Aetiology, 2.1 Biological and endogenous factors, Oral and gastrointestinal, Inflammatory and immune system, Adolescent, Adult, Case-Control Studies, Colitis, Ulcerative, Crohn Disease, Exome, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Mutation, Missense, Nuclear Proteins, Polymorphism, Single Nucleotide, Positive Regulatory Domain I-Binding Factor 1, Quantitative Trait Loci, Repressor Proteins, Young Adult, Whole-Exome Sequencing, Complex Disease, CD, Crohn’s disease, GWAS, IBD, IFN, NF-κB, PBL, PBMC, SNP, SNV, TLR, Toll-like receptor, UC, WT, eQTL, expression quantitative trait locus, genome-wide association studies, inflammatory bowel disease, interferon, nuclear factor κB, peripheral blood lymphocyte, peripheral blood mononuclear cell, qRT-PCR, quantitative reverse-transcription polymerase chain reaction, single nucleotide polymorphism, single nucleotide variant, ulcerative colitis, wild-type, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background & aimsGenome-wide association studies (GWAS) have identified 140 Crohn's disease (CD) susceptibility loci. For most loci, the variants that cause disease are not known and the genes affected by these variants have not been identified. We aimed to identify variants that cause CD through detailed sequencing, genetic association, expression, and functional studies.MethodsWe sequenced whole exomes of 42 unrelated subjects with CD and 5 healthy subjects (controls) and then filtered single nucleotide variants by incorporating association results from meta-analyses of CD GWAS and in silico mutation effect prediction algorithms. We then genotyped 9348 subjects with CD, 2868 subjects with ulcerative colitis, and 14,567 control subjects and associated variants analyzed in functional studies using materials from subjects and controls and in vitro model systems.ResultsWe identified rare missense mutations in PR domain-containing 1 (PRDM1) and associated these with CD. These mutations increased proliferation of T cells and secretion of cytokines on activation and increased expression of the adhesion molecule L-selectin. A common CD risk allele, identified in GWAS, correlated with reduced expression of PRDM1 in ileal biopsy specimens and peripheral blood mononuclear cells (combined P = 1.6 × 10(-8)). We identified an association between CD and a common missense variant, Val248Ala, in nuclear domain 10 protein 52 (NDP52) (P = 4.83 × 10(-9)). We found that this variant impairs the regulatory functions of NDP52 to inhibit nuclear factor κB activation of genes that regulate inflammation and affect the stability of proteins in Toll-like receptor pathways.ConclusionsWe have extended the results of GWAS and provide evidence that variants in PRDM1 and NDP52 determine susceptibility to CD. PRDM1 maps adjacent to a CD interval identified in GWAS and encodes a transcription factor expressed by T and B cells. NDP52 is an adaptor protein that functions in selective autophagy of intracellular bacteria and signaling molecules, supporting the role of autophagy in the pathogenesis of CD.

Published
2013

7. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Author

Liu, Jimmy Z, Hov, Johannes Roksund, Folseraas, Trine, Ellinghaus, Eva, Rushbrook, Simon M, Doncheva, Nadezhda T, Andreassen, Ole A, Weersma, Rinse K, Weismüller, Tobias J, Eksteen, Bertus, Invernizzi, Pietro, Hirschfield, Gideon M, Gotthardt, Daniel Nils, Pares, Albert, Ellinghaus, David, Shah, Tejas, Juran, Brian D, Milkiewicz, Piotr, Rust, Christian, Schramm, Christoph, Müller, Tobias, Srivastava, Brijesh, Dalekos, Georgios, Nöthen, Markus M, Herms, Stefan, Winkelmann, Juliane, Mitrovic, Mitja, Braun, Felix, Ponsioen, Cyriel Y, Croucher, Peter JP, Sterneck, Martina, Teufel, Andreas, Mason, Andrew L, Saarela, Janna, Leppa, Virpi, Dorfman, Ruslan, Alvaro, Domenico, Floreani, Annarosa, Onengut-Gumuscu, Suna, Rich, Stephen S, Thompson, Wesley K, Schork, Andrew J, Næss, Sigrid, Thomsen, Ingo, Mayr, Gabriele, König, Inke R, Hveem, Kristian, Cleynen, Isabelle, Gutierrez-Achury, Javier, Ricaño-Ponce, Isis, van Heel, David, Björnsson, Einar, Sandford, Richard N, Durie, Peter R, Melum, Espen, Vatn, Morten H, Silverberg, Mark S, Duerr, Richard H, Padyukov, Leonid, Brand, Stephan, Sans, Miquel, Annese, Vito, Achkar, Jean-Paul, Boberg, Kirsten Muri, Marschall, Hanns-Ulrich, Chazouillères, Olivier, Bowlus, Christopher L, Wijmenga, Cisca, Schrumpf, Erik, Vermeire, Severine, Albrecht, Mario, UK-PSCSC Consortium, Rioux, John D, Alexander, Graeme, Bergquist, Annika, Cho, Judy, Schreiber, Stefan, Manns, Michael P, Färkkilä, Martti, Dale, Anders M, Chapman, Roger W, Lazaridis, Konstantinos N, International PSC Study Group, Franke, Andre, Anderson, Carl A, Karlsen, Tom H, and International IBD Genetics Consortium

Subjects
UK-PSCSC Consortium, International PSC Study Group, International IBD Genetics Consortium, Humans, Cholangitis, Sclerosing, Oligonucleotide Array Sequence Analysis, Risk Factors, Case-Control Studies, Gene Frequency, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci, Genetic Pleiotropy, Genotyping Techniques, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Primary sclerosing cholangitis (PSC) is a severe liver disease of unknown etiology leading to fibrotic destruction of the bile ducts and ultimately to the need for liver transplantation. We compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip. We identified 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16. Despite comorbidity with inflammatory bowel disease (IBD) in 72% of the cases, 6 of the 12 loci showed significantly stronger association with PSC than with IBD, suggesting overlapping yet distinct genetic architectures for these two diseases. We incorporated association statistics from 7 diseases clinically occurring with PSC in the analysis and found suggestive evidence for 33 additional pleiotropic PSC risk loci. Together with network analyses, these findings add to the genetic risk map of PSC and expand on the relationship between PSC and other immune-mediated diseases.

Published
2013

8. Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Author

Jostins, Luke, Ripke, Stephan, Weersma, Rinse K, Duerr, Richard H, McGovern, Dermot P, Hui, Ken Y, Lee, James C, Philip Schumm, L, Sharma, Yashoda, Anderson, Carl A, Essers, Jonah, Mitrovic, Mitja, Ning, Kaida, Cleynen, Isabelle, Theatre, Emilie, Spain, Sarah L, Raychaudhuri, Soumya, Goyette, Philippe, Wei, Zhi, Abraham, Clara, Achkar, Jean-Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N, Andersen, Vibeke, Andrews, Jane M, Baidoo, Leonard, Balschun, Tobias, Bampton, Peter A, Bitton, Alain, Boucher, Gabrielle, Brand, Stephan, Büning, Carsten, Cohain, Ariella, Cichon, Sven, D’Amato, Mauro, De Jong, Dirk, Devaney, Kathy L, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Ferguson, Lynnette R, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jürgen, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hedl, Matija, Hu, Xinli, Karlsen, Tom H, Kupcinskas, Limas, Kugathasan, Subra, Latiano, Anna, Laukens, Debby, Lawrance, Ian C, Lees, Charlie W, Louis, Edouard, Mahy, Gillian, Mansfield, John, Morgan, Angharad R, Mowat, Craig, Newman, William, Palmieri, Orazio, Ponsioen, Cyriel Y, Potocnik, Uros, Prescott, Natalie J, Regueiro, Miguel, Rotter, Jerome I, Russell, Richard K, Sanderson, Jeremy D, Sans, Miquel, Satsangi, Jack, Schreiber, Stefan, Simms, Lisa A, Sventoraityte, Jurgita, Targan, Stephan R, Taylor, Kent D, Tremelling, Mark, Verspaget, Hein W, De Vos, Martine, Wijmenga, Cisca, Wilson, David C, Winkelmann, Juliane, Xavier, Ramnik J, Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K, Zhao, Hongyu, Silverberg, Mark S, Annese, Vito, Hakonarson, Hakon, Brant, Steven R, Radford-Smith, Graham, Mathew, Christopher G, Rioux, John D, and Schadt, Eric E

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Digestive Diseases, Human Genome, Inflammatory Bowel Disease, Biotechnology, Autoimmune Disease, Crohn's Disease, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Oral and gastrointestinal, Colitis, Ulcerative, Crohn Disease, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Haplotypes, Host-Pathogen Interactions, Humans, Inflammatory Bowel Diseases, Mycobacterium, Mycobacterium Infections, Mycobacterium tuberculosis, Phenotype, Polymorphism, Single Nucleotide, Reproducibility of Results, International IBD Genetics Consortium, General Science & Technology
Abstract

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.

Published
2012

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

Author

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 SN, Floyd, James AB, 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, and Chamaillard, Mathias

Subjects
Biological Sciences, Genetics, Autoimmune Disease, Human Genome, Crohn's Disease, Digestive Diseases, Nutrition, Inflammatory Bowel Disease, Prevention, Oral and gastrointestinal, Colitis, Ulcerative, Crohn Disease, Genome-Wide Association Study, Humans, Risk, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
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.

Published
2011

10. SEGURIDAD DE LAS VACUNAS DE VIRUS VIVOS EN NIÑOS EXPUESTOS A FÁRMACOS BIOLÓGICOS PARA LA ENFERMEDAD INFLAMATORIA INTESTINAL (EII) EN EL ÚTERO O DURANTE LA LACTANCIA MATERNA

Author

Chaparro, María, primary, Donday, María García, additional, Rubio, Saioa, additional, Suarez, Cristina Calviño, additional, Ortiz, Andrea Núñez, additional, Figueira, Montserrat, additional, Pedrosa, Sandra Marín, additional, Rivero, Montserrat, additional, Fernández-Clotet, Agnes, additional, Madero, Lucía, additional, Palomares, María Teresa Diz-Lois, additional, Pérez-Martínez, Isabel, additional, Ruiz-Cerulla, Alexandra, additional, Arroyo, Maite, additional, Piqueras, Marta, additional, Ferrer, Cristina Suárez, additional, Aguas, Mariam, additional, Moya, Marta Calvo, additional, Guerra, Iván, additional, Serrano, Pilar López, additional, Morón, Juan María Vázquez, additional, García, Lara Arias, additional, Casanova, María José, additional, Huguet, José María, additional, Gomis, Gemma Valldosera, additional, de Mora-Figueroa, Beatriz Zúñiga, additional, Armesto, Rubén, additional, Montiel, Pilar Martínez, additional, Rodríguez-Lago, Iago, additional, Rumbeu, Pau Sendra, additional, Camero, Raquel Camargo, additional, Cruz, Daniel Hervías, additional, Arriero, Gema Molina, additional, Marín, Carlos Tardillo, additional, de Jorge Turrión, Miguel Ángel, additional, Lidón, Raquel Vicente, additional, Bujanda, Luis, additional, de la Piscina, Patricia Ramírez, additional, Alonso, Virginia Robles, additional, Ramos, Laura, additional, Insa, Raúl Rodríguez, additional, van Domselaar, Manuel, additional, Casals, David Busquets, additional, Marcos, Noemí Manceñido, additional, Grau, María Carmen Rodríguez, additional, González, Edisa María Armesto, additional, Lucendo, Alfredo J, additional, Márquez-Mosquera, Lucía, additional, López, Víctor Manuel Navas, additional, Prieto, Vanessa, additional, Nieto, Yolanda Ber, additional, Martín, Esther Bernardos, additional, Milla, Carlos Castaño, additional, Hernández, Luis, additional, Arnau, Empar Sáinz, additional, Sans, Miquel, additional, Martínez, Belén Herreros, additional, Morales, Víctor Jair, additional, Mínguez, Miguel, additional, Acosta, Manuel Barreiro-de, additional, Acosta, Diana, additional, Brenes, Yanire, additional, Hermida, Sandra, additional, Parra, Pablo, additional, Garre, Ana, additional, and Gisbert, Javier P., additional

Published
2023
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12. Encuesta Sociedad Española de Médicos de Atención Primaria (SEMERGEN) y Grupo Español de Trabajo en Enfermedad de Crohn y Colitis Ulcerosa (GETECCU) sobre el manejo de pacientes con enfermedad inflamatoria intestinal

Author

Ginard, Daniel, primary, Ricote, Mercedes, additional, Nos, Pilar, additional, Pejenaute, M. Elena, additional, Sans, Miquel, additional, Fontanillas, Noelia, additional, Barreiro-de Acosta, Manuel, additional, and Polo Garcia, José, additional

Published
2022
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18. High smoking cessation rate in Crohn's disease patients after physician advice – The TABACROHN Study

Author

Nunes, Tiago, Etchevers, Maria Josefina, Merino, Olga, Gallego, Sonia, García-Sánchez, Valle, Marín-Jiménez, Ignacio, Menchén, Luis, Barreiro-de Acosta, Manuel, Bastida, Guillermo, García, Sara, Gento, Elena, Ginard, Daniel, Martí, Eva, Gomollón, Fernando, Arroyo, Maite, Monfort, David, García-Planella, Esther, Gonzalez, Benito, Loras, Carme, Agustí, Carles, Figueroa, Carolina, and Sans, Miquel

Published
2013
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19. 3rd European Evidence-based Consensus on the Diagnosis and Management of Crohn’s Disease 2016: Part 1: Diagnosis and Medical Management

Author

Gomollón, Fernando, Dignass, Axel, Annese, Vito, Tilg, Herbert, Van Assche, Gert, Lindsay, James O., Peyrin-Biroulet, Laurent, Cullen, Garret J., Daperno, Marco, Kucharzik, Torsten, Rieder, Florian, Almer, Sven, Armuzzi, Alessandro, Harbord, Marcus, Langhorst, Jost, Sans, Miquel, Chowers, Yehuda, Fiorino, Gionata, Juillerat, Pascal, Mantzaris, Gerassimos J., Rizzello, Fernando, Vavricka, Stephan, and Gionchetti, Paolo

Published
2017
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24. Usefulness of oral beclometasone dipropionate in the treatment of active ulcerative colitis in clinical practice: The RECLICU Study

Author

Nunes, Tiago, Acosta, Manuel Barreiro-de, Nos, Pilar, Marin-Jiménez, Ignacio, Bermejo, Fernando, Ceballos, Daniel, Iglesias, Eva, Gomez-Senent, Silvia, Torres, Yolanda, Ponferrada, Angel, Arevalo, José A., Hernandez, Vicent, Calvet, Xavier, Ginard, Daniel, Monfort, David, Chaparro, Maria, Manceñido, Noemi, Domínguez-Antonaya, Mercedes, Villalón, César, Perez-Calle, José L., Muñoz, Carmen, Nuñez, Henar, Carpio, Daniel, Aramendiz, Roberto, Bujanda, Luis, Estrada-Oncins, Silvia, Hermida, Carlos, Barrio, Jesus, Casis, Mª Begoña, Dueñas-Sadornil, M <ce:sup loc='post">a</ce:sup> Carmen, Fernández, Luis, Calvo-Cenizo, Mª Mar, Botella, Belen, de Francisco, Ruth, Ayala, Edgar, and Sans, Miquel

Published
2010
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27. Crucial role of the protein C pathway in governing microvascular inflammation in inflammatory bowel disease

Author

Scaldaferri, Franco, Sans, Miquel, Vetrano, Stefania, Graziani, Cristina, De Cristofaro, Raimondo, Gerlitz, Bruce, Repici, Alessandro, Arena, Vincenzo, Malesci, Alberto, Panes, Julian, Grinnell, Brian W., and Danese, Silvio

Subjects
Colorectal diseases -- Research, Gastrointestinal diseases -- Research, Inflammation -- Research, Protein C -- Research
Abstract

Endothelial protein C receptor (EPCR) and thrombomodulin (TM) are expressed at high levels in the resting microvasculature and convert protein C (PC) into its activated form, which is a potent [...]

Published
2007

28. Una estratègia de promoció del turisme rural com a oportunitat per a les muntanyes de Prades

Author

Universitat Rovira i Virgili, Bové Sans, Miquel Angel / Rabassa Figueras, Maria Noemí, Universitat Rovira i Virgili, and Bové Sans, Miquel Angel / Rabassa Figueras, Maria Noemí

Abstract

Las montañas de Prades son un espacio natural excepcional, que integra un entorno geográfico y socioeconómico singular que implica a 22 municipios de las comarcas del Baix Camp, Conca de Barberà, Alt Camp, el Priorat y las Garrigues. La mayoría de estos pueblos han ido registrando una pérdida significativa de población en los últimos diez años. Esta tendencia supone un envejecimiento de la población, el abandono de actividades económicas tradicionales y pone en riesgo el mantenimiento de importantes elementos que configuran el propio atractivo turístico de estos pueblos y de sus paisajes. Parte de las opciones para frenar y revertir estas dinámicas negativas dependen de una estrategia conjunta, coordinada y efectiva de promoción turística. En este sentido, hay que aprovechar las ventajas de comunicación que ofrece Internet y las redes sociales, que se pueden desarrollar a escala local para incidir en un mercado global de turismo rural.

Published
2020

29. Lactobacillus casei prevents the upregulation of ICAM-1 expression and leukocyte recruitment in experimental colitis

Author

Angulo, Sandra, Llopis, Marta, Antolin, Maria, Gironella, Meritxell, Sans, Miquel, Malagelada, Juan Ramon, Pique, Josep Maria, Guarner, Francisco, and Panes, Julian

Subjects
Inflammatory bowel diseases -- Research, Cell adhesion molecules -- Research, Biological sciences
Abstract

Lactobacillus casei has been shown to attenuate the severity of experimental colitis. The objective of the present study was to determine whether the effects of L. casei on colitis are related to modulation of leukocyte recruitment into the inflamed intestine. Rats with a colonic segment excluded from fecal transit were surgically prepared. The segment was decontaminated with antibiotics and recolonized with normal flora isolated from the inflamed rat colon, associated or not to L. casei. Control and colitic [2,4,6-trinitrobenzenesulfonic acid (TNBS)-induced] animals were studied. Leukocyte-endothelial cell interactions were characterized in the colonic microcirculation by intravital microscopy, and ICAM-1 and VCAM-1 expression was measured by the radiolabeled antibody technique. Compared with the noninflamed colonic segment, induction of colitis by TNBS provoked a marked increase in the number of leukocytes firmly adherent to the venular wall (0.5 [+ or -] 0.1 vs. 2.1 [+ or -] 0.6 leukocytes/100 [micro]m, P < 0.01). Colonization with L. casei significantly reduced the number of adherent leukocytes (1.3 [+ or -] 0.4 leukocytes/100 [micro]m; P < 0.05) but did not affect the increased rolling interactions associated with the induction of colitis. Compared with the noncolitic group, induction of colitis was associated with a marked increase in ICAM-1 expression (117 [+ or -] 4 vs. 180 [+ or -] 3 ng antibody/g tissue) that was abrogated when the colitic segment was colonized by L. casei (117 [+ or -] 3 ng antibody/g tissue, P < 0.05). However, L. casei administration did not modify VCAM-1 upregulation in colitic animals. L. casei attenuates leukocyte recruitment observed in experimental colitis induced by TNBS. This effect is possibly related to abrogation of ICAM-1 upregulation. inflammatory bowel diseases; probiotics; cell adhesion molecules; endothelium

Published
2006

31. Genetic factors conferring an increased susceptibility to develop Crohnʼs disease also influence disease phenotype: results from the IBDchip European Project

Author

Cleynen, Isabelle, González, Juan R, Figueroa, Carolina, Franke, Andre, McGovern, Dermot, Bortlík, Martin, Crusius, Bart J A, Vecchi, Maurizio, Artieda, Marta, Szczypiorska, Magdalena, Bethge, Johannes, Arteta, David, Ayala, Edgar, Danese, Silvio, van Hogezand, Ruud A, Panés, Julian, Peña, Salvador Amado, Lukas, Milan, Jewell, Derek P, Schreiber, Stefan, Vermeire, Severine, and Sans, Miquel

Published
2013
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32. LIAISON®Calprotectin for the prediction of relapse in quiescent ulcerative colitis: The EuReCa study

Author

Fiorino, Gionata, Danese, Silvio, Peyrin‐Biroulet, Laurent, Sans, Miquel, Bonelli, Fabrizio, Calleri, Mariella, Zierold, Claudia, Pollastro, Roberta, Moretti, Fabio, and Malesci, Alberto

Abstract

Fecal calprotectin (FC) is established as a diagnostic marker to differentiate between inflammatory bowel diseases and non‐inflammatory conditions. Furthermore, it may be effective in monitoring response to treatment, and to predict relapse during maintenance therapy. This was a prospective longitudinal study carried out in Italy, France and Spain. The primary objective was to correlate the LIAISON®Calprotectin assay measurements to quiescent ulcerative colitis (UC) or relapse as assessed by clinical data. Patients were assessed every 3 months for 12 months, and at 18 months. The last FC measured prior to relapse was the variable that predicted relapse in a statistically significant manner. With a 62.3 μg/g cut‐off the area under the curve was 0.619, and the sensitivity was 62.9% (95% Confidence Interval [CI] 44.9%–78.5%) and specificity 63.0% (95% CI 53.1%–72.1%). Using machine learning methods, the last FC measurement was shown to have the largest impact in predicting relapse. An algorithm was developed that included other variables available following a clinician's visit, which resulted in an area under the curve of 0.754 for predicting relapse. In the present study FC measured by the LIAISON®Calprotectin assay on the visit before relapse is predictive of relapse in patients with quiescent UC. In a proof of concept, the accuracy of prediction can further be improved including other variables in an algorithm developed by machine learning. The trial is registered at clinicaltrials.govwith reference number NCT05168917.

Published
2022
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41. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

Author

Goyette, Philippe, Boucher, Gabrielle, Mallon, Dermot, Ellinghaus, Eva, Jostins, Luke, Huang, Hailiang, Ripke, Stephan, Gusareva, Elena S., Annese, Vito, Hauser, Stephen L., Oksenberg, Jorge R., Thomsen, Ingo, Leslie, Stephen, Daly, Mark J., Van Steen, Kristel, Duerr, Richard H., Barrett, Jeffrey C., Mcgovern, Dermot P. B., Schumm, L. Philip, Traherne, James A., Carrington, Mary N., Kosmoliaptsis, Vasilis, Karlsen, Tom H., Franke, Andre, Rioux, John D., Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Balschun, Tobias, Bampton, Peter A., Barclay, Murray, Bayless, Theodore M., Bethge, Johannes, Bis, Joshua C., Bitton, Alain, Brand, Stephan, Brant, Steven R., Buning, Carsten, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Croft, Anthony, D'Amato, Mauro, Danese, Silvio, De Jong, Dirk, De Vos, Martine, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jurgen, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Xinli, Hu, Hui, Ken Y., Imielinski, Marcin, Ippoliti, Andrew, Jonaitis, Laimas, Kennedy, Nicholas A., Khan, Mohammed Azam, Kiudelis, Gediminas, Kugathasan, Subra, Kupcinskas, Limas, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Mahy, Gillian, Mansfield, John, Massey, Dunecan, Mathew, Christopher G., Milgrom, Raquel, Mitrovic, Mitja, Montgomery, Grant, Mowat, Craig, Newman, Wwilliam, Aylwin, Ng, Siew C., Ng, Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nothen, Markus, Oikonomou, Ioannis, Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Proctor, Deborah D., Radford Smith, Graham, Rahier, Jean Francois, Raychaudhur, Soumya, Regueiro, Miguel, Rieder, Florian, Roberts, Rebecca, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Schreiber, Stefan, Scott, Regan, Seielstad, Mark, Sharma, Yashoda, Silverberg, Mark S., Simms, Lisa A., Skieceviciene, Jurgita, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kirstin M., Ter Velde, Anje, Theatre, Emilie, Torkvist, Leif, Tremelling, Mark, Van Der Meulen, Andrea, Van Sommeren, Suzanne, Vasiliauskas, Eric, Vermeire, Severine, Verspaget, Hein W., Walters, Thomas, Wwang, Kai, Wwang, Ming Hsi, Wweersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wwei, Zhao, Hongyu, Zhao, Zhen Z., Gastroenterology and Hepatology, Traherne, James [0000-0002-6003-8559], Kosmoliaptsis, Vasilis [0000-0001-7298-1387], and Apollo - University of Cambridge Repository

Subjects
Heterozygote, Genotype, Genotyping Techniques, Genetic Linkage, Ulcerative, Human leukocyte antigen, Biology, Major histocompatibility complex, Polymorphism, Single Nucleotide, Article, Primary sclerosing cholangitis, Major Histocompatibility Complex, Alleles, Chromosome Mapping, Colitis, Ulcerative, Crohn Disease, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DRB1 Chains, Humans, Inflammatory Bowel Diseases, Phenotype, Genetics, medicine, HLA-DR, Polymorphism, Colitis, HLA-DRB1, Crohn's disease, Single Nucleotide, medicine.disease, Ulcerative colitis, digestive system diseases, Immunology, biology.protein
Abstract

Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.

Published
2015

42. 3rd European Evidence-based Consensus on the Diagnosis and Management of Crohn's Disease 2016: Part 1: Diagnosis and Medical Management

Author

Gomollón, Fernando, Dignass, Axel, Annese, Vito, Tilg, Herbert, Van Assche, Gert, Lindsay, James O., Peyrin-Biroulet, Laurent, Cullen, Garret J., Daperno, Marco, Kucharzik, Torsten, Rieder, Florian, Almer, Sven, Armuzzi, Alessandro, Harbord, Marcus, Langhorst, Jost, Sans, Miquel, Chowers, Yehuda, Fiorino, Gionata, Juillerat, Pascal, Mantzaris, Gerassimos J., Rizzello, Fernando, Vavricka, Stephan, Gionchetti, Paolo, Bossuyt, Peter, Mijandrusic-Sincic, Brankica, Douda, Thomas, Brynskov, Jørn, Knudsen, Torben, Manninen, Pia, Carbonnel, Franck, Sturm, Andreas, Koutroubakis, Ioannis, O'Morain, Colm, Kohn, Anna, Berset, Ingrid Prytz, Kierkus, Jaroslaw, Zagorowicz, Edyta, Diculescu, Mihai Mircea, Goldis, Adrian, Potapov, Alexander, Jorda, Francesc Casellas, Celik, Aykut Ferhat, Irving, Peter, Gomollón, Fernando, Dignass, Axel, Annese, Vito, Tilg, Herbert, Van Assche, Gert, Lindsay, James O, Peyrin-Biroulet, Laurent, Cullen, Garret J, Daperno, Marco, Kucharzik, Torsten, Rieder, Florian, Almer, Sven, Armuzzi, Alessandro, Harbord, Marcu, Langhorst, Jost, Sans, Miquel, Chowers, Yehuda, Fiorino, Gionata, Juillerat, Pascal, Mantzaris, Gerassimos J, Rizzello, Fernando, Vavricka, Stephan, and Gionchetti, Paolo

Subjects
Crohn’s disease, Perianal disease, medicine.medical_treatment, strictureplasty, Medizin, Disease, Gastroenterology, Management of Crohn's disease, Endoscopy, Gastrointestinal, 0302 clinical medicine, Crohn Disease, Recurrence, Fistulizing disease, Strictureplasty, Tomography, Immunosuppressant, Crohn's disease, Evidence-Based Medicine, treatment, steroid, Remission Induction, General Medicine, Magnetic Resonance Imaging, X-Ray Computed, Intestines, 030220 oncology & carcinogenesis, Steroids, 030211 gastroenterology & hepatology, biologic, medicine.drug, fistulizing disease, vedolizumab, Gastrointestinal, medicine.medical_specialty, Evidence-based practice, Settore MED/12 - GASTROENTEROLOGIA, MEDLINE, Biologics, Vedolizumab, 03 medical and health sciences, Internal medicine, thiopurine, medicine, Humans, Intensive care medicine, Thiopurine, business.industry, Endoscopy, Evidence-based medicine, medicine.disease, digestive system diseases, perianal disease, Treatment, business, Tomography, X-Ray Computed
Abstract

This paper is the first in a series of two publications relating to the European Crohn's and Colitis Organisation [ECCO] evidence-based consensus on the diagnosis and management of Crohn's disease and concerns the methodology of the consensus process, and the classification, diagnosis and medical management of active and quiescent Crohn's disease. Surgical management as well as special situations including management of perianal Crohn's disease of this ECCO Consensus are covered in a subsequent second paper [Gionchetti et al JCC 2016].

Published
2016

45. 3rd European Evidence-based Consensus on the Diagnosis and Management of Crohn's Disease 2016: Part 1: Diagnosis and Medical Management

Author

Gionchetti, Paolo, Almer, Sven, Gomollón, Fernando, Dignass, Axel, Fiorino, Gionata, Peyrin-Biroulet, Laurent, Chowers, Yehuda, Rieder, Florian, Tilg, Herbert, Cullen, Garret J, Kucharzik, Torsten, Juillerat, Pascal, Vavricka, Stephan, Van Assche, Gert, Mantzaris, Gerassimos J, Lindsay, James O, Daperno, Marco, Harbord, Marcus, Sans, Miquel, Rizzello, Fernando, Langhorst, Jost, Armuzzi, Alessandro, and Annese, Vito

Subjects
610 Medicine & health, digestive system diseases
Abstract

This paper is the first in a series of two publications relating to the European Crohn's and Colitis Organisation [ECCO] evidence-based consensus on the diagnosis and management of Crohn's disease and concerns the methodology of the consensus process, and the classification, diagnosis and medical management of active and quiescent Crohn's disease. Surgical management as well as special situations including management of perianal Crohn's disease of this ECCO Consensus are covered in a subsequent second paper [Gionchetti et al JCC 2016].

Published
2017
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49. Sistemas de Visualización Gamificados para la mejora de la Motivación Intrínseca en Estudiantes de Arquitectura - [Gamified Visual Systems for improving the Intrinsic Motivation of Architectural Students]

Author

Fonseca, David, primary, Navarro, Isidro, additional, Villagrasa, Sergi, additional, Valls, Francesc, additional, Redondo, Ernest, additional, Gené, Marc, additional, Calvo, Xavi, additional, Aymerich, Claudia, additional, and Sans, Miquel, additional

Published
2017
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