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17 results on '"Potocnik, Uros"'

1. 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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2. Medication use in uncontrolled pediatric asthma: Results from the SysPharmPediA study

Author

Alizadeh Bahmani, Amir Hossein, Slob, Elise M.A., Bloemsma, Lizan D., Brandstetter, Susanne, Corcuera-Elosegui, Paula, Gorenjak, Mario, Harner, Susanne, Hashimoto, Simone, Hedman, Anna M., Kabesch, Michael, Koppelman, Gerard H., Korta-Murua, Javier, Kraneveld, Aletta D., Neerincx, Anne H., Pijnenburg, Mariëlle W., Pino-Yanes, Maria, Potočnik, Uroš, Sardón-Prado, Olaia, Vijverberg, Susanne J.H., Wolff, Christine, Abdel-Aziz, Mahmoud I., and Maitland-van der Zee, Anke H.

Published
2023
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3. Pre-treatment risk assessment of women with endometrial cancer: differences in outcomes of molecular and clinical classifications in the Slovenian patient cohort

Author

Knez Jure, Sobocan Monika, Belak Urska, Kavalar Rajko, Zupin Mateja, Büdefeld Tomaz, Potocnik Uros, and Takac Iztok

Subjects
endometrial cancer, molecular classification, risk assessment, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

The aim of this study was to evaluate changes in prognostic risk profiles of women with endometrial cancer by comparing the clinical risk assessment with the integrated molecular risk assessment profiling.

Published
2021
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4. 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, Crohn's Disease, Human Genome, Autoimmune Disease, Inflammatory Bowel Disease, Digestive Diseases, 2.1 Biological and endogenous factors, 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

5. Single nucleotide polymorphisms in genes MACC1, RAD18, MMP7 and SDF-1a as prognostic factors in resectable colorectal cancer

Author

Horvat Matej, Potocnik Uros, Repnik Katja, Kavalar Rajko, Zadnik Vesna, Potrc Stojan, and Stabuc Borut

Subjects
single nucleotide polymorphism, colorectal cancer, macc1, rad18, mmp7, sdf-1a, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

Colorectal cancer (CRC) represents one of the most common malignancies worldwide. Research has indicated that functional gene changes such as single nucleotide polymorphism (SNP) influence carcinogenesis and metastasis and might have an influence on disease relapse. The aim of our study was to evaluate the role of SNPs in selected genes as prognostic markers in resectable CRC.

Published
2017
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6. Identification of a shared genetic risk locus for Kawasaki disease and immunoglobulin A vasculitis by a cross-phenotype meta-analysis.

Author

Instituto de Salud Carlos III, Ministerio de Economía, Industria y Competitividad (España), European Commission, Carmona, Elio G., García-Giménez, José A., López-Mejías, Raquel, Khor, Chiea Chuen, Lee, Jong-Keuk, Taskiran, Ekim, Ozen, Seza, Hocevar, Alojzija, Liu, Lili, Gorenjak, Mario, Potocnik, Uros, Kiryluk, Krzysztof, Ortego-Centeno, Norberto, Cid, María C., Hernández-Rodríguez, José, Castañeda, Santos, González-Gay, Miguel A., Burgner, David, Martin, Javier, Márquez, Ana, Instituto de Salud Carlos III, Ministerio de Economía, Industria y Competitividad (España), European Commission, Carmona, Elio G., García-Giménez, José A., López-Mejías, Raquel, Khor, Chiea Chuen, Lee, Jong-Keuk, Taskiran, Ekim, Ozen, Seza, Hocevar, Alojzija, Liu, Lili, Gorenjak, Mario, Potocnik, Uros, Kiryluk, Krzysztof, Ortego-Centeno, Norberto, Cid, María C., Hernández-Rodríguez, José, Castañeda, Santos, González-Gay, Miguel A., Burgner, David, Martin, Javier, and Márquez, Ana

Abstract

Objectives: Combining of genomic data of different pathologies as a single phenotype has emerged as a useful strategy to identify genetic risk loci shared among immune-mediated diseases. Our study aimed to increase our knowledge of the genetic contribution to Kawasaki disease (KD) and IgA vasculitis (IgAV) by performing the first comprehensive large-scale analysis on the genetic overlap between them. Methods: A total of 1190 vasculitis patients and 11 302 healthy controls were analysed. First, in the discovery phase, genome-wide data of 405 KD patients and 6252 controls and 215 IgAV patients and 1324 controls, all of European origin, were combined using an inverse variance meta-analysis. Second, the top associated polymorphisms were selected for replication in additional independent cohorts (570 cases and 3726 controls). Polymorphisms with P-values ¿5 × 10-8 in the global IgAV-KD meta-analysis were considered as shared genetic risk loci. Results: A genetic variant, rs3743841, located in an intron of the NAGPA gene, reached genome-wide significance in the cross-disease meta-analysis (P = 8.06 × 10-10). Additionally, when IgAV was individually analysed, a strong association between rs3743841 and this vasculitis was also evident [P = 1.25 × 10-7; odds ratio = 1.47 (95% CI 1.27, 1.69)]. In silico functional annotation showed that this polymorphism acts as a regulatory variant modulating the expression levels of the NAGPA and SEC14L5 genes. Conclusion: We identified a new risk locus with pleiotropic effects on the two childhood vasculitides analysed. This locus represents the strongest non-HLA signal described for IgAV to date.

Published
2022

9. Biologicals in childhood severe asthma: the European PERMEABLE survey on the status quo

Author

Santos-Valente, Elisangela Buntrock-Dopke, Heike Abou Taam, Rola and Arasi, Stefania Bakirtas, Arzu Lozano Blasco, Jaime and Bonnelykke, Klaus Craiu, Mihai Cutrera, Renato Deschildre, Antoine Elnazir, Basil Fleming, Louise Frey, Urs Gappa, Monika Nieto Garcia, Antonio Hansen, Kirsten Skamstrup and Hanssens, Laurence Jahnz-Rozyk, Karina Jesenak, Milos and Kerzel, Sebastian Kopp, V, Matthias Koppelman, Gerard H. and Krivec, Uros MacLeod, Kenneth A. Makela, Mika Melen, Erik and Mezei, Gyorgyi Moeller, Alexander Moreira, Andre and Pohunek, Petr Minic, Predrag Rutjes, Niels W. P. Sammut, Patrick Schwerk, Nicolaus Szepfalusi, Zsolt Turkalj, Mirjana and Tzotcheva, Iren Ulmeanu, Alexandru Verhulst, Stijn and Xepapadaki, Paraskevi Niggel, Jakob Vijverberg, Susanne and Maitland-van der Zee, Anke H. Potocnik, Uros Reinartz, Susanne M. van Drunen, Cornelis M. Kabesch, Michael

Abstract

Introduction Severe asthma is a rare disease in children, for which three biologicals, anti-immunoglobulin E, anti-interleukin-5 and anti-IL4RA antibodies, are available in European countries. While global guidelines exist on who should receive biologicals, knowledge is lacking on how those guidelines are implemented in real life and which unmet needs exist in the field. In this survey, we aimed to investigate the status quo and identify open questions in biological therapy of childhood asthma across Europe. Methods Structured interviews regarding experience with biologicals, regulations on access to the different treatment options, drug selection, therapy success and discontinuation of therapy were performed. Content analysis was used to analyse data. Results We interviewed 37 experts from 25 European countries and Turkey and found a considerable range in the number of children treated with biologicals per centre. All participating countries provide public access to at least one biological. Most countries allow different medical disciplines to prescribe biologicals to children with asthma, and only a few restrict therapy to specialised centres. We observed significant variation in the time point at which treatment success is assessed, in therapy duration and in the success rate of discontinuation. Most participating centres intend to apply a personalised medicine approach in the future to match patients a priori to available biologicals. Conclusion Substantial differences exist in the management of childhood severe asthma across Europe, and the need for further studies on biomarkers supporting selection of biologicals, on criteria to assess therapy response and on how/when to end therapy in stable patients is evident.

Published
2021

10. Pre-treatment risk assessment of women with endometrial cancer: differences in outcomes of molecular and clinical classifications in the Slovenian patient cohort.

Author

Knez, Jure, Sobocan, Monika, Belak, Urska, Kavalar, Rajko, Zupin, Mateja, Büdefeld, Tomaz, Potocnik, Uros, and Takac, Iztok

Subjects
GENETIC mutation, SLOVENES, RISK assessment, MOLECULAR biology, CANCER patients, ENDOMETRIAL tumors, GENE expression profiling, DESCRIPTIVE statistics, LONGITUDINAL method, DISEASE risk factors
Abstract

The aim of this study was to evaluate changes in prognostic risk profiles of women with endometrial cancer by comparing the clinical risk assessment with the integrated molecular risk assessment profiling. This prospective study recruited patients with biopsy proven endometrial cancer treated at the University Medical Centre Maribor between January 2020 to February 2021. Patient clinical data was assessed and categorized according to the currently valid European Society of Gynaecological Oncology, European SocieTy for Radiotherapy and Oncology, and European Society of Pathology (ESGO/ESTRO/ESP) guidelines on endometrial cancer. Molecular tumour characterization included determination of exonuclease domain of DNA polymerase-epsilon (POLE) mutational status by Sanger sequencing and imunohistochemical specimen evaluation on the presence of mismatch repair deficiencies (MMRd) and p53 abnormalities (p53abn). Fourty-five women were included in the study. Twenty-two tumours were of non-specific mutational profile (NSMP) (56.4%), 13 were classified as MMRd (33.3%), 3 were classified as p53abn (7.7%) and 1 was classified as POLE mutated (2.6%). Six tumours (15.4%) had multiple molecular classifiers, these were studied separately and were not included in the risk assessment. The clinical risk-assessment classified 21 women (53.8%) as low-risk, 5 women (12.8%) as intermediate risk, 2 women as high-intermediate risk (5.1%), 10 women (25.6%) as high risk and 1 patient as advanced metastatic (2.6%). The integrated molecular classification changed risk for 4 women (10.3%). Integrated molecular risk improves personalized risk assessment in endometrial cancer and could potentially improve therapeutic precision. Further molecular stratification with biomarkers is especially needed in the NSMP group to improve personalized risk-assessment. [ABSTRACT FROM AUTHOR]

Published
2022
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11. 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
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12. Genome-Wide Association Study of Asthma Exacerbations in European Children Treated with Inhaled Corticosteroids

Author

Vijverberg, Susanne JH, Hernandez-Pacheco, Natalia, Farzan, Niloufar, Francis, Ben, Flores, Carlos, Schieck, Maximilian, Soares, Patricia, Karimi, Leila, Tavendale, Roger, Berce, Vojko, Repnik, Katja, Verhamme, Katia MC, Potocnik, Uros, Mukhopadhyay, Somnath, Pirmohamed, Munir, Palmer, Colin N, Turner, Steve W, Hawcutt, Daniel B, Kabesch, Michael, Pino-Yanes, Maria, and Maitland-van der Zee, Anke-Hilse

Published
2017

14. Relationship between genome and epigenome - challenges and requirements for future research

Author

Almouzni, Genevieve Altucci, Lucia Amati, Bruno Ashley, Neil and Baulcombe, David Beaujean, Nathalie Bock, Christoph and Bongcam-Rudloff, Erik Bousquet, Jean Braun, Sigurd and Bressac-de Paillerets, Brigitte Bussemakers, Marion Clarke, Laura Conesa, Ana Estivill, Xavier Fazeli, Alireza and Grgurevic, Neza Gut, Ivo Heijmans, Bastiaan T. Hermouet, Sylvie Houwing-Duistermaat, Jeanine Iacobucci, Ilaria Ilas, Janez Kandimalla, Raju Krauss-Etschmann, Susanne Lasko, Paul and Lehmann, Soeren Lindroth, Anders Majdic, Gregor and Marcotte, Eric Martinelli, Giovanni Martinet, Nadine Meyer, Eric Miceli, Cristina Mills, Ken Moreno-Villanueva, Maria and Morvan, Ghislaine Nickel, Doerthe Niesler, Beate and Nowacki, Mariusz Nowak, Jacek Ossowski, Stephan Pelizzola, Mattia Pochet, Roland Potocnik, Uros Radwanska, Magdalena and Raes, Jeroen Rattray, Magnus Robinson, Mark D. Roelen, Bernard Sauer, Sascha Schinzer, Dieter Slagboom, Eline and Spector, Tim Stunnenberg, Hendrik G. Tiligada, Ekaterini and Torres-Padilla, Maria-Elena Tsonaka, Roula Van Soom, Ann and Vidakovic, Melita Widschwendter, Martin

Abstract

Understanding the links between genetic, epigenetic and non-genetic factors throughout the lifespan and across generations and their role in disease susceptibility and disease progression offer entirely new avenues and solutions to major problems in our society. To overcome the numerous challenges, we have come up with nine major conclusions to set the vision for future policies and research agendas at the European level.

Published
2014

15. Relationship between genome and epigenome - challenges and requirements for future research

Author

Almouzni, G, Altucci, L, Amati, B, Ashley, N, Baulcombe, D, Beaujean, N, Bock, C, Bongcam-Rudloff, E, Bousquet, J, Braun, S, Paillerets Brigitte, B, Bussemakers, M, Clarke, L, Conesa, A, Estivill, X, Fazeli, A, Grgurevic, N, Gut, I, Heijmans Bastiaan, T, Hermouet, S, Houwing-Duistermaat, J, Iacobucci, I, Ilas, J, Kandimalla, R, Krauss-Etschmann, S, Lasko, P, Lehmann, S, Lindroth, A, Majdic, G, Marcotte, E, Martinelli, G, Martinet, N, Meyer, E, Miceli, C, Mills, K, Moreno-Villanueva, M, Morvan, G, Nickel, D, Niesler, B, Nowacki, M, Nowak, J, Ossowski, S, Pelizzola, M, Pochet, R, Potocnik, U, Radwanska, M, Raes, J, Rattray, M, Robinson Mark, D, Roelen, B, Sauer, S, Schinzer, D, Slagboom, E, Spector, T, Stunnenberg Hendrik, G, Tiligada, E, Torres-Padilla, M, Tsonaka, R, Soom Ann, V, Vidakovic, M, Widschwendter, M, Almouzni Genevieve, Altucci Lucia, Amati Bruno, Ashley Neil, Baulcombe David, Beaujean Nathalie, Bock Christoph, Bongcam-Rudloff Erik, Bousquet Jean, Braun Sigurd, Paillerets Brigitte Bressac-de, Bussemakers Marion, Clarke Laura, Conesa Ana, Estivill Xavier, Fazeli Alireza, Grgurevic NeZa, Gut Ivo, Heijmans Bastiaan T, Hermouet Sylvie, Houwing-Duistermaat Jeanine, Iacobucci Ilaria, Ilas Janez, Kandimalla Raju, Krauss-Etschmann Susanne, Lasko Paul, Lehmann Soren, Lindroth Anders, Majdic Gregor, Marcotte Eric, Martinelli Giovanni, Martinet Nadine, Meyer Eric, Miceli Cristina, Mills Ken, Moreno-Villanueva Maria, Morvan Ghislaine, Nickel Dorthe, Niesler Beate, Nowacki Mariusz, Nowak Jacek, Ossowski Stephan, Pelizzola M, Pochet Roland, Potocnik Uros, Radwanska Magdalena, Raes Jeroen, Rattray Magnus, Robinson Mark D, Roelen Bernard, Sauer Sascha, Schinzer Dieter, Slagboom Eline, Spector Tim, Stunnenberg Hendrik G, Tiligada Ekaterini, Torres-Padilla Maria-Elena, Tsonaka Roula, Soom Ann Van, Vidakovic Melita, Widschwendter Martin, Almouzni, G, Altucci, L, Amati, B, Ashley, N, Baulcombe, D, Beaujean, N, Bock, C, Bongcam-Rudloff, E, Bousquet, J, Braun, S, Paillerets Brigitte, B, Bussemakers, M, Clarke, L, Conesa, A, Estivill, X, Fazeli, A, Grgurevic, N, Gut, I, Heijmans Bastiaan, T, Hermouet, S, Houwing-Duistermaat, J, Iacobucci, I, Ilas, J, Kandimalla, R, Krauss-Etschmann, S, Lasko, P, Lehmann, S, Lindroth, A, Majdic, G, Marcotte, E, Martinelli, G, Martinet, N, Meyer, E, Miceli, C, Mills, K, Moreno-Villanueva, M, Morvan, G, Nickel, D, Niesler, B, Nowacki, M, Nowak, J, Ossowski, S, Pelizzola, M, Pochet, R, Potocnik, U, Radwanska, M, Raes, J, Rattray, M, Robinson Mark, D, Roelen, B, Sauer, S, Schinzer, D, Slagboom, E, Spector, T, Stunnenberg Hendrik, G, Tiligada, E, Torres-Padilla, M, Tsonaka, R, Soom Ann, V, Vidakovic, M, Widschwendter, M, Almouzni Genevieve, Altucci Lucia, Amati Bruno, Ashley Neil, Baulcombe David, Beaujean Nathalie, Bock Christoph, Bongcam-Rudloff Erik, Bousquet Jean, Braun Sigurd, Paillerets Brigitte Bressac-de, Bussemakers Marion, Clarke Laura, Conesa Ana, Estivill Xavier, Fazeli Alireza, Grgurevic NeZa, Gut Ivo, Heijmans Bastiaan T, Hermouet Sylvie, Houwing-Duistermaat Jeanine, Iacobucci Ilaria, Ilas Janez, Kandimalla Raju, Krauss-Etschmann Susanne, Lasko Paul, Lehmann Soren, Lindroth Anders, Majdic Gregor, Marcotte Eric, Martinelli Giovanni, Martinet Nadine, Meyer Eric, Miceli Cristina, Mills Ken, Moreno-Villanueva Maria, Morvan Ghislaine, Nickel Dorthe, Niesler Beate, Nowacki Mariusz, Nowak Jacek, Ossowski Stephan, Pelizzola M, Pochet Roland, Potocnik Uros, Radwanska Magdalena, Raes Jeroen, Rattray Magnus, Robinson Mark D, Roelen Bernard, Sauer Sascha, Schinzer Dieter, Slagboom Eline, Spector Tim, Stunnenberg Hendrik G, Tiligada Ekaterini, Torres-Padilla Maria-Elena, Tsonaka Roula, Soom Ann Van, Vidakovic Melita, and Widschwendter Martin

Abstract

Understanding the links between genetic, epigenetic and non-genetic factors throughout the lifespan and across generations and their role in disease susceptibility and disease progression offer entirely new avenues and solutions to major problems in our society. To overcome the numerous challenges, we have come up with nine major conclusions to set the vision for future policies and research agendas at the European level.

Published
2014

16. Limited Evidence for Parent-of-Origin Effects in Inflammatory Bowel Disease Associated Loci

Author

Fransen, Karin, primary, Mitrovic, Mitja, additional, van Diemen, Cleo C., additional, B.K., Thelma, additional, Sood, Ajit, additional, Franke, Andre, additional, Schreiber, Stefan, additional, Midha, Vandana, additional, Juyal, Garima, additional, Potocnik, Uros, additional, Fu, Jingyuan, additional, Nolte, Ilja, additional, and Weersma, Rinse K., additional

Published
2012
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