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2. C13orf31 (FAMIN) is a central regulator of immunometabolic function

Author

Cader, M Zaeem, Boroviak, Katharina, Zhang, Qifeng, Assadi, Ghazaleh, Kempster, Sarah L, Sewell, Gavin W, Saveljeva, Svetlana, Ashcroft, Jonathan W, Clare, Simon, Mukhopadhyay, Subhankar, Brown, Karen P, Tschurtschenthaler, Markus, Raine, Tim, Doe, Brendan, Chilvers, Edwin R, Griffin, Jules L, Kaneider, Nicole C, Floto, R Andres, D'Amato, Mauro, Bradley, Allan, Wakelam, Michael J O, Dougan, Gordon, and Kaser, Arthur

Published
2016
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3. Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Author

Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Kuech, Eva-Maria, von Köckritz-Blickwede, Maren, Thingholm, Louise B, Zheng, Tenghao, Assadi, Ghazaleh, Dierks, Claudia, Heine, Martin, Philipp, Ute, Distl, Ottmar, Money, Mary E, Belheouane, Meriem, Heinsen, Femke-Anouska, Rafter, Joseph, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnus, Karling, Pontus, Ohlsson, Bodil, Schmidt, Peter T, Lindberg, Greger, Dlugosz, Aldona, Agreus, Lars, Andreasson, Anna, Mayer, Emeran, Baines, John F, Engstrand, Lars, Portincasa, Piero, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y, and DʼAmato, Mauro

Published
2018
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4. TRPM8 polymorphisms associated with increased risk of IBS-C and IBS-M

Author

Henström, Maria, Hadizadeh, Fatemeh, Beyder, Arthur, Bonfiglio, Ferdinando, Zheng, Tenghao, Assadi, Ghazaleh, Rafter, Joseph, Bujanda, Luis, Agreus, Lars, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T, Karling, Pontus, Ohlsson, Bodil, Talley, Nicholas J, Simren, Magnus, Walter, Susanna, Wouters, Mira, Farrugia, Gianrico, and DʼAmato, Mauro

Published
2017
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5. Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis

Author

Mellander, Marie-Rose, Bresso, Francesca, Munch, Andreas, Westerlind, Helga, Bonfiglio, Ferdinando, Assadi, Ghazaleh, Rafter, Joseph, Hübenthal, Matthias, Lieb, Wolfgang, Källberg, Henrik, Brynedal, Boel, Padyukov, Leonid, Halfvarson, Jonas, Törkvist, Leif, Bjork, Jan, Andreasson, Anna, Agreus, Lars, Almer, Sven, Miehlke, Stephan, Madisch, Ahmed, Ohlsson, Bodil, Löfberg, Robert, Hultcrantz, Rolf, Franke, Andre, and D’Amato, Mauro

Published
2017
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6. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

Author

Ek, Weronica E, Reznichenko, Anna, Ripke, Stephan, Niesler, Beate, Zucchelli, Marco, Rivera, Natalia V, Schmidt, Peter T, Pedersen, Nancy L, Magnusson, Patrik, Talley, Nicholas J, Holliday, Elizabeth G, Houghton, Lesley, Gazouli, Maria, Karamanolis, George, Rappold, Gudrun, Burwinkel, Barbara, Surowy, Harald, Rafter, Joseph, Assadi, Ghazaleh, Li, Ling, Papadaki, Evangelia, Gambaccini, Dario, Marchi, Santino, Colucci, Rocchina, Blandizzi, Corrado, Barbaro, Raffaella, Karling, Pontus, Walter, Susanna, Ohlsson, Bodil, Tornblom, Hans, Bresso, Francesca, Andreasson, Anna, Dlugosz, Aldona, Simren, Magnus, Agreus, Lars, Lindberg, Greger, Boeckxstaens, Guy, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Daly, Mark J, Camilleri, Michael, Wouters, Mira M, and DʼAmato, Mauro

Published
2015
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8. Human enteroendocrine cell responses to infection with Chlamydia trachomatis: a microarray study

Author

Dlugosz, Aldona, Muschiol, Sandra, Zakikhany, Katherina, Assadi, Ghazaleh, D'Amato, Mauro, and Lindberg, Greger

Subjects
Analysis, Physiological aspects, Research, Health aspects, Genes -- Analysis -- Health aspects -- Physiological aspects -- Research, Transcription (Genetics) -- Analysis -- Health aspects -- Physiological aspects -- Research, Biotechnology industries -- Analysis -- Health aspects -- Physiological aspects -- Research, Biotechnology industry -- Analysis -- Health aspects -- Physiological aspects -- Research, Genetic transcription -- Analysis -- Health aspects -- Physiological aspects -- Research
Abstract

Author(s): Aldona Dlugosz[sup.1] , Sandra Muschiol[sup.2] , Katherina Zakikhany[sup.3] , Ghazaleh Assadi[sup.4] , Mauro D'Amato[sup.4] and Greger Lindberg[sup.1] Background Enteroendocrine cells (EEC) are present in the gastrointestinal (GI) tract (mucosa [...], Background Enteroendocrine cells (EEC) are highly specialized cells producing signalling molecules vital to the normal functions of the gut. Recently, we showed altered protein distribution in Chlamydia infected EEC in vitro. The aim of this study was to perform a microarray analysis of the response pattern of EEC from both large and small bowel to infection in vitro, using Chlamydia trachomatis infection as a model. Methods Two human EEC lines: LCC-18, derived from a neuroendocrine colonic tumour, and CNDT-2, derived from a small intestinal carcinoid, were infected using cultured C. trachomatis serovar LGV II strain 434 (ATCC VR-902B). Penicillin G was used to induce persistent infection. We used microarray analysis (Affymetrix GeneChip[R]) for studying changes in gene expression at different stages of infection. Results Twenty-four hours after active and persistent infection, 66 and 411 genes in LCC-18 and 68 and 170 genes in CNDT-2 cells, respectively showed mean expression ratios >2-fold compared to non-infected cells. These genes encoded factors regulating apoptosis, cell differentiation, transcription regulation, cytokine activity, amine biosynthesis and vesicular transport. We found significant differences in gene transcription levels between persistently infected and non-infected cells in 10 genes coding for different solute carrier transporters (SLC) and in 5 genes related to endocrine function (GABARAPL1, GRIP1, DRD2, SYT5 and SYT7). Conclusions Infected EEC cells exhibit cell-type specific patterns related to vesicular transport, secretion and neurotransmitters. EEC play a pivotal role in regulation of gut motility and an impairment of enteroendocrine function can contribute to motility disorders. Keywords: Enteroendocrine cells, Chlamydia trachomatis, Infection, Microarray

Published
2014
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9. Targeted Analysis of Serum Proteins Encoded at Known Inflammatory Bowel Disease Risk Loci

Author

Drobin, Kimi, primary, Assadi, Ghazaleh, additional, Hong, Mun-Gwan, additional, Andersson, Eni, additional, Fredolini, Claudia, additional, Forsström, Björn, additional, Reznichenko, Anna, additional, Akhter, Tahmina, additional, Ek, Weronica E, additional, Bonfiglio, Ferdinando, additional, Hansen, Mark Berner, additional, Sandberg, Kristian, additional, Greco, Dario, additional, Repsilber, Dirk, additional, Schwenk, Jochen M, additional, D’Amato, Mauro, additional, and Halfvarson, Jonas, additional

Published
2018
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10. miR-16 and miR-103 impact 5-HT receptor signalling and correlate with symptom profile in irritable bowel syndrome

Author

Wohlfarth, Carolin, Schmitteckert, Stefanie, Härtle, Janina D., Houghton, Lesley A., Dweep, Harsh, Fortea, Marina, Assadi, Ghazaleh, Braun, Alexander, Mederer, Tanja, Pöhner, Sarina, Becker, Philip P., Fischer, Christine, Granzow, Martin, Mönnikes, Hubert, Mayer, Emeran A., Sayuk, Gregory, Boeckxstaens, Guy, Wouters, Mira M., Simrén, Magnus, Lindberg, Greger, Ohlsson, Bodil, Schmidt, Peter Thelin, Dlugosz, Aldona, Agreus, Lars, Andreasson, Anna, D'Amato, Mauro, Burwinkel, Barbara, Bermejo, Justo Lorenzo, Röth, Ralph, Lasitschka, Felix, Vicario Perez, Maria, Metzger, Marco, Santos, Javier, Rappold, Gudrun A., Martinez, Cristina, Niesler, Beate, and Universitat Autònoma de Barcelona

Published
2017

11. miR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome

Author

Wohlfarth, Carolin, primary, Schmitteckert, Stefanie, additional, Härtle, Janina D., additional, Houghton, Lesley A., additional, Dweep, Harsh, additional, Fortea, Marina, additional, Assadi, Ghazaleh, additional, Braun, Alexander, additional, Mederer, Tanja, additional, Pöhner, Sarina, additional, Becker, Philip P., additional, Fischer, Christine, additional, Granzow, Martin, additional, Mönnikes, Hubert, additional, Mayer, Emeran A., additional, Sayuk, Gregory, additional, Boeckxstaens, Guy, additional, Wouters, Mira M., additional, Simrén, Magnus, additional, Lindberg, Greger, additional, Ohlsson, Bodil, additional, Schmidt, Peter Thelin, additional, Dlugosz, Aldona, additional, Agreus, Lars, additional, Andreasson, Anna, additional, D’Amato, Mauro, additional, Burwinkel, Barbara, additional, Bermejo, Justo Lorenzo, additional, Röth, Ralph, additional, Lasitschka, Felix, additional, Vicario, Maria, additional, Metzger, Marco, additional, Santos, Javier, additional, Rappold, Gudrun A., additional, Martinez, Cristina, additional, and Niesler, Beate, additional

Published
2017
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12. Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing

Author

Bonora, Elena, primary, Bianco, Francesca, additional, Agnese, Stanzani, additional, Diquigiovanni, Chiara, additional, Rinaldi, Rita, additional, D'Angelo, Roberto, additional, Cogliandro, Rosanna, additional, Smith, Joshua D., additional, Nickerson, Deborah, additional, Bamshad, Mike, additional, Assadi, Ghazaleh, additional, Clavenzani, Paolo, additional, Lindberg, Greger, additional, D'Amato, Mauro, additional, Graziano, Claudio, additional, Stanghellini, Vincenzo, additional, Seri, Marco, additional, and De Giorgio, Roberto, additional

Published
2017
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13. Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis

Author

Westerlind, Helga, Mellander, Marie-Rose, Bresso, Francesca, Munch, Andreas, Bonfiglio, Ferdinando, Assadi, Ghazaleh, Rafter, Joseph, Huebenthal, Matthias, Lieb, Wolfgang, Kallberg, Henrik, Brynedal, Boel, Padyukov, Leonid, Halfvarson, Jonas, Törkvist, Leif, Björk, Jan, Andreasson, Anna, Agreus, Lars, Almer, Sven, Miehlke, Stephan, Madisch, Ahmed, Ohlsson, Bodil, Löfberg, Robert, Hultcrantz, Rolf, Franke, Andre, D'Amato, Mauro, Westerlind, Helga, Mellander, Marie-Rose, Bresso, Francesca, Munch, Andreas, Bonfiglio, Ferdinando, Assadi, Ghazaleh, Rafter, Joseph, Huebenthal, Matthias, Lieb, Wolfgang, Kallberg, Henrik, Brynedal, Boel, Padyukov, Leonid, Halfvarson, Jonas, Törkvist, Leif, Björk, Jan, Andreasson, Anna, Agreus, Lars, Almer, Sven, Miehlke, Stephan, Madisch, Ahmed, Ohlsson, Bodil, Löfberg, Robert, Hultcrantz, Rolf, Franke, Andre, and D'Amato, Mauro

Abstract

Objective: Collagenous colitis (CC) is a major cause of chronic non-bloody diarrhoea, particularly in the elderly female population. The aetiology of CC is unknown, and still poor is the understanding of its pathogenesis. This possibly involves dysregulated inflammation and immune-mediated reactions in genetically predisposed individuals, but the contribution of genetic factors to CC is underinvestigated. We systematically tested immune-related genes known to impact the risk of several autoimmune diseases for their potential CC-predisposing role. Design: Three independent cohorts of histologically confirmed CC cases (N=314) and controls (N=4299) from Sweden and Germany were included in a 2-step association analysis. Immunochip and targeted single nucleotide polymorphism (SNP) genotype data were produced, respectively, for discovery and replication purposes. Classical human leucocyte antigen (HLA) variants at 2-digit and 4-digit resolution were obtained via imputation from single marker genotypes. SNPs and HLA variants passing quality control filters were tested for association with CC with logistic regression adjusting for age, sex and country of origin. Results: Forty-two markers gave rise to genome-wide significant association signals, all contained within the HLA region on chromosome 6 (best p=4.2x10(-10) for SNP rs4143332). Among the HLA variants, most pronounced risk effects were observed for 8.1 haplotype alleles including DQ2.5, which was targeted and confirmed in the replication data set (p=2.3x10(-11); OR=2.06; 95% CI (1.67 to 2.55) in the combined analysis). Conclusions: HLA genotype associates with CC, thus implicating HLA-related immune mechanisms in its pathogenesis., Funding Agencies:Research Council of South-East Sweden (FORSS)County Council of Östergötland (ALF)Bengt Ihre's fondBengt Ihre Research FellowshipMagtarmfondenStockholm County Council 530084German Ministry of Education and Research (BMBF) through the e:Med consortium sysINFLAMEGerman Ministry for Education and Research 01EY1103European Union 262055

Published
2017
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14. Identification and functional characterization of gastrointestinal disease genes

Author

Assadi, Ghazaleh and Assadi, Ghazaleh

Abstract

The inflammatory bowel diseases (IBD) Crohn’s disease (CD) and ulcerative colitis (UC) are conditions characterized by chronic and relapsing inflammation of the gastrointestinal tract. IBD affects around 2.5 million people of European ancestry and the incidence is increasing worldwide (currently, 1% of the population suffers from IBD in Sweden). IBD patients require life-long medication, hospitalizations, recurring sick-leaves, surgical intervention and may acquire serious complications, such as colorectal cancer. There is as yet no definitive cure, and new treatment modalities are effective, but far from being optimal. A much greater understanding of IBD pathophysiology is therefore needed, in order to delineate improved therapeutic strategies, and to predict disease course and response to treatment. Although the etiology of IBDs is unknown, current consensus is that they occur in genetically predisposed individuals, primarily due to a dysregulated immune response to gut microbiota. IBD genetic research has highlighted the importance of innate immune interactions with the gut microbiota, the regulation of immune functions, the maintenance of gut epithelial barrier, and autophagy in order to maintain gut homeostasis. However, these discoveries have not yet led to the identification of novel pathogenetic pathways that may be amenable to exploitation for renewed therapeutic intervention. Eventually, this may come from the study of risk genes of unknown function. The overall aim of this thesis is the functional characterization of novel gastrointestinal disease genes, and in particular the Laccase (multicopper oxidoreductase) domain-containing 1 (LACC1) gene, in order to elucidate the mechanism(s) by which its genetic variation(s) contributes to IBD, and ultimately provide novel opportunities for therapeutic exploitation. In paper I, we tested a series of LACC1 common variants for association with disease in two Swedish cohorts of IBD and non-systemic juvenile idiopath

Published
2016

15. Functional Analyses of the Crohn's Disease Risk Gene LACC1

Author

Assadi, Ghazaleh, Vesterlund, Liselotte, Bonfiglio, Ferdinando, Mazzurana, Luca, Cordeddu, Lina, Schepis, Danika, Mjösberg, Jenny, Ruhrmann, Sabrina, Fabbri, Alessia, Vukojevic, Vladana, Percipalle, Piergiorgio, Salomons, Florian A., Laurencikiene, Jurga, Törkvist, Leif, Halfvarson, Jonas, D'Amato, Mauro, Assadi, Ghazaleh, Vesterlund, Liselotte, Bonfiglio, Ferdinando, Mazzurana, Luca, Cordeddu, Lina, Schepis, Danika, Mjösberg, Jenny, Ruhrmann, Sabrina, Fabbri, Alessia, Vukojevic, Vladana, Percipalle, Piergiorgio, Salomons, Florian A., Laurencikiene, Jurga, Törkvist, Leif, Halfvarson, Jonas, and D'Amato, Mauro

Abstract

Background Genetic variation in the Laccase (multicopper oxidoreductase) domain-containing 1 (LACC1) gene has been shown to affect the risk of Crohn's disease, leprosy and, more recently, ulcerative colitis and juvenile idiopathic arthritis. LACC1 function appears to promote fatty-acid oxidation, with concomitant inflammasome activation, reactive oxygen species production, and anti-bacterial responses in macrophages. We sought to contribute to elucidating LACC1 biological function by extensive characterization of its expression in human tissues and cells, and through preliminary analyses of the regulatory mechanisms driving such expression. Methods We implemented Western blot, quantitative real-time PCR, immunofluorescence microscopy, and flow cytometry analyses to investigate fatty acid metabolism-immune nexus (FAMIN; the LACC1 encoded protein) expression in subcellular compartments, cell lines and relevant human tissues. Gene-set enrichment analyses were performed to initially investigate modulatory mechanisms of LACC1 expression. A small-interference RNA knockdown in vitro model system was used to study the effect of FAMIN depletion on peroxisome function. Results FAMIN expression was detected in macrophage-differentiated THP-1 cells and several human tissues, being highest in neutrophils, monocytes/macrophages, myeloid and plasmacytoid dendritic cells among peripheral blood cells. Subcellular co-localization was exclusively confined to peroxisomes, with some additional positivity for organelle endomembrane structures. LACC1 co-expression signatures were enriched for genes involved in peroxisome proliferator-activated receptors (PPAR) signaling pathways, and PPAR ligands downregulated FAMIN expression in in vitro model systems. Conclusion FAMIN is a peroxisome-associated protein with primary role(s) in macrophages and other immune cells, where its metabolic functions may be modulated by PPAR signaling events. However, the precise molecular mechanisms through whic

Published
2016
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16. TRPM8polymorphisms associated with increased risk of IBS-C and IBS-M

Author

Henström, Maria, primary, Hadizadeh, Fatemeh, additional, Beyder, Arthur, additional, Bonfiglio, Ferdinando, additional, Zheng, Tenghao, additional, Assadi, Ghazaleh, additional, Rafter, Joseph, additional, Bujanda, Luis, additional, Agreus, Lars, additional, Andreasson, Anna, additional, Dlugosz, Aldona, additional, Lindberg, Greger, additional, Schmidt, Peter T, additional, Karling, Pontus, additional, Ohlsson, Bodil, additional, Talley, Nicholas J, additional, Simren, Magnus, additional, Walter, Susanna, additional, Wouters, Mira, additional, Farrugia, Gianrico, additional, and D'Amato, Mauro, additional

Published
2016
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17. Functional Analyses of the Crohn’s Disease Risk Gene LACC1

Author

Assadi, Ghazaleh, primary, Vesterlund, Liselotte, additional, Bonfiglio, Ferdinando, additional, Mazzurana, Luca, additional, Cordeddu, Lina, additional, Schepis, Danika, additional, Mjösberg, Jenny, additional, Ruhrmann, Sabrina, additional, Fabbri, Alessia, additional, Vukojevic, Vladana, additional, Percipalle, Piergiorgio, additional, Salomons, Florian A., additional, Laurencikiene, Jurga, additional, Törkvist, Leif, additional, Halfvarson, Jonas, additional, and D’Amato, Mauro, additional

Published
2016
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18. Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Author

Henström, Maria, primary, Diekmann, Lena, additional, Bonfiglio, Ferdinando, additional, Hadizadeh, Fatemeh, additional, Kuech, Eva-Maria, additional, von Köckritz-Blickwede, Maren, additional, Thingholm, Louise B, additional, Zheng, Tenghao, additional, Assadi, Ghazaleh, additional, Dierks, Claudia, additional, Heine, Martin, additional, Philipp, Ute, additional, Distl, Ottmar, additional, Money, Mary E, additional, Belheouane, Meriem, additional, Heinsen, Femke-Anouska, additional, Rafter, Joseph, additional, Nardone, Gerardo, additional, Cuomo, Rosario, additional, Usai-Satta, Paolo, additional, Galeazzi, Francesca, additional, Neri, Matteo, additional, Walter, Susanna, additional, Simrén, Magnus, additional, Karling, Pontus, additional, Ohlsson, Bodil, additional, Schmidt, Peter T, additional, Lindberg, Greger, additional, Dlugosz, Aldona, additional, Agreus, Lars, additional, Andreasson, Anna, additional, Mayer, Emeran, additional, Baines, John F, additional, Engstrand, Lars, additional, Portincasa, Piero, additional, Bellini, Massimo, additional, Stanghellini, Vincenzo, additional, Barbara, Giovanni, additional, Chang, Lin, additional, Camilleri, Michael, additional, Franke, Andre, additional, Naim, Hassan Y, additional, and D'Amato, Mauro, additional

Published
2016
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19. Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis

Author

Westerlind, Helga, primary, Mellander, Marie-Rose, additional, Bresso, Francesca, additional, Munch, Andreas, additional, Bonfiglio, Ferdinando, additional, Assadi, Ghazaleh, additional, Rafter, Joseph, additional, Hübenthal, Matthias, additional, Lieb, Wolfgang, additional, Källberg, Henrik, additional, Brynedal, Boel, additional, Padyukov, Leonid, additional, Halfvarson, Jonas, additional, Törkvist, Leif, additional, Bjork, Jan, additional, Andreasson, Anna, additional, Agreus, Lars, additional, Almer, Sven, additional, Miehlke, Stephan, additional, Madisch, Ahmed, additional, Ohlsson, Bodil, additional, Löfberg, Robert, additional, Hultcrantz, Rolf, additional, Franke, Andre, additional, and D'Amato, Mauro, additional

Published
2015
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20. 591 - Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing

Author

Bonora, Elena, Bianco, Francesca, Agnese, Stanzani, Diquigiovanni, Chiara, Rinaldi, Rita, D'Angelo, Roberto, Cogliandro, Rosanna, Smith, Joshua D., Nickerson, Deborah, Bamshad, Mike, Assadi, Ghazaleh, Clavenzani, Paolo, Lindberg, Greger, D'Amato, Mauro, Graziano, Claudio, Stanghellini, Vincenzo, Seri, Marco, and De Giorgio, Roberto

Published
2017
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21. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

Author

Ek, Weronica E, primary, Reznichenko, Anna, additional, Ripke, Stephan, additional, Niesler, Beate, additional, Zucchelli, Marco, additional, Rivera, Natalia V, additional, Schmidt, Peter T, additional, Pedersen, Nancy L, additional, Magnusson, Patrik, additional, Talley, Nicholas J, additional, Holliday, Elizabeth G, additional, Houghton, Lesley, additional, Gazouli, Maria, additional, Karamanolis, George, additional, Rappold, Gudrun, additional, Burwinkel, Barbara, additional, Surowy, Harald, additional, Rafter, Joseph, additional, Assadi, Ghazaleh, additional, Li, Ling, additional, Papadaki, Evangelia, additional, Gambaccini, Dario, additional, Marchi, Santino, additional, Colucci, Rocchina, additional, Blandizzi, Corrado, additional, Barbaro, Raffaella, additional, Karling, Pontus, additional, Walter, Susanna, additional, Ohlsson, Bodil, additional, Tornblom, Hans, additional, Bresso, Francesca, additional, Andreasson, Anna, additional, Dlugosz, Aldona, additional, Simren, Magnus, additional, Agreus, Lars, additional, Lindberg, Greger, additional, Boeckxstaens, Guy, additional, Bellini, Massimo, additional, Stanghellini, Vincenzo, additional, Barbara, Giovanni, additional, Daly, Mark J, additional, Camilleri, Michael, additional, Wouters, Mira M, additional, and D'Amato, Mauro, additional

Published
2014
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22. Su2083 Impaired miRNA Regulation as Molecular Cause of Altered 5-HT4 Receptor Signalling in Irritable Bowel Syndrome

Author

Wohlfarth, Carolin, primary, Härtle, Janina-Denise C., additional, Assadi, Ghazaleh, additional, Houghton, Lesley A., additional, Pöhner, Sarina, additional, Becker, Philip P., additional, Fischer, Christine, additional, Monnikes, Hubert, additional, Mayer, Emeran A., additional, Sayuk, Gregory S., additional, Boeckxstaens, Guy E., additional, Wouters, Mira M., additional, Simren, Magnus, additional, Lindberg, Greger, additional, Ohlsson, Bodil, additional, Schmidt, Peter T., additional, Dlugosz, Aldona, additional, Agreus, Lars, additional, Andreasson, Anna, additional, D'Amato, Mauro, additional, Burwinkel, Barbara, additional, Roeth, Ralph, additional, Lasitschka, Felix, additional, Rappold, Gudrun, additional, and Niesler, Beate, additional

Published
2014
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23. Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE)

Author

University of Helsinki, Institute of Clinical Medicine (-2009), University of Helsinki, Research Programs Unit, University of Helsinki, Haartman Institute (-2009), University of Helsinki, Faculty of Medicine (-2009), University of Helsinki, Department of Biological and Environmental Sciences (-2009), University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Hellquist, Anna, Zucchelli, Marco, Lindgren, Cecilia M., Saarialho-Kere, Ulpu, Järvinen, Tiina, Koskenmies, Sari, Julkunen, Heikki, Onkamo, Päivi, Skoog, Tiina, Panelius, Jaana, Räisänen-Sokolowski, Anne, Hasan, Taina, Widen, Elisabeth, Gunnarson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Assadi, Ghazaleh, Berglind, Linda, Mäkelä, Ville-Veikko, Kivinen, Katja, Wong, Andrew, Graham, Deborah S. Cunningham, Vyse, Timothy J., D'Amato, Mauro, Kere, Juha, University of Helsinki, Institute of Clinical Medicine (-2009), University of Helsinki, Research Programs Unit, University of Helsinki, Haartman Institute (-2009), University of Helsinki, Faculty of Medicine (-2009), University of Helsinki, Department of Biological and Environmental Sciences (-2009), University of Helsinki, Institute for Molecular Medicine Finland (FIMM), Hellquist, Anna, Zucchelli, Marco, Lindgren, Cecilia M., Saarialho-Kere, Ulpu, Järvinen, Tiina, Koskenmies, Sari, Julkunen, Heikki, Onkamo, Päivi, Skoog, Tiina, Panelius, Jaana, Räisänen-Sokolowski, Anne, Hasan, Taina, Widen, Elisabeth, Gunnarson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Assadi, Ghazaleh, Berglind, Linda, Mäkelä, Ville-Veikko, Kivinen, Katja, Wong, Andrew, Graham, Deborah S. Cunningham, Vyse, Timothy J., D'Amato, Mauro, and Kere, Juha

Published
2009

24. PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease

Author

Zucchelli, Marco, Torkvist, Leif, Bresso, Francesca, Halfvarson, Jonas, Hellquist, Anna, Anedda, Francesca, Assadi, Ghazaleh, Lindgren, Gunnar B, Svanfeldt, Monika, Janson, Martin, Noble, Colin L, Pettersson, Sven, Lappalainen, Maarit, Paavola-Sakki, Paulina, Halme, Leena, Färkkilä, Martti, Turunen, Ulla, Satsangi, Jack, Kontula, Kimmo, Löfberg, Robert, Kere, Juha, D'Amato, Mauro, Zucchelli, Marco, Torkvist, Leif, Bresso, Francesca, Halfvarson, Jonas, Hellquist, Anna, Anedda, Francesca, Assadi, Ghazaleh, Lindgren, Gunnar B, Svanfeldt, Monika, Janson, Martin, Noble, Colin L, Pettersson, Sven, Lappalainen, Maarit, Paavola-Sakki, Paulina, Halme, Leena, Färkkilä, Martti, Turunen, Ulla, Satsangi, Jack, Kontula, Kimmo, Löfberg, Robert, Kere, Juha, and D'Amato, Mauro

Abstract

BACKGROUND: Human polymorphisms affecting gut epithelial barrier and interactions with bacteria predispose to the inflammatory bowel diseases (IBD) Crohn's disease (CD) and ulcerative colitis (UC). The intestinal transporter PepT1, encoded by the SLC15A1 gene, mediates intracellular uptake of bacterial products that can induce inflammation and NF-kappaB activation upon binding to NOD2, a protein often mutated in CD. Hence, we tested SLC15A1 polymorphisms for association with IBD. METHODS: Twelve SLC15A1 single nucleotide polymorphisms (SNPs) were genotyped in 1783 individuals from 2 cohorts of Swedish and Finnish IBD patients and controls. An in vitro system was set up to evaluate the potential impact of SLC15A1 polymorphism on PepT1 transporter function by quantification of NOD2-mediated activation of NF-kappaB. RESULTS: The common allele (C) of a coding polymorphism (rs2297322, Ser117Asn) was associated with CD susceptibility both in Sweden and in Finland, but with genetic effects in opposite directions (risk and protection, respectively). The best evidence of association was found in both populations when the analysis was performed on individuals not carrying NOD2 common risk alleles (Sweden allelic P = 0.0007, OR 1.97, 95% confidence interval [CI] 1.34-2.92; Finland genotype P = 0.0013, OR 0.63, 95% CI 0.44-0.90). The PepT1 variant encoded by the C allele (PepT1-Ser117) was associated with reduced signaling downstream of NOD2 (P < 0.0001 compared to Pept1-Asn117). CONCLUSIONS: A functional polymorphism in the SLC15A1 gene might be of relevance to inflammation and antibacterial responses in IBD. Whether this polymorphism truly contributes to disease susceptibility needs to be further addressed, and should stimulate additional studies in other populations.

Published
2009
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25. Identification of MAMDC1 as a Candidate Susceptibility Gene for Systemic Lupus Erythematosus (SLE)

Author

Hellquist, Anna, primary, Zucchelli, Marco, additional, Lindgren, Cecilia M., additional, Saarialho-Kere, Ulpu, additional, Järvinen, Tiina M., additional, Koskenmies, Sari, additional, Julkunen, Heikki, additional, Onkamo, Päivi, additional, Skoog, Tiina, additional, Panelius, Jaana, additional, Räisänen-Sokolowski, Anne, additional, Hasan, Taina, additional, Widen, Elisabeth, additional, Gunnarson, Iva, additional, Svenungsson, Elisabet, additional, Padyukov, Leonid, additional, Assadi, Ghazaleh, additional, Berglind, Linda, additional, Mäkelä, Ville-Veikko, additional, Kivinen, Katja, additional, Wong, Andrew, additional, Cunningham Graham, Deborah S., additional, Vyse, Timothy J., additional, D'Amato, Mauro, additional, and Kere, Juha, additional

Published
2009
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26. PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease

Author

Zucchelli, Marco, primary, Torkvist, Leif, additional, Bresso, Francesca, additional, Halfvarson, Jonas, additional, Hellquist, Anna, additional, Anedda, Francesca, additional, Assadi, Ghazaleh, additional, Lindgren, Gunnar B., additional, Svanfeldt, Monika, additional, Janson, Martin, additional, Noble, Colin L., additional, Pettersson, Sven, additional, Lappalainen, Maarit, additional, Paavola-Sakki, Paulina, additional, Halme, Leena, additional, Färkkilä, Martti, additional, Turunen, Ulla, additional, Satsangi, Jack, additional, Kontula, Kimmo, additional, Löfberg, Robert, additional, Kere, Juha, additional, and DʼAmato, Mauro, additional

Published
2009
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27. TRPM8polymorphisms associated with increased risk of IBS-C and IBS-M

Author

Henstrom, Maria, Hadizadeh, Fatemeh, Beyder, Arthur, Bonfiglio, Ferdinando, Zheng, Tenghao, Assadi, Ghazaleh, Rafter, Joseph, Bujanda, Luis, Agreus, Lars, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T, Karling, Pontus, Ohlsson, Bodil, Talley, Nicholas J, Simren, Magnus, Walter, Susanna, Wouters, Mira, Farrugia, Gianrico, and D'Amato, Mauro

Published
2017
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28. Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome

Author

Karling, Pontus, Neri, Matteo, Kuech, Eva-Maria, DIstl, Ottmar, Von Köckritz-Blickwede, Maren, Chang, Lin, Portincasa, Piero, Franke, Andre, Henström, Maria, Lindberg, Greger, Assadi, Ghazaleh, Simrén, Magnus, Usai-Satta, Paolo, Diekmann, Lena, DIerks, Claudia, Engstrand, Lars, Hadizadeh, Fatemeh, D'Amato, Mauro, Nardone, Gerardo, Schmidt, Peter T., Stanghellini, Vincenzo, Dlugosz, Aldona, Money, Mary E., Barbara, Giovanni, Zheng, Tenghao, Cuomo, Rosario, Bonfiglio, Ferdinando, Heinsen, Femke-Anouska, Heine, Martin, Ohlsson, Bodil, Galeazzi, Francesca, Naim, Hassan Y., Mayer, Emeran, Baines, John F., Rafter, Joseph, Andreasson, Anna, Agreus, Lars, Camilleri, Michael, Walter, Susanna, Bellini, Massimo, Belheouane, Meriem, Philipp, Ute, and Thingholm, Louise B

Subjects
2. Zero hunger, 3. Good health
Abstract

IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase-isomaltase (SI) gene variants for their potential relevance in IBS. We sequenced SI exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common SI coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. We studied the effect of the 15Val to 15Phe substitution on SI function in vitro. We analysed p.Val15Phe genotype in relation to IBS status, stool frequency and faecal microbiota composition in 250 individuals from the general population. CSID mutations were more common in patients than asymptomatic controls (p=0.074; OR=1.84) and Exome Aggregation Consortium reference sequenced individuals (p=0.020; OR=1.57). 15Phe was detected in 6/7 sequenced familial cases, and increased IBS risk in case-control and population-based cohorts, with best evidence for diarrhoea phenotypes (combined p=0.00012; OR=1.36). In the population-based sample, 15Phe allele dosage correlated with stool frequency (p=0.026) and Parabacteroides faecal microbiota abundance (p=0.0024). The SI protein with 15Phe exhibited 35% reduced enzymatic activity in vitro compared with 15Val (p

29. Targeted analysis of serum proteins encoded at known inflammatory bowel disease risk loci

Author

Drobin, Kimi, Assadi, Ghazaleh, Hong, Mun-Gwan, Andersson, Eni, Fredolini, Claudia, Forsström, Björn, Reznichenko, Anna, Akhter, Tahmina, Ek, Weronica, Bonfiglio, Ferdinando, Berner Hansen, Mark, Sandberg, Kristian, Greco, Dario, Repsilber, Dirk, Schwenk, Jochen, D'Amato, Mauro, Halfvarson, Jonas, Drobin, Kimi, Assadi, Ghazaleh, Hong, Mun-Gwan, Andersson, Eni, Fredolini, Claudia, Forsström, Björn, Reznichenko, Anna, Akhter, Tahmina, Ek, Weronica, Bonfiglio, Ferdinando, Berner Hansen, Mark, Sandberg, Kristian, Greco, Dario, Repsilber, Dirk, Schwenk, Jochen, D'Amato, Mauro, and Halfvarson, Jonas

Abstract

QC 20180418

30. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome

Author

Piero Portincasa, Fatemeh Hadizadeh, Gerardo Nardone, Giovanni Barbara, Lars Engstrand, Ghazaleh Assadi, Anna Andreasson, Louise B. Thingholm, Emeran A. Mayer, Lars Agréus, Lena Diekmann, John F. Baines, Martin Heine, Mauro D'Amato, Rosario Cuomo, Ottmar Distl, Ute Philipp, Aldona Dlugosz, Vincenzo Stanghellini, Magnus Simrén, Pontus Karling, Eva Maria Kuech, Andre Franke, C. Dierks, Matteo Neri, Michael Camilleri, Maria Henström, Maren von Köckritz-Blickwede, Ferdinando Bonfiglio, Susanna Walter, Hassan Y. Naim, Bodil Ohlsson, Mary E. Money, Greger Lindberg, Meriem Belheouane, Peter T. Schmidt, Lin Chang, Joseph Rafter, Paolo Usai-Satta, Francesca Galeazzi, Massimo Bellini, Femke-Anouska Heinsen, Tenghao Zheng, Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Kuech, Eva Maria, von Köckritz Blickwede, Maren, Thingholm, Louise B, Zheng, Tenghao, Assadi, Ghazaleh, Dierks, Claudia, Heine, Martin, Philipp, Ute, Distl, Ottmar, Money, Mary E, Belheouane, Meriem, Heinsen, Femke Anouska, Rafter, Joseph, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T, Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F, Engstrand, Lar, Portincasa, Piero, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y, D'Amato, Mauro, Kuech, Eva-Maria, von Köckritz-Blickwede, Maren, Thingholm, Louise B., Money, Mary E., Heinsen, Femke-Anouska, Nardone, Gerardo, Usai-Satta, Paolo, Schmidt, Peter T., Baines, John F., and Naim, Hassan Y.

Subjects
Male, DNA Mutational Analysis, Gene Dosage, DIARRHOEA, Bioinformatics, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animals, Carbohydrate Metabolism, Inborn Errors, Case-Control Studies, Cell Line, Cell Membrane, Defecation, Diarrhea, Exons, Feces, Female, Genotype, Haplorhini, Humans, Irritable Bowel Syndrome, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Sucrase-Isomaltase Complex, Transfection, Gastroenterology, Sucrase-isomaltase complex, Pathogenesis, 0302 clinical medicine, Irritable bowel syndrome, 2. Zero hunger, Genetics, Inborn Errors, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Medical genetics, Carbohydrate Metabolism, 030211 gastroenterology & hepatology, medicine.symptom, Sucrase-isomaltase, medicine.medical_specialty, Gastroenterology and Hepatology, Biology, Gene dosage, Neurogastroenterology, 03 medical and health sciences, medicine, Gastroenterologi, Polymorphism, Case-control study, medicine.disease
Abstract

ObjectiveIBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase–isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase–isomaltase (SI) gene variants for their potential relevance in IBS.DesignWe sequenced SI exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common SI coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. We studied the effect of the 15Val to 15Phe substitution on SI function in vitro. We analysed p.Val15Phe genotype in relation to IBS status, stool frequency and faecal microbiota composition in 250 individuals from the general population.ResultsCSID mutations were more common in patients than asymptomatic controls (p=0.074; OR=1.84) and Exome Aggregation Consortium reference sequenced individuals (p=0.020; OR=1.57). 15Phe was detected in 6/7 sequenced familial cases, and increased IBS risk in case–control and population-based cohorts, with best evidence for diarrhoea phenotypes (combined p=0.00012; OR=1.36). In the population-based sample, 15Phe allele dosage correlated with stool frequency (p=0.026) and Parabacteroides faecal microbiota abundance (p=0.0024). The SI protein with 15Phe exhibited 35% reduced enzymatic activity in vitro compared with 15Val (pConclusionsSI gene variants coding for disaccharidases with defective or reduced enzymatic activity predispose to IBS. This may help the identification of individuals at risk, and contribute to personalising treatment options in a subset of patients.

Published
2018

31. Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing

Author

Chiara Diquigiovanni, Mauro D'Amato, Marco Seri, Paolo Clavenzani, Elena Bonora, Rita Rinaldi, Joshua D. Smith, Ghazaleh Assadi, Roberto D'Angelo, Roberto De Giorgio, Rosanna Cogliandro, Francesca Bianco, Michael J. Bamshad, Stanzani Agnese, Greger Lindberg, Claudio Graziano, Deborah A. Nickerson, Vincenzo Stanghellini, Bonora, Elena, Bianco, Francesca, Stanzani, Agnese, Diquigiovanni, Chiara, Rinaldi, Rita, D'Angelo, Roberto, Cogliandro, ROSANNA FRANCESCA, Smith, Joshua D., Nickerson, Deborah, Bamshad, Mike, Assadi, Ghazaleh, Clavenzani, Paolo, Lindberg, Greger, D'Amato, Mauro, Graziano, Claudio, Stanghellini, Vincenzo, Seri, Marco, and DE GIORGIO, Roberto

Subjects
Intestinal pseudo-obstruction, Hepatology, Gastroenterology, medicine, Computational biology, Biology, medicine.disease, Chronic Intestinal Pseudo-Obstruction, DNA sequencing
Published
2017

32. miR-16 and miR-103 impact 5-HT 4 receptor signalling and correlate with symptom profile in irritable bowel syndrome.

Author

Wohlfarth C, Schmitteckert S, Härtle JD, Houghton LA, Dweep H, Fortea M, Assadi G, Braun A, Mederer T, Pöhner S, Becker PP, Fischer C, Granzow M, Mönnikes H, Mayer EA, Sayuk G, Boeckxstaens G, Wouters MM, Simrén M, Lindberg G, Ohlsson B, Schmidt PT, Dlugosz A, Agreus L, Andreasson A, D'Amato M, Burwinkel B, Bermejo JL, Röth R, Lasitschka F, Vicario M, Metzger M, Santos J, Rappold GA, Martinez C, and Niesler B

Subjects
Diarrhea, Down-Regulation, Gene Expression Regulation, Genetic Association Studies, Humans, Irritable Bowel Syndrome metabolism, Jejunum pathology, Mutation genetics, Phenotype, Polymorphism, Single Nucleotide, Protein Binding genetics, Quality of Life, Receptors, Serotonin, 5-HT4 metabolism, Signal Transduction, Work Performance, Irritable Bowel Syndrome genetics, Jejunum metabolism, MicroRNAs genetics, Receptors, Serotonin, 5-HT4 genetics
Abstract

Irritable bowel syndrome (IBS) is a gut-brain disorder involving alterations in intestinal sensitivity and motility. Serotonin 5-HT 4 receptors are promising candidates in IBS pathophysiology since they regulate gut motor function and stool consistency, and targeted 5-HT 4 R selective drug intervention has been proven beneficial in subgroups of patients. We identified a single nucleotide polymorphism (SNP) (rs201253747) c.*61 T > C within the 5-HT 4 receptor gene HTR4 to be predominantly present in diarrhoea-IBS patients (IBS-D). It affects a binding site for the miR-16 family and miR-103/miR-107 within the isoforms HTR4b/i and putatively impairs HTR4 expression. Subsequent miRNA-profiling revealed downregulation of miR-16 and miR-103 in the jejunum of IBS-D patients correlating with symptoms. In vitro assays confirmed expression regulation via three 3'UTR binding sites. The novel isoform HTR4b&#95;2 lacking two of the three miRNA binding sites escapes miR-16/103/107 regulation in SNP carriers. We provide the first evidence that HTR4 expression is fine-tuned by miRNAs, and that this regulation is impaired either by the SNP c.*61 T > C or by diminished levels of miR-16 and miR-103 suggesting that HTR4 might be involved in the development of IBS-D.

Published
2017
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33. Dense genotyping of immune-related loci identifies HLA variants associated with increased risk of collagenous colitis.

Author

Westerlind H, Mellander MR, Bresso F, Munch A, Bonfiglio F, Assadi G, Rafter J, Hübenthal M, Lieb W, Källberg H, Brynedal B, Padyukov L, Halfvarson J, Törkvist L, Bjork J, Andreasson A, Agreus L, Almer S, Miehlke S, Madisch A, Ohlsson B, Löfberg R, Hultcrantz R, Franke A, and D'Amato M

Subjects
Aged, Alleles, Case-Control Studies, Chromosomes, Human, Pair 6, Female, Genotyping Techniques, Haplotypes, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Colitis, Collagenous genetics, Colitis, Collagenous immunology, Genetic Loci, Genetic Predisposition to Disease, HLA Antigens genetics, HLA Antigens immunology
Abstract

Objective: Collagenous colitis (CC) is a major cause of chronic non-bloody diarrhoea, particularly in the elderly female population. The aetiology of CC is unknown, and still poor is the understanding of its pathogenesis. This possibly involves dysregulated inflammation and immune-mediated reactions in genetically predisposed individuals, but the contribution of genetic factors to CC is underinvestigated. We systematically tested immune-related genes known to impact the risk of several autoimmune diseases for their potential CC-predisposing role., Design: Three independent cohorts of histologically confirmed CC cases (N=314) and controls (N=4299) from Sweden and Germany were included in a 2-step association analysis. Immunochip and targeted single nucleotide polymorphism (SNP) genotype data were produced, respectively, for discovery and replication purposes. Classical human leucocyte antigen (HLA) variants at 2-digit and 4-digit resolution were obtained via imputation from single marker genotypes. SNPs and HLA variants passing quality control filters were tested for association with CC with logistic regression adjusting for age, sex and country of origin., Results: Forty-two markers gave rise to genome-wide significant association signals, all contained within the HLA region on chromosome 6 (best p=4.2×10 -10 for SNP rs4143332). Among the HLA variants, most pronounced risk effects were observed for 8.1 haplotype alleles including DQ2.5, which was targeted and confirmed in the replication data set (p=2.3×10 -11 ; OR=2.06; 95% CI (1.67 to 2.55) in the combined analysis)., Conclusions: HLA genotype associates with CC, thus implicating HLA-related immune mechanisms in its pathogenesis., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

Published
2017
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