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Genotype–phenotype associations of polymorphisms within the gene locus of NOD-like receptor pyrin domain containing 3 in Swiss inflammatory bowel disease patients

2021; BioMed Central; Volume: 21; Issue: 1 Linguagem: Inglês

10.1186/s12876-021-01880-9

1471-230X

Priyatharsan Yoganathan, Jean‐Benoît Rossel, Sebastian Bruno Ulrich Jordi, Yannick Franc, Luc Biedermann, Benjamin Misselwitz, Martin Hausmann, Gerhard Rogler, Michael Scharl, Isabelle Frey‐Wagner, Karim Abdelrahman, Gentiana Ademi, Patrick Aepli, Amman Thomas, Claudia Anderegg, Anca-Teodora Antonino, Eva Archanioti, Eviano Arrigoni, Diana Bakker de Jong, Bruno M. Balsiger, Polat Bastürk, Peter Bauerfeind, Andrea Becocci, Dominique C. Belli, José M. Bengoa, Luc Biedermann, Janek Binek, Mirjam Blattmann, Stephan Boehm, Tujana Boldanova, Jan Borovicka, Christian Braegger, Stephan Brand, Lukas Brügger, Simon Brunner, Patrick Bühr, Bernard Burnand, Sabine Burk, Emanuel Burri, Sophie Buyse, Dahlia-Thao Cao, Ove Carstens, Dominique Criblez, Sophie Cunningham, Fabrizia D’Angelo, Philippe de Saussure, Lukas Degen, Joakim Delarive, Christopher Doerig, Barbara Dora, Susan Drerup, Mara Egger, Ali El-Wafa, Matthias Engelmann, Jessica Ezri, Christian Felley, Markus Fliegner, Nicolas Fournier, Montserrat Fraga, Yannick Franc, Pascal Frei, Remus Frei, Michael Fried, Florian Froehlich, Raoul I. Furlano, Luca Garzoni, Martin Geyer, Laurent Girard, Marc Girardin, Delphine Golay, Ignaz Good, Ulrike Graf Bigler, Beat Gysi, Johannes Haarer, Marcel Halama, Janine Haldemann, Pius Heer, Benjamin Heimgartner, Beat Helbling, Peter Hengstler, Denise Herzog, Cyrill Hess, Roxane Hessler, Klaas Heyland, Thomas Hinterleitner, Claudia Hirschi, Petr Hrúz, Pascal Juillerat, Carolina Khalid-de Bakker, Stephan Kayser, Céline Keller, Christina Knellwolf, Christoph Knoblauch, Henrik Köhler, Rebekka Koller, Claudia Krieger, Patrizia Künzler‐Heule, Rachel Kusche, Frank Serge Lehmann, Andrew J. Macpherson, Michel H. Maillard, Markus G. Manz, Astrid Marot, Rémy Meier, Christa Meyenberger, Pamela A. Meyer, Pierre Michetti, Benjamin Misselwitz, Patrick Mosler, Christian Mottet, Christoph Müller, Beat Müllhaupt, Leilla Musso, Michaela Neagu, Cristina Nichita, Jan Hendrik Niess, Andreas Nydegger, Nicole Obialo, Diana Ollo, Cassandra Oropesa, Ulrich Peter, Daniel Peternac, Laetitia Marie Petit, Valérie Pittet, Daniel Pohl, Marc Porzner, Claudia Preissler, Nadia Raschle, Ronald Rentsch, Alexandre Restellini, Sophie Restellini, Jean-Pierre Richterich, Frédéric Ris, Branislav Risti, Marc Alain Ritz, Gerhard Rogler, Nina Röhrich, Jean‐Benoît Rossel, Vanessa Rueger, Monica Rusticeanu, Markus Sagmeister, Gaby Saner, Bernhard Sauter, Mikael Sawatzki, Michael Scharl, Martin Schelling, Susanne Schibli, Hugo Schlauri, Dominique Schluckebier, Daniela Schmid, Sybille Schmid, Jean-François Schnegg, Alain Schoepfer, Vivianne Seematter, Frank Seibold, Mariam Seirafi, Gian-Marco Semadeni, Arne Senning, Christiane Sokollik, Joachim R. Sommer, Johannes Spalinger, Holger Spangenberger, Philippe Stadler, Peter Staub, Dominic Staudenmann, Volker Stenz, Michael Steuerwald, Alex Straumann, Bruno Strebel, Andreas Stulz, Michael Christian Sulz, Aurora Tatu, Michela Tempia-Caliera, Joël Thorens, Kaspar Truninger, Radu Țuțuian, Patrick Urfer, Stephan R. Vavricka, Francesco Viani, Jürg Vögtlin, Roland von Känel, Dominique Vouillamoz, Rachel Vulliamy, Paul Wiesel, Reiner Wiest, Stefanie Wöhrle, Samuel A. Zamora, Silvan Zander, Tina Wylie, Jonas Zeitz, Dorothee Zimmermann,

Autoimmune and Inflammatory Disorders Research

Genetic variations within the regulatory region of the gene encoding NOD-like receptor pyrin domain containing 3 (NLRP3) have been associated with Crohn's Disease (CD). NLRP3 is part of the NLRP3-inflammasome that mediates the maturation of IL-1β and IL-18. Carrying the major allele of the single nucleotide polymorphisms (SNPs) rs10733113, rs4353135 and rs55646866 is associated with an increased risk for CD. We here studied the impact of these polymorphisms on clinical characteristics in patients of the Swiss IBD Cohort Study (SIBDCS).We included 981 Crohn's disease (CD) patients and 690 ulcerative colitis (UC) patients of the SIBDCS. We analyzed whether three CD-associated NLRP3 polymorphisms have an impact on the clinical disease course in these patients.In CD patients presence of the major allele (G) of rs10733113 was associated with less surgeries and lower maximal CDAI and a similar trend was observed for rs55646866 and rs4353135. Presence of the major allele of all three SNPs was negatively correlated to maximal CDAI. In UC patients homozygous genotype for the major allele (CC) for rs55646866 was associated with a higher age at diagnosis and a higher MTWAI index. Homozygous genotype for the major allele of all three polymorphisms was associated with a higher number of ambulatory visits and longer hospital stays.In CD patients presence of the major allele of all three polymorphisms was associated with markers of a less severe disease course, while in UC the homozygous genotype for all major alleles suggested a more severe disease activity.