229
Views
58
CrossRef citations to date
0
Altmetric
ORIGINAL ARTICLE

Homozygosity for the CARD15 frameshift mutation 1007fs is predictive of early onset of Crohn's disease with ileal stenosis, entero-enteral fistulas, and frequent need for surgical intervention with high risk of re-stenosis

, , , MD, , , , , , , , , & show all
Pages 1421-1432 | Received 03 Jan 2006, Published online: 08 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (1)

Nita H. Salzman. (2010) Paneth cell defensins and the regulation of the microbiome. Gut Microbes 1:6, pages 401-406.
Read now

Articles from other publishers (57)

Noam Ben-Yosef, Matthew Frampton, Elena R Schiff, Saleh Daher, Fadi Abu Baker, Rifaat Safadi, Eran Israeli, Anthony W Segal & Adam P Levine. (2021) Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease. Gastroenterology Report 9:6, pages 521-532.
Crossref
Jerry T Dang, ThucNhi T Dang, Eytan Wine, Bryan Dicken, Karen Madsen & Michael Laffin. (2021) The Genetics of Postoperative Recurrence in Crohn Disease: A Systematic Review, Meta-analysis, and Framework for Future Work. Crohn's & Colitis 360 3:2.
Crossref
April L. Raftery, Evelyn Tsantikos, Nicola L. Harris & Margaret L. Hibbs. (2020) Links Between Inflammatory Bowel Disease and Chronic Obstructive Pulmonary Disease. Frontiers in Immunology 11.
Crossref
Fabian Schnitzler, Matthias Friedrich, Marianne Angelberger, Julia Diegelmann, Johannes Stallhofer, Christiane Wolf, Joel Dütschler, Samuel Truniger, Torsten Olszak, Florian Beigel, Cornelia Tillack, Peter Lohse & Stephan Brand. (2020) Development of a uniform, very aggressive disease phenotype in all homozygous carriers of the NOD2 mutation p.Leu1007fsX1008 with Crohn’s disease and active smoking status resulting in ileal stenosis requiring surgery. PLOS ONE 15:7, pages e0236421.
Crossref
Si-Nan Lin, Dan-Ping Zheng, Yun Qiu, Sheng-Hong Zhang, Yao He, Bai-Li Chen, Zhi-Rong Zeng, Ren Mao & Min-Hu Chen. (2020) Classifying Crohn’s disease into colon-involving versus non-colon-involving groups is a better predictor of clinical outcomes than the Montreal classification. Therapeutic Advances in Gastroenterology 13, pages 175628482096873.
Crossref
Francesco Giudici, Letizia Lombardelli, Edda Russo, Tiziana Cavalli, Daniela Zambonin, Federica Logiodice, Ornela Kullolli, Lamberto Giusti, Tatiana Bargellini, Marilena Fazi, Livia Biancone, Stefano Scaringi, Ann Maria Clemente, Eloisa Perissi, Giovanni Delfino, Maria G Torcia, Ferdinando Ficari, Francesco Tonelli, Marie-Pierre Piccinni & Cecilia Malentacchi. (2019) Multiplex gene expression profile in inflamed mucosa of patients with Crohn’s disease ileal localization: A pilot study. World Journal of Clinical Cases 7:17, pages 2463-2476.
Crossref
Ho-Su Lee & Isabelle Cleynen. (2019) Molecular Profiling of Inflammatory Bowel Disease: Is It Ready for Use in Clinical Decision-Making?. Cells 8:6, pages 535.
Crossref
Ho-Su Lee & Isabelle Cleynen. 2019. Molecular Genetics of Inflammatory Bowel Disease. Molecular Genetics of Inflammatory Bowel Disease 157 182 .
Patrick L. Stoner, Amir Kamel, Fares Ayoub, Sanda Tan, Atif Iqbal, Sarah C. Glover & Ellen M. Zimmermann. (2018) Perioperative Care of Patients with Inflammatory Bowel Disease: Focus on Nutritional Support. Gastroenterology Research and Practice 2018, pages 1-13.
Crossref
Bram Verstockt, Sare Verstockt & Isabelle Cleynen. 2018. Fibrostenotic Inflammatory Bowel Disease. Fibrostenotic Inflammatory Bowel Disease 13 38 .
Charles L. Bevins. 2017. Crohn's Disease and Ulcerative Colitis. Crohn's Disease and Ulcerative Colitis 75 86 .
Tabasum Sidiq, Sayuri Yoshihama, Isaac Downs & Koichi S. Kobayashi. (2016) Nod2: A Critical Regulator of Ileal Microbiota and Crohn’s Disease. Frontiers in Immunology 7.
Crossref
Alba Martinez-Chamorro, Antonia Moreno, María Gómez-García, María José Cabello, Javier Martin & Miguel Ángel Lopez-Nevot. (2016) Epistatic interaction between TLR4 and NOD2 in patients with Crohn’s Disease: relation with risk and phenotype in a Spanish cohort. Immunobiology 221:9, pages 927-933.
Crossref
Bram Verstockt & Isabelle Cleynen. (2016) Genetic Influences on the Development of Fibrosis in Crohn’s Disease. Frontiers in Medicine 3.
Crossref
Fabian Schnitzler, Matthias Friedrich, Christiane Wolf, Johannes Stallhofer, Marianne Angelberger, Julia Diegelmann, Torsten Olszak, Cornelia Tillack, Florian Beigel, Burkhard Göke, Jürgen Glas, Peter Lohse & Stephan Brand. (2015) The NOD2 Single Nucleotide Polymorphism rs72796353 (IVS4+10 A>C) Is a Predictor for Perianal Fistulas in Patients with Crohn's Disease in the Absence of Other NOD2 Mutations. PLOS ONE 10:7, pages e0116044.
Crossref
Barry Hall, Grainne Holleran & Deirdre McNamara. (2015) Small Bowel Crohn's Disease: An Emerging Disease Phenotype?. Digestive Diseases 33:1, pages 42-51.
Crossref
Fabian Schnitzler, Matthias Friedrich, Christiane Wolf, Marianne Angelberger, Julia Diegelmann, Torsten Olszak, Florian Beigel, Cornelia Tillack, Johannes Stallhofer, Burkhard Göke, Jürgen Glas, Peter Lohse & Stephan Brand. (2014) The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067. PLoS ONE 9:11, pages e108503.
Crossref
Paulo Freire, Ricardo Cardoso, Pedro Figueiredo, Maria M. Donato, Manuela Ferreira, Sofia Mendes, Ana Margarida Ferreira, Helena Vasconcelos, Francisco Portela & Carlos Sofia. (2014) NOD2 gene mutations in ulcerative colitis: useless or misunderstood?. International Journal of Colorectal Disease 29:6, pages 653-661.
Crossref
Séverine Vermeire, Marc Ferrante & Paul Rutgeerts. (2014) Republished: Recent advances: personalised use of current Crohn’s disease therapeutic options. Postgraduate Medical Journal 90:1061, pages 144-148.
Crossref
Lucia Hrnčířová, Jan Krejsek, Igor Šplíchal & Tomáš Hrnčíř. (2014) Crohn’s Disease: a Role of Gut Microbiota and Nod2 Gene Polymorphisms in Disease Pathogenesis. Acta Medica (Hradec Kralove, Czech Republic) 57:3, pages 89-96.
Crossref
Jose-Manuel Benitez & Edouard Louis. (2014) Can We Predict the High-Risk Patient?. Digestive Diseases 32:4, pages 328-336.
Crossref
Julia Diegelmann, Darina Czamara, Emmanuelle Le Bras, Eva Zimmermann, Torsten Olszak, Andrea Bedynek, Burkhard Göke, Andre Franke, Jürgen Glas & Stephan Brand. (2013) Intestinal DMBT1 Expression Is Modulated by Crohn’s Disease-Associated IL23R Variants and by a DMBT1 Variant Which Influences Binding of the Transcription Factors CREB1 and ATF-2. PLoS ONE 8:11, pages e77773.
Crossref
Stephan Brand. (2013) Moving the genetics of inflammatory bowel diseases from bench to bedside: first steps towards personalised medicine. Gut 62:11, pages 1531-1533.
Crossref
Isabelle Cleynen, Juan R González, Carolina Figueroa, Andre Franke, Dermot McGovern, Martin Bortlík, Bart J A Crusius, Maurizio Vecchi, Marta Artieda, Magdalena Szczypiorska, Johannes Bethge, David Arteta, Edgar Ayala, Silvio Danese, Ruud A van Hogezand, Julian Panés, Salvador Amado Peña, Milan Lukas, Derek P Jewell, Stefan Schreiber, Severine Vermeire & Miquel Sans. (2013) Genetic factors conferring an increased susceptibility to develop Crohn's disease also influence disease phenotype: results from the IBDchip European Project. Gut 62:11, pages 1556-1565.
Crossref
Séverine Vermeire, Marc Ferrante & Paul Rutgeerts. (2013) Recent advances: personalised use of current Crohn's disease therapeutic options. Gut 62:10, pages 1511-1515.
Crossref
Jacqueline G. Solon, John P. Burke, Stewart R. Walsh & J. Calvin Coffey. (2013) The Effect of NOD2 Polymorphism on Postsurgical Recurrence in Crohn’s Disease. Inflammatory Bowel Diseases 19:5, pages 1099-1105.
Crossref
Jürgen Glas, Julia Seiderer, Stephanie Bues, Johannes Stallhofer, Christoph Fries, Torsten Olszak, Eleni Tsekeri, Martin Wetzke, Florian Beigel, Christian Steib, Matthias Friedrich, Burkhard Göke, Julia Diegelmann, Darina Czamara & Stephan Brand. (2013) IRGM Variants and Susceptibility to Inflammatory Bowel Disease in the German Population. PLoS ONE 8:1, pages e54338.
Crossref
Isabelle Cleynen & Séverine Vermeire. 2013. Molecular Genetics of Inflammatory Bowel Disease. Molecular Genetics of Inflammatory Bowel Disease 151 169 .
Jürgen Glas, Julia Seiderer, Darina Czamara, Giulia Pasciuto, Julia Diegelmann, Martin Wetzke, Torsten Olszak, Christiane Wolf, Bertram Müller-Myhsok, Tobias Balschun, Jean-Paul Achkar, M. Ilyas Kamboh, Andre Franke, Richard H. Duerr & Stephan Brand. (2012) PTGER4 Expression-Modulating Polymorphisms in the 5p13.1 Region Predispose to Crohn's Disease and Affect NF-κB and XBP1 Binding Sites. PLoS ONE 7:12, pages e52873.
Crossref
Camille Jung, Jean-Frédéric Colombel, Marc Lemann, Laurent Beaugerie, Matthieu Allez, Jacques Cosnes, Gwenola Vernier-Massouille, Jean-Marc Gornet, Jean-Pierre Gendre, Jean-Pierre Cezard, Frank M. Ruemmele, Dominique Turck, Françoise Merlin, Habib Zouali, Christian Libersa, Philippe Dieudé, Nadem Soufir, Gilles Thomas & Jean-Pierre Hugot. (2012) Genotype/Phenotype Analyses for 53 Crohn’s Disease Associated Genetic Polymorphisms. PLoS ONE 7:12, pages e52223.
Crossref
Guillaume Savoye, Julia Salleron, Corinne Gower-Rousseau, Jean-Louis Dupas, Gwénola Vernier-Massouille, Mathurin Fumery, Véronique Merle, Eric Lerebours, Antoine Cortot, Dominique Turck, Jean-Louis Salomez, Marc Lemann, Jean-Frédéric Colombel & Alain Duhamel. (2012) Clinical predictors at diagnosis of disabling pediatric Crohnʼs disease. Inflammatory Bowel Diseases 18:11, pages 2072-2078.
Crossref
Jan Hendrik Niess, Jochen Klaus, Johannes Stephani, Carolin Pflüger, Nadine Degenkolb, Ulrike Spaniol, Benjamin Mayer, Georgia Lahr & Georg B. T. von Boyen. (2011) NOD2 Polymorphism Predicts Response to Treatment in Crohn’s Disease—First Steps to a Personalized Therapy. Digestive Diseases and Sciences 57:4, pages 879-886.
Crossref
Tony Bruns, Jack Peter, Philipp A. Reuken, Dominik H. Grabe, Sonja R. Schuldes, Julia Brenmoehl, Jürgen Schölmerich, Reiner Wiest & Andreas Stallmach. (2011) NOD2 gene variants are a risk factor for culture‐positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis . Liver International 32:2, pages 223-230.
Crossref
Stephan Brand. (2012) Homozygosity for The NOD2 P.Leu1007fsx1008 Variant Is the Main Genetic Predictor for Fibrostenotic Crohnʼs Disease. Inflammatory Bowel Diseases 18:2, pages 393-394.
Crossref
Fabian Schnitzler, Julia Seiderer, Johannes Stallhofer & Stephan Brand. (2012) Dominant Disease-Causing Effect of NOD2 Mutations in a Family with All Family Members Affected by Crohnʼs Disease. Inflammatory Bowel Diseases 18:2, pages 395-396.
Crossref
Charles L. Bevins. 2012. Crohn's Disease and Ulcerative Colitis. Crohn's Disease and Ulcerative Colitis 119 132 .
Charles L. Bevins & Nita H. Salzman. (2011) Paneth cells, antimicrobial peptides and maintenance of intestinal homeostasis. Nature Reviews Microbiology 9:5, pages 356-368.
Crossref
Jürgen Glas, Julia Seiderer, Christoph Fries, Cornelia Tillack, Simone Pfennig, Maria Weidinger, Florian Beigel, Torsten Olszak, Ulrich Lass, Burkhard Göke, Thomas Ochsenkühn, Christiane Wolf, Peter Lohse, Bertram Müller-Myhsok, Julia Diegelmann, Darina Czamara & Stephan Brand. (2011) CEACAM6 Gene Variants in Inflammatory Bowel Disease. PLoS ONE 6:4, pages e19319.
Crossref
Jeremy Adler, Sujal C Rangwalla, Ben A Dwamena & Peter DR Higgins. (2011) The Prognostic Power of the NOD2 Genotype for Complicated Crohn's Disease: A Meta-Analysis. American Journal of Gastroenterology 106:4, pages 699-712.
Crossref
Jürgen Glas, Julia Seiderer, Cornelia Tillack, Simone Pfennig, Florian Beigel, Matthias Jürgens, Torsten Olszak, Rüdiger P. Laubender, Maria Weidinger, Bertram Müller-Myhsok, Burkhard Göke, Thomas Ochsenkühn, Peter Lohse, Julia Diegelmann, Darina Czamara & Stephan Brand. (2010) The NOD2 Single Nucleotide Polymorphisms rs2066843 and rs2076756 Are Novel and Common Crohn's Disease Susceptibility Gene Variants. PLoS ONE 5:12, pages e14466.
Crossref
Matthias Jürgens, Stephan Brand, Rüdiger P. Laubender, Julia Seiderer, Jürgen Glas, Martin Wetzke, Johanna Wagner, Simone Pfennig, Cornelia Tillack, Florian Beigel, Maria Weidinger, Fabian Schnitzler, Martin E. Kreis, Burkhard Göke, Peter Lohse, Karin Herrmann & Thomas Ochsenkühn. (2010) The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn’s disease independent of the IL23R genotype. Journal of Gastroenterology 45:7, pages 721-731.
Crossref
Bruce E. Sands & Corey A. Siegel. 2010. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. Sleisenger and Fordtran's Gastrointestinal and Liver Disease 1941 1973.e9 .
Soichiro Yamamoto & Xiaojing Ma. (2009) Role of Nod2 in the development of Crohn's disease. Microbes and Infection 11:12, pages 912-918.
Crossref
Masayuki Fukata, Arunan S. Vamadevan & Maria T. Abreu. (2009) Toll-like receptors (TLRs) and Nod-like receptors (NLRs) in inflammatory disorders. Seminars in Immunology 21:4, pages 242-253.
Crossref
Jürgen Glas, Julia Seiderer, Giulia Pasciuto, Cornelia Tillack, Julia Diegelmann, Simone Pfennig, Astrid Konrad, Silke Schmechel, Martin Wetzke, Helga-Paula Török, Johannes Stallhofer, Matthias Jürgens, Thomas Griga, Wolfram Klein, Jörg T. Epplen, Uwe Schiemann, Thomas Mussack, Peter Lohse, Burkhard Göke, Thomas Ochsenkühn, Matthias Folwaczny, Bertram Müller-Myhsok & Stephan Brand. (2009) rs224136 on Chromosome 10q21.1 and Variants in PHOX2B, NCF4, and FAM92B Are Not Major Genetic Risk Factors for Susceptibility to Crohnʼs Disease in the German Population. American Journal of Gastroenterology 104:3, pages 665-672.
Crossref
Jürgen Glas, Julia Seiderer, Giulia Pasciuto, Cornelia Tillack, Julia Diegelmann, Simone Pfennig, Astrid Konrad, Silke Schmechel, Martin Wetzke, Helga-Paula Török, Johannes Stallhofer, Matthias Jürgens, Thomas Griga, Wolfram Klein, Jörg T Epplen, Uwe Schiemann, Thomas Mussack, Peter Lohse, Burkhard Göke, Thomas Ochsenkühn, Matthias Folwaczny, Bertram Müller-Myhsok & Stephan Brand. (2009) rs224136 on Chromosome 10q21.1 and Variants in PHOX2B, NCF4 and FAM92B Are Not Major Genetic Risk Factors for Susceptibility to Crohn's Disease in the German Population. The American Journal of Gastroenterology 104:3, pages 665-672.
Crossref
Cornelia Tillack, Julia Seiderer, Stephan Brand, Burkhard Göke, Maximilian F. Reiser, Claus Schaefer, Helmut Diepolder, Thomas Ochsenkühn & Karin A. Herrmann. (2008) Correlation of magnetic resonance enteroclysis (MRE) and wireless capsule endoscopy (CE) in the diagnosis of small bowel lesions in Crohnʼs disease. Inflammatory Bowel Diseases 14:9, pages 1219-1228.
Crossref
Vanessa Beynon, Sebastian Cotofana, Stephan Brand, Peter Lohse, Anja Mair, Stefanie Wagner, Thomas Mussack, Thomas Ochsenkühn, Matthias Folwaczny, Christian Folwaczny, Jürgen Glas & Helga-Paula Török. (2008) NOD2/CARD15 genotype influences MDP-induced cytokine release and basal IL-12p40 levels in primary isolated peripheral blood monocytes. Inflammatory Bowel Diseases 14:8, pages 1033-1040.
Crossref
Julia Seiderer, Julia Dambacher, Dorothea Leistner, Cornelia Tillack, Jürgen Glas, Jan-Hendrik Niess, Simone Pfennig, Matthias Jürgens, Bertram Müller-Myhsok, Burkhard Göke, Thomas Ochsenkühn, Peter Lohse, Hans-Christian Reinecker & Stephan Brand. (2008) Genotype–phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease. Clinical Immunology 127:1, pages 49-55.
Crossref
Jürgen Glas, Astrid Konrad, Silke Schmechel, Julia Dambacher, Julia Seiderer, Frieder Schroff, Martin Wetzke, Darina Roeske, Helga-Paula Török, Laurian Tonenchi, Simone Pfennig, Dirk Haller, Thomas Griga, Wolfram Klein, Jörg T. Epplen, Christian Folwaczny, Peter Lohse, Burkhard Göke, Thomas Ochsenkühn, Thomas Mussack, Matthias Folwaczny, Bertram Müller-Myhsok & Stephan Brand. (2008) The ATG16L1 Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population . The American Journal of Gastroenterology 103:3, pages 682-691.
Crossref
Silke Schmechel, Astrid Konrad, Julia Diegelmann, Jürgen Glas, Martin Wetzke, Ekaterini Paschos, Peter Lohse, Burkhard Göke & Stephan Brand. (2008) Linking genetic susceptibility to Crohnʼs disease with Th17 cell function: IL-22 serum levels are increased in Crohnʼs disease and correlate with disease activity and IL23R genotype status. Inflammatory Bowel Diseases 14:2, pages 204-212.
Crossref
Gerhard Rogler. (2007) The effects of NOD2/CARD15 mutations on the function of the intestinal barrier. Journal of Crohn's and Colitis 1:2, pages 53-60.
Crossref
Jürgen Glas, Julia Seiderer, Martin Wetzke, Astrid Konrad, Helga-Paula Török, Silke Schmechel, Laurian Tonenchi, Christine Grassl, Julia Dambacher, Simone Pfennig, Kerstin Maier, Thomas Griga, Wolfram Klein, Jörg T. Epplen, Uwe Schiemann, Christian Folwaczny, Peter Lohse, Burkhard Göke, Thomas Ochsenkühn, Bertram Müller-Myhsok, Matthias Folwaczny, Thomas Mussack & Stephan Brand. (2007) rs1004819 Is the Main Disease-Associated IL23R Variant in German Crohn's Disease Patients: Combined Analysis of IL23R, CARD15, and OCTN1/2 Variants. PLoS ONE 2:9, pages e819.
Crossref
J. Seiderer, J. Dambacher, B. Kühnlein, S. Pfennig, A. Konrad, H.‐P. Török, D. Haller, B. Göke, T. Ochsenkühn, P. Lohse & S. Brand. (2007) The role of the selenoprotein S ( SELS ) gene −105G>A promoter polymorphism in inflammatory bowel disease and regulation of SELS gene expression in intestinal inflammation . Tissue Antigens 70:3, pages 238-246.
Crossref
Dennis McGonagle, Sinisa Savic & Michael F. McDermott. (2007) The NLR network and the immunological disease continuum of adaptive and innate immune-mediated inflammation against self. Seminars in Immunopathology 29:3, pages 303-313.
Crossref
J. SEIDERER, S. BRAND, J. DAMBACHER, S. PFENNIG, M. JÜRGENS, B. GÖKE & T. OCHSENKÜHN. (2007) Adalimumab in patients with Crohn’s disease – safety and efficacy in an open‐label single centre study. Alimentary Pharmacology & Therapeutics 25:7, pages 787-796.
Crossref
D. THALMAIER, J. DAMBACHER, J. SEIDERER, A. KONRAD, V. SCHACHINGER, S. PFENNIG, J.‐M. OTTE, A. CRISPIN, B. GÖKE, T. OCHSENKÜHN, P. LOHSE & S. BRAND. (2006) The +1059G/C polymorphism in the C‐reactive protein (CRP) gene is associated with involvement of the terminal ileum and decreased serum CRP levels in patients with Crohn's disease. Alimentary Pharmacology & Therapeutics 24:7, pages 1105-1115.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.