Role of the NFKB1 −94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN genes
Corresponding Author
Jürgen Glas MD, MSc
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Poliklinik für Zahnerhaltung und Parodontologie, Germany
University Hospital of the University of Munich, Department of Surgery Innenstadt, Nussbaumstrasse 20, 80336 München, GermanySearch for more papers by this authorHelga-Paula Török MD
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorLaurian Tonenchi
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Poliklinik für Zahnerhaltung und Parodontologie, Germany
Search for more papers by this authorBertram Müller-Myhsok MD
Statistische Genetik, Max-Planck-Institut für Psychiatrie, München, Germany
Search for more papers by this authorThomas Mussack MD
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorMartin Wetzke
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorWolfram Klein MD
Abteilung Humangenetik, Ruhr-Universität Bochum, Bochum, Germany
Search for more papers by this authorJoerg T. Epplen MD
Abteilung Humangenetik, Ruhr-Universität Bochum, Bochum, Germany
Search for more papers by this authorThomas Griga MD
Medizinische Klinik/Innere Medizin, Knappschaftskrankenhaus Dortmund, Dortmund, Germany
Search for more papers by this authorUwe Schiemann MD
Klinik für Allgemeine Innere Medizin, Inselspital Bern, Bern, Germany
Search for more papers by this authorPeter Lohse MD
Institut für Klinische Chemie-Grosshadern, München, Germany
Search for more papers by this authorJulia Seiderer MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorFabian Schnitzler MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorStephan Brand MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorThomas Ochsenkühn MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorMatthias Folwaczny MD, DMD
Poliklinik für Zahnerhaltung und Parodontologie, Germany
Search for more papers by this authorChristian Folwaczny MD
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorCorresponding Author
Jürgen Glas MD, MSc
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Poliklinik für Zahnerhaltung und Parodontologie, Germany
University Hospital of the University of Munich, Department of Surgery Innenstadt, Nussbaumstrasse 20, 80336 München, GermanySearch for more papers by this authorHelga-Paula Török MD
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorLaurian Tonenchi
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Poliklinik für Zahnerhaltung und Parodontologie, Germany
Search for more papers by this authorBertram Müller-Myhsok MD
Statistische Genetik, Max-Planck-Institut für Psychiatrie, München, Germany
Search for more papers by this authorThomas Mussack MD
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorMartin Wetzke
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorWolfram Klein MD
Abteilung Humangenetik, Ruhr-Universität Bochum, Bochum, Germany
Search for more papers by this authorJoerg T. Epplen MD
Abteilung Humangenetik, Ruhr-Universität Bochum, Bochum, Germany
Search for more papers by this authorThomas Griga MD
Medizinische Klinik/Innere Medizin, Knappschaftskrankenhaus Dortmund, Dortmund, Germany
Search for more papers by this authorUwe Schiemann MD
Klinik für Allgemeine Innere Medizin, Inselspital Bern, Bern, Germany
Search for more papers by this authorPeter Lohse MD
Institut für Klinische Chemie-Grosshadern, München, Germany
Search for more papers by this authorJulia Seiderer MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorFabian Schnitzler MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorStephan Brand MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorThomas Ochsenkühn MD
Medizinische Klinik und Poliklinik II-Grosshadern, Klinikum der Universität München, München, München, Germany
Search for more papers by this authorMatthias Folwaczny MD, DMD
Poliklinik für Zahnerhaltung und Parodontologie, Germany
Search for more papers by this authorChristian Folwaczny MD
Chirurgische Klinik und Poliklinik-Innenstadt, München, Germany
Search for more papers by this authorAbstract
Background: Recently, an association of the NFKB1 polymorphism −94ins/delATTG with ulcerative colitis (UC) has been reported. This 4-bp insertion/deletion polymorphism is localized in the promoter region of the NFKB1 gene and appears to be functionally relevant. The aim of the present study was to confirm the association of the −94ins/delATTG (W/D) NFKB1 promoter polymorphism with UC in a population of German origin and to test for a potential association with Crohn's disease (CD). Furthermore, potential interactions of the −94ins/delATTG polymorphism with the IKBL and the IL-1RN genes should be determined. Materials and Methods: The study population comprised 630 patients with CD, 365 patients with UC, and 974 healthy controls. Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism analysis. For statistical evaluation, the chi-square test and the Fisher exact test were used. Results: No significant association of the W/D NFKB1 polymorphism with CD or UC was detected. In addition, no significant interactions between the −94ins/delATTG NFKB1 polymorphism and polymorphisms within the IKBL and the IL-1RN genes, respectively, were found in CD or UC. Also, no significant interactions of the NFKB1 polymorphism with mutations of the CARD15/NOD2 gene and with clinical phenotypes were detected in CD. Moreover, no associations of the NFKB1 polymorphism were found in UC depending on disease localization. Conclusions: The present study could not confirm the reported association of the −94ins/delATTG NFKB1 polymorphism with UC and also found no evidence for a role of this polymorphism in CD. The results do not give evidence for a role of this NFKB1 polymorphism in the pathogenesis of UC and CD.
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