TITLE

CARD4/NOD1 is not involved in inflammatory bowel disease

AUTHOR(S)
Zouali, H.; Lesage, S.; Merlin, F.; Cézard, J.-P.; Colombel, J.-F.; Belaiche, J.; Almer, S.; Tysk, C.; O'Morain, C.; Gassull, M.; Christensen, S.; Finkel, Y.; Modigliani, R.; Gower-Rousseau, C.; Macry, J.; Chamaillard, M.; Thomas, G.; Hugot, J.-P.
PUB. DATE
January 2003
SOURCE
Gut;Jan2003, Vol. 52 Issue 1, p71
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Background and aims: Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are complex genetic disorders. CARD15/NOD2, a member of the Ced4 superfamily which includes Apaf-1 and CARD4/NOD1, has recently been associated with genetic predisposition to CD but additional genetic factors remain to be identified. Because CARD4/NOD1 shares many structural and functional similarities with CARD15, we tested its putative role in IBD. Patients and methods: The 11 exons of CARD4 were screened for the presence of variants in 63 unrelated IBD patients. The only non-private genetic variation encoding for a substitution in the peptidic chain was genotyped in 381 IBD families (235 CD, 58 UC, 81 mixed, and seven indeterminate colitis families) using a polymerase chain reaction-restriction fragment length polymorphism procedure. Genotyping data were analysed by the transmission disequilibrium test. Results: Five of nine sequence variations identified in the coding sequence of the gene encoded for non-conservative changes (E266K, D372N, R705Q, T787M, and T787K). Four were present in only one family. The remaining variant (E266K), which exhibited an allele frequency of 0.28, was not associated with CD, UC, or IBD. Furthermore, IBD patients carrying sequence variations in their CARD4 gene had a similar phenotype to those with a normal sequence. Conclusion: Our results suggest that CARD4 does not play a major role in genetic susceptibility to IBD.
ACCESSION #
9758409

 

Related Articles

  • PTPN2 Gene Variants Are Associated with Susceptibility to Both Crohn's Disease and Ulcerative Colitis Supporting a Common Genetic Disease Background. Glas, J�rgen; Wagner, Johanna; Seiderer, Julia; Olszak, Torsten; Wetzke, Martin; Beigel, Florian; Tillack, Cornelia; Stallhofer, Johannes; Friedrich, Matthias; Steib, Christian; G�ke, Burkhard; Ochsenk�hn, Thomas; Karbalai, Nazanin; Diegelmann, Julia; Czamara, Darina; Brand, Stephan // PLoS ONE;Mar2012, Vol. 7 Issue 3, p1 

    Background: Genome-wide association studies identified PTPN2 (protein tyrosine phosphatase, non-receptor type 2) as susceptibility gene for inflammatory bowel diseases (IBD). However, the exact role of PTPN2 in Crohn's disease (CD) and ulcerative colitis (UC) and its phenotypic effect are...

  • CD209 in inflammatory bowel disease: a case-control study in the Spanish population. Núñez, Concepción; Oliver, Javier; Mendoza, Juan Luis; Gómez-García, María; Taxonera, Carlos; Gómez, Luis M.; López-Nevot, Miguel A.; de la Concha, Emilio G.; Urcelay, Elena; Martínez, Alfonso; Martín, Javier // BMC Medical Genetics;2007 Supplement 1, Vol. 8, p75 

    Background: The etiology of Ulcerative Colitis (UC) and Crohn's Disease (CD), considered together as Inflammatory Bowel Diseases (IBD), involves environmental and genetic factors. Although some genes are already known, the genetics underlying these diseases is complex and new candidates are...

  • Current concept of pathophysiological understanding and natural course of ulcerative colitis. Holtmann, Martin; Galle, Peter // Langenbeck's Archives of Surgery;Oct2004, Vol. 389 Issue 5, p341 

    Introduction: According to the current paradigm both ulcerative colitis (UC) and Crohn's disease (CD) result from a complex interplay of genetic susceptibility factors, environmental factors, alterations of the physiological intestinal flora and a defective regulation of the intestinal immune...

  • PTPN2 Gene Variants Are Associated with Susceptibility to Both Crohn's Disease and Ulcerative Colitis Supporting a Common Genetic Disease Background. Glas, Jürgen; Wagner, Johanna; Seiderer, Julia; Olszak, Torsten; Wetzke, Martin; Beigel, Florian; Tillack, Cornelia; Stallhofer, Johannes; Friedrich, Matthias; Steib, Christian; Göke, Burkhard; Ochsenkühn, Thomas; Karbalai, Nazanin; Diegelmann, Julia; Czamara, Darina; Brand, Stephan // PLoS ONE;Mar2012, Vol. 7 Issue 3, p1 

    Background: Genome-wide association studies identified PTPN2 (protein tyrosine phosphatase, non-receptor type 2) as susceptibility gene for inflammatory bowel diseases (IBD). However, the exact role of PTPN2 in Crohn's disease (CD) and ulcerative colitis (UC) and its phenotypic effect are...

  • Fenotipo e historia natural de la enfermedad inflamatoria intestinal en un centro de referencia en Medell�n-Colombia. Ba�os, Fabi�n Juliao; V�lez, Mario Hern�n Ruiz; Arango, Jos� Fernando Fl�rez; G�mez, Jorge Hernando Donado; Zuluaga, Juan Ignacio Mar�n; Arango, Claudia Monsalve; G�mez, Carlos Andr�s Jim�nez; Zapata, Yineth Agudelo; Velayos, Fernando S. // Revista Colombiana de Gastroenterolog�a;Jul2012, Vol. 25 Issue 3, p240 

    Worldwide the frequencies of inflammatory bowel disease, ulcerative colitis and Crohn�s disease have all increased. In our own environment it has become necessary to establish the epidemiology of these entities and to determine their clinical and endoscopic behavior. Methodology: This is a...

  • In siblings with similar genetic susceptibility for inflammatory bowel disease, smokers tend to develop Crohn's disease and non-smokers develop ulcerative colitis. Bridger, S.; Lee, J.C.W.; Bjarnason, I.; Lennard Jones, J.E.; Macpherson, A.J. // Gut;Jul2002, Vol. 51 Issue 1, p21 

    Background and aims: Smoking tobacco has opposite effects on the different forms of inflammatory bowel disease (IBD). It predisposes to the development of Crohn's disease (CD) yet is associated with a reduced incidence of ulcerative colitis (UC). We have studied sib pairs discordant for both...

  • Inflammatory bowel disease. O'Malley, John; Spinks, Julian // Pulse;5/25/2011, Vol. 71 Issue 19, p16 

    The article presents questions and answers related to irritable bowel syndrome (IBS) and inflammatory bowel disease (IBD), including the diagnostic process of IBD, what drug therapy to treat Crohn's disease, and the risk of cancer with ulcerative colitis.

  • Inflammatory bowel diseases.  // Mayo Clinic Health Letter;Oct2001, Vol. 19 Issue 10, p1 

    Discusses inflammatory bowel diseases. Etiology; Difference between Crohn's disease and ulcerative colitis; Signs and symptoms; Diagnostic techniques; Cancer risks; Treatment strategies. INSET: Colon cancer risks..

  • Kallikrein-kinin system activation in Crohn’s disease: differences in intestinal and systemic markers Devani, Massimo; Cugno, Massimo; Vecchi, Maurizio; Ferrero, Stefano; Di Berardino, Federica; Avesani, Ettore Contessini; de Franchis, Roberto; Colman, Robert W. // American Journal of Gastroenterology;Aug2002, Vol. 97 Issue 8, p2026 

    OBJECTIVES:Observations in experimental models and in human ulcerative colitis suggest that activation of the kallikrein-kinin system plays a role in the pathogenesis of inflammatory bowel disease. The aim of this study was to assess activation of the plasma and tissue kallikrein-kinin system in...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sign out of this library

Other Topics