Z Gastroenterol 2004; 42 - 99
DOI: 10.1055/s-2004-827000

The examination of the mutations in the NOD2 gene in Hungarian Crohn's disease patients and healthy controls

Z Nagy 1, O Karádi 1, G Rumi 3, G Rumi 1, A Pár 1, G Mózsik 1, G Sütő 2
  • 11st Department of Medicine, University of Pécs, Medical Faculty, Pécs
  • 2Department of Immunology and Rheumatology, University of Pécs, Medical Faculty, Pécs
  • 3Kaposi Mór Hospital, Kaposvár

Introduction: The development of Crohn's disease is influenced by genetic, autoimmun and environmental factors. The inflammatory bowel disease is linked to 8 gene loci (IBD1–8). Most notable is the association of the NOD2 gene in IBD1 locus to Crohn's disease. Certain polymorphisms of the NOD2 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC) are most common in Crohn's disease. NOD2 is a disease-resistance gene and regulator of the response to lipopolysaccharides found in bacteria.

Aim: The allele frequency of the Gly908Arg and Leu1007fsinsC mutations were evaluated in Crohn's disease patients and healthy controls.

Methods: 74 Crohn's disease patients and 107 controls were examined. To detect the Gly908Arg mutation after the polymerase chain reaction the DNA sequence was digested by the mutation specific HhaI restriction enzyme. The Leu1007fsinsC mutation was detected with polymerase chain reaction using sequence specific primers. The allele frequencies of the groups were compared with Χ2 analysis.

Results: The allele frequency of the Gly908Arg mutation in the Crohn's disease patients (2.74%) and controls (1.4%) did not differ significantly. The allele frequency of the Leu1007fsinsC mutation was higher in patients (8.95%) then in controls (2.8%).

Conclusions: Carriage of the Leu1007fsinsC allele in NOD2 gene is associated with Crohn's disease. The examination of the disease susceptibility genes could potentially lead to understanding of the contribution of environmental factors to intestinal inflammation. The study was supported by grants of OTKA F042912, F037639 and ETT 098/2001.