NOD2/CARD15 gene polymorphism in patients with inflammatory bowel disease: is Hungary different?
OBJECTIVE
To analyse the impact of NOD2/CARD15 mutations on the clinical course of Crohn's disease patients from an eastern European country (Hungary).


METHODS
We investigated the prevalence of the three common NOD2/CARD15 mutations (Arg702Trp, Gly908Arg, 1007finsC) in 148 patients with Crohn's disease, 128 patients with ulcerative colitis and 208 controls recruited from the University of Szeged, Hungary. In patients with Crohn's disease, the prevalence of NOD2/CARD15 mutations was correlated to the demographical and clinical parameters.


RESULTS
In total, 32.4% of Crohn's disease patients carried at least one mutant allele within NOD2/CARD15 compared to 13.2% of patients with ulcerative colitis (P = 0.0002) and to 11.5% of controls (P<0.0001). In Crohn's disease patients, the allele frequencies for Arg702Trp, Gly908Arg and 1007finsC were 7.1%, 3.0% and 10.8% respectively. Interestingly, only the 1007finsC mutation was associated with a distinct clinical phenotype. The patients positive for the 1007finsC mutation suffered more frequently from stenotic disease behaviour (P = 0.008). Furthermore, 51.9% of patients positive for the 1007finsC mutation underwent a surgical resection within the ileum compared to only 17.4% of patients without the 1007finsC mutation (P = 0.001). With respect to the other two mutations (Arg702Trp and Gly908Arg), no associations were found with all investigated clinical parameters.


CONCLUSIONS
NOD2/CARD15 mutations are frequently found in Crohn's disease patients from Hungary. The 1007finsC mutation is associated with stenotic disease behaviour and frequent ileal resections.
Büning
Carsten
C
Department of Gastroenterology, Hepatology and Endocrinology, Charité Campus Mitte, Berlin, Germany. carsten.buening@charite.de
Molnar
Tomas
T
Nagy
Ferenc
F
Lonovics
Janos
J
Weltrich
Renita
R
Bochow
Bettina
B
Genschel
Janine
J
Schmidt
Hartmut
H
Lochs
Herbert
H
D000293:Adolescent; D000328:Adult; D001120:Arginine; D003251:Constriction, Pathologic; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005998:Glycine; D006801:Humans; D006814:Hungary; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007438:Introns; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein; D010641:Phenotype; D011110:Polymorphism, Genetic; D014364:Tryptophan
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D014364:Tryptophan; D001120:Arginine; D005998:Glycine