NOD2/CARD15 mutation analysis and genotype-phenotype correlation in Jewish pediatric patients compared with adults with Crohn's disease

J Pediatr. 2004 Aug;145(2):208-12. doi: 10.1016/j.jpeds.2004.05.024.


Objectives: The allelic variants in the NOD2/CARD15 gene G908R, R702W, and 1007fs are strongly and independently associated with susceptibility to Crohn's disease (CD). Our aim was to compare the NOD2/CARD15 genotype and the genotype-phenotype correlation in Jewish pediatric patients with CD (</=16 years of age) with older patients with CD.

Study design: Carrier frequencies of the three variants were determined in 67 children and 144 adults with CD. Variants were detected by using allele-specific polymerase chain reaction and restriction enzyme digestion assay. Demographic and phenotypic characterizations of the patients were determined.

Results: The carrier rate of the three NOD2/CARD15-associated variants was 51.5% in children and 37.5% in adults (P=.07). The most prevalent allele variant was G908R (allele frequency 18% in children, 11% in adults; P=.063). Young Ashkenazi patients had the highest allele frequency of G908R, and higher than Ashkenazi adults: 25% and 9%, respectively (P=.003). Children had more family history of inflammatory bowel disease and more inflammatory-type disease, with no relation to variant allele carriage.

Conclusions: G908R allele-variant of the NOD2/CARD15 gene is closely related with the appearance of CD at a young age in Jewish Ashkenazi patients.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Alleles
  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Crohn Disease / genetics*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins*
  • Jews
  • Male
  • Middle Aged
  • Nod2 Signaling Adaptor Protein
  • Phenotype


  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein