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

The Journal of Pediatrics
Publication Date
DOI: 10.1016/j.jpeds.2004.05.024
  • Biology
  • Design
  • Medicine


Abstract 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.

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