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  • Title: NOD2/CARD15 mutation analysis and genotype-phenotype correlation in Jewish pediatric patients compared with adults with Crohn's disease.
    Author: Weiss B, Shamir R, Bujanover Y, Waterman M, Hartman C, Fradkin A, Berkowitz D, Weintraub I, Eliakim R, Karban A.
    Journal: J Pediatr; 2004 Aug; 145(2):208-12. PubMed ID: 15289769.
    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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