engleski

NOD2/CARD15 mutation in Croatian children with Crohn's disease

BACKGROUND: Crohn's disease (CD) is a multifactorial chronic inflammatory disorder of the gastrointestinal tract, characterized by heterogenecity in clinical picture and in the extent of disease. Mutations in the NOD2/CARD15 gene, identified on the chromosome 16, have been implicated in disease pathogenesis but are found in only about 25% of patients. Three sequence variants, all single nucleotide polymorphisms (SNPs), have been identified in North-American and European populations. Also, recent studies have shown some genotype/phenotype concordance, and therefore genotyping may have a potential clinical value. However, there are no reports on prevalence of NOD2 mutations in Croatian children with CD so far. AIMS AND METHODS: The prevalence of NOD2 mutations was determined in 14 children with CD and 14 healthy controls, matched by age and sex, who all gave an informed consent. All patients and controls were genotyped for Arg702Trp (Hugot SNP8), Gly908Arg (Hugot SNP12), and Leu1007fsinsC (Hugot SNP13). Allele frequencies in CD patients vs. controls were also determined. Finally, we examined the correlation of NOD2 genotypes with the phenotypic expression of CD. RESULTS: NOD2 variants were found in 7 of 14 (50%) CD patients and in only one healthy control (7%) (p=0.012). Allele frequencies in CD patiens were for SNP8 21.4%, SNP12 7.1% and SNP13 28.6% and in controls 7.1%, 0% and 0% respectively (p=0.28, p=0.31, p=0.03). One patient was compound heterozygot, while three patients were single risk allele homozygots. Ileocolic distribution was predominant in 78.6% (11) of our patients, two patients had only ileum and one had only colon affected. NOD2 variants were not significantly associated with the localization of the disease (p=0.58). CONCLUSIONS: Our data, although from the limited number of pediatric CD patients have demonstrated a markedly increased prevalence of NOD2/CARD15 mutations. However, no significant concordance with the extent/localization of the disease could be found.

NOD2/CARD15 mutation in Croatian children with Crohn's disease

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