NOD2/CARD15 mutations and phenotypic expression of Crohn’s disease in Malta

Abstract

Background: Crohn’s disease (CD) is a chronic inflammatory disorder of the gastrointestinal tract with variations in localization and behaviour. Mutations in the NOD2/CARD15 gene on chromosome 16q have been implicated in the pathogenesis of the disease and three main sequence variants, all single nucleotide polymorphisms (SNPs), have been identified in North American and European populations. Data from mainland Europe has demonstrated a prevalence of 25-50% within CD patients. The genetic structure of the Maltese population includes Near Eastern Arab, Mediterranean and North African genetic components.peer-reviewe

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