4.4 Article

CARD15/NOD2 in a Tunisian population with Crohn's disease

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DIGESTIVE DISEASES AND SCIENCES
卷 50, 期 1, 页码 130-135

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SPRINGER
DOI: 10.1007/s10620-005-1290-0

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Crohn's disease; NOD2/CARD15 gene; human; Tunisia

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Crohn's disease (CD) is a heterogeneous disorder. A genetic linkage to chromosome 16 (IBDI) has been previously observed and replicated in unrelated populations. Recently, in this region, NOD2/CARD15 has been identified as a susceptibility gene. The aim of this report is to determine whether this gene is implicated in CD in a Tunisian population. One hundred thirty patients with CD and 90 healthy individuals were genotyped for the three common NOD2 variants (C2104T in exon 4, G2722C in exon 8, and 3020insC in exon 11). Furthermore, the 11 exons of the NOD2 gene were sequenced in 20 patients with CD. Results showed that the frequency of the CARD15 variants in the Tunisian population is significantly lower than that observed in the European and American population. Direct sequencing of CARD15 did not permit us to identify a characteristic mutation in our population. No association was confirmed between CD and the NOD2 gene in our Tunisian population. Furthermore, the NOD2/CARD15 gene has a variable association with CD in different populations. These results indicate the genetic variation of CD in different ethnic groups.

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