Abstract

RODRIGO, L. et al. CARD15 mutations are poorly related to Crohn´s disease phenotypes in Asturias. Rev. esp. enferm. dig. [online]. 2007, vol.99, n.10, pp.570-575. ISSN 1130-0108.

Background: the association between the three common CARD15 gene mutations (R702W, G908R, L1007fs) and the genetic susceptibility to Crohn's disease (CD) have been confirmed by several studies, with some differences found, in relation to geographic areas and ethnic groups. Objectives: To analyze the prevalence of CARD15 gen and its polymorphisms in patients with CD in Asturias and its possible correlation with the different genotypes of the disease. Methods: a total of 216 CD patients recruited from Asturias (North of Spain) and 86 ethnically matched healthy controls, were typed using Hybprobes on a LightCycler instrument for CARD15 mutations. Patients were subdivided according to Vienna classification. We have studied the frequency of these mutations in the different subgroups of CD patients and analyzed its contribution to the disease clinical characteristics and progression. Results: carrier frequencies for CARD15 mutations in our CD patients were similar to controls (17.8 vs. 17.4%) respectively (NS). CD patients exhibited frequencies of 8.8, 3.0 and 6.0% for the R702, G908R and L1007fs polymorphisms respectively, whereas our control population had allele frequencies of 11.6, 2.3 and 3.5% for the three mutations respectively (NS). We did not find any relationship between CARD15 mutations and the different phenotypes of Crohn's disease, according to Vienna classification. Conclusions: in our CD population, other factors (i.e. environmental), in addition to genetics, must be mainly involved in the development of the disease.

Keywords : Crohn's disease; CARD15 mutations; Carrier frequencies; Fenotypes.

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