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Published in: International Journal of Colorectal Disease 2/2004

01-03-2004 | Original Article

A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene

Authors: Wolfram Klein, Andreas Tromm, Christian Folwaczny, Michaela Hagedorn, Natascha Duerig, Joerg T. Epplen, Wolff H. Schmiegel, Thomas Griga

Published in: International Journal of Colorectal Disease | Issue 2/2004

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Abstract

Background and aims

Nuclear factor kappa-B (NFκB) plays a crucial role in diseases associated with dysregulated immune response. NFκB inhibitor α downregulates the activity of NFκB.

Patients and methods

To evaluate the contribution of the NFκB inhibitor α gene in Crohn's disease single nucleotide polymorphisms in the 3′-UTR and at position −420 in the promoter were studied in 259 patients with Crohn's disease genotyped for the variations of the CARD15 gene in comparison to 441 healthy controls. Additionally we screened the coding region of the NFκB inhibitor α gene for polymorphisms by SSCP analysis.

Results

In comparison to controls the A allele and the AA genotype frequencies of the single nucleotide polymorphisms in the 3′-UTR were significantly increased only in Crohn's disease patients without a variation in the CARD15 gene. Similarly, the difference between patients harboring no predisposing CARD15 alleles and patients harboring such a variation was significant.

Conclusion

The findings indicate that the phenotype Crohn's disease is to be substructured with respect to genetic susceptibility.
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Metadata
Title
A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene
Authors
Wolfram Klein
Andreas Tromm
Christian Folwaczny
Michaela Hagedorn
Natascha Duerig
Joerg T. Epplen
Wolff H. Schmiegel
Thomas Griga
Publication date
01-03-2004
Publisher
Springer-Verlag
Published in
International Journal of Colorectal Disease / Issue 2/2004
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI
https://doi.org/10.1007/s00384-003-0531-y

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