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Erschienen in:
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
Erschienen in: International Journal of Colorectal Disease | Ausgabe 2/2004
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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.