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CARD15/NOD2, CD14 and Toll-like 4 Receptor Gene Polymorphisms in Saudi Patients with Crohn’s Disease

Department of Internal Medicine, Division of Gastroenterology, Faculty of Medicine, University King Saud, Riyadh 11461, Saudi Arabia
Department of Biochemistry, Faculty of Medicine, University of Alexandria, Alexandria 21111, Egypt
Department of Biochemistry, Faculty of Science, King Saud University, Riyadh 11495, Saudi Arabia
Author to whom correspondence should be addressed.
Current address: Department of Biochemistry, Faculty of Science, University King Saud, Riyadh 11495, Saudi Arabia.
Int. J. Mol. Sci. 2012, 13(4), 4268-4280;
Received: 31 December 2011 / Revised: 19 March 2012 / Accepted: 20 March 2012 / Published: 2 April 2012
(This article belongs to the Special Issue Advances in Molecular Diagnostics)
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Crohn’s disease (CD) is a multifactorial disease with a genetic component and an observed association with genes related to the innate immune response. Polymorphisms in the CARD15/NOD2 gene, in addition to functional variants of the toll-like receptor-4 (TLR4) and CD14 genes, have been associated with the development of Crohn’s disease. There is no information about the frequency of these polymorphisms in the Saudi population. We examined the frequency of the three major CARD15/NOD2 risk alleles (Leu1007fsinsC, Arg702Trp, and Gly908Arg) and the TLR4 (Thr399Il) polymorphism as well as a functional polymorphism in the promoter of the CD14–159C/T in 46 Saudi CD patients and 50 matched controls. Genotyping was performed by allele-specific PCR or by restriction fragment length polymorphism (PCR-RFLP) analysis. The mutant genotype frequencies of the Leu1007fsinsC, Arg702Trp and Gly908Arg in the patient group were 6.5, 21.7 and 6.5%, respectively, compared with frequencies of 0, 4 and 2%, respectively, in the control group. There were 15 patients who carried the mutant alleles for all three CARD15/NOD2 variants, Leu1007fsinsC, Arg702Trp and Gly908Arg, while none of the control candidates carried the three alleles. This genetic study provides evidence that the three major CARD15/NOD2 variant alleles and the CD14 −159C/T polymorphism are associated with Crohn’s disease (CD) susceptibility in the Saudi population; however, there is no evidence that the TLR4 (Thr399Il) or CARD15/NOD2 polymorphisms can be considered risk factors for Crohn’s disease. View Full-Text
Keywords: inflammatory bowel disease; Crohn’s disease; genetic polymorphism; CARD15/NOD2 inflammatory bowel disease; Crohn’s disease; genetic polymorphism; CARD15/NOD2
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Azzam, N.; Nounou, H.; Alharbi, O.; Aljebreen, A.; Shalaby, M. CARD15/NOD2, CD14 and Toll-like 4 Receptor Gene Polymorphisms in Saudi Patients with Crohn’s Disease. Int. J. Mol. Sci. 2012, 13, 4268-4280.

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