alexa Replication of Identified Inflammatory Bowel Diseases Genetic Associations: A Case-Control Study in the Tunisian Population
ISSN: 2155-9899

Journal of Clinical & Cellular Immunology
Open Access

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Research Article

Replication of Identified Inflammatory Bowel Diseases Genetic Associations: A Case-Control Study in the Tunisian Population

Bouzid D1*, Fourati H1, Amouri A2, Marques I3, Abida O1, Tahri N2, Penha-Gonçalves C3 and Masmoudi H1
1Immunology Department, Medicine School and Habib Bourguiba Hospital, Sfax, Tunisia
2Gastroenterology Department, Hédi Chaker Hospital, Sfax, Tunisia
3Instituto Gulbenkian de Ciência, Oeras, Portugal
Corresponding Author : Bouzid Dorra
Immunology Department
Habib Bourguiba Hospital, 3029 Sfax, Tunisia
Tel: +216.74451660
E-mail: [email protected]
Received: June 26, 2012; Accepted: July 26, 2012; Published: August 02, 2012
Citation: Bouzid D, Fourati H, Amouri A, Marques I, Abida O, et al. (2012) Replication of Identified Inflammatory Bowel Diseases Genetic Associations: A Case–Control Study in the Tunisian Population. J Clin Cell Immunol S10:001. doi:10.4172/2155-9899.S10-001
Copyright: © 2012 Bouzid D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

Inflammatory bowel diseases (IBD) — Crohn’s disease (CD) and ulcerative colitis (UC) — are chronic gastrointestinal inflammatory disorders with a complex genetic background. A genome wide association scan by the Welcome Trust Case Control Consortium (WTCCC) recently identified several novel susceptibility loci. We performed a replication study in 107 IBD patients (39 CD and 68 UC) and 162 controls. In total, 19 single nucleotide polymorphisms (SNPs) from previously identified susceptibility genes PTPN11, TNF α, IL23R, PTPN2, PTPN22, IL2 and IL10 were studied. In UC, we confirmed the association with PTPN2 (rs254215, GG, P=0.013, Pcorr=0.039; OR= 6.23 (1.18; 32.95)). In CD, we confirmed a marginal association with ((rs11066320, GG, P=0.018, Pcorr=0.054, OR= 0.4 (0.19; 0.82)). No significant association was found at the allele and genotype levels of SNPs in TNF α, IL23R, PTPN22, IL2, and IL10. However, on the haplotype analysis the AG haplotype of TNFα was more frequent in CD patients compared to controls (23.1% vs. 13.7%; P = 0.039; OR= 1.89 (1.02; 3.5)). The PTPN11ATG haplotype was also more frequent in CD patients compared to controls (32.1% vs 21.3%; P = 0.04; OR= 1.75 (1.01; 3.01). These results reveal limited replication in Tunisian population and indicate differences in genetic architecture between populations.

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