Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.7/247
Título: The {CREM} gene is involved in genetic predisposition to inflammatory bowel disease in the Tunisian population
Autor: Bouzid, Dorra
Fourati, Hajer
Amouri, Ali
Marques, Isabel
Abida, Olfa
Haddouk, Samy
Ben Ayed, Mourad
Tahri, Nabil
Penha-Gonçalves, Carlos
Masmoudi, Hatem
Palavras-chave: Adult
Case-Control Studies
Cohort Studies
Colitis
Ulcerative
Crohn Disease
Data: 2011
Citação: Bouzid, Dorra; Fourati, Hajer; Amouri, Ali; Marques, Isabel; Abida, Olfa; Haddouk, Samy; Ben Ayed, Mourad; Tahri, Nabil; Penha-Gonçalves, Carlos; Masmoudi, Hatem. The {CREM} gene is involved in genetic predisposition to inflammatory bowel disease in the Tunisian population, Human immunology, 72, 12, 1204-1209, 2011.
Resumo: The identification of susceptibility genes for inflammatory bowel disease (IBD) is key to understanding pathogenic mechanisms. Recently, the results of genetic association studies have highlighted many loci that are shared among several autoimmune diseases. We aimed to study the genetic epidemiology of polymorphisms in specific genes previously associated with other autoimmune diseases, namely the CREM, STAT4, STAT5a, Stat5b, and IRF5 genes. Twelve polymorphisms in the CREM, STAT4, STAT5a, Stat5b, and IRF5 genes were genotyped in a cohort of 107 IBD patients (39 Crohn's disease [CD] and 68 ulcerative colitis [UC]) and 162 controls from southern Tunisia. One CREM single nucleotide polymorphism (SNP) displayed evidence for genetic association with IBD (p=8.7×10(-4), odds ratio [OR]=2.84 [1.58; 5.09]). One STAT4 SNP (p=0.026; OR=1.65 [1.06; 2.58]) exhibited a marginal association with UC but not with CD. No significant association was observed with the SNPs in STAT5a, IRF5, and STAT5b. These results suggest that common variants of the CREM gene are involved in the genetic component conferring general susceptibility to IBD, whereas STAT4 appears to be more specifically associated with UC. This work provides motivation for studies aiming to replicate these findings in larger populations.
URI: http://hdl.handle.net/10400.7/247
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