The CREM gene is involved in genetic predisposition to inflammatory bowel disease in the Tunisian population.
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.
Immunology Department, Medicine School and Habib Bourguiba Hospital, Sfax, Tunisia. dorra-ing@voila.fr
Dorra
D
Bouzid
Hajer
H
Fourati
Ali
A
Amouri
Isabel
I
Marques
Olfa
O
Abida
Samy
S
Haddouk
Mourad
M
Ben Ayed
Nabil
N
Tahri
Carlos
C
Penha-Gonçalves
Hatem
H
Masmoudi
D000328:Adult; D016022:Case-Control Studies; D015331:Cohort Studies; D003093:Colitis, Ulcerative / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D051786:Cyclic AMP Response Element Modulator / Q000235:genetics* / Q000276:immunology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000276:immunology*; D050797:STAT4 Transcription Factor / Q000235:genetics* / Q000276:immunology; D014416:Tunisia / Q000453:epidemiology
C497410:CREM protein, human; D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human; D051786:Cyclic AMP Response Element Modulator