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Abstract
BackgroundInflammatory bowel diseases (IBD) are chronic diseases of the gastrointestinal tract. Although their pathogenesis is unclear, the combination of genetic predisposition and environmental components are believed to be the main cause of these diseases. Recently, many variants in interleukin 23 receptor (IL23R) and autophagy-related 16-like 1 (ATG16L1) genes have been associated with the disease. Our objective was to assess the frequency of ATG16L1 (T300A) and IL23R (L310P) variants in Moroccan IBD (Crohn’s disease and Ulcerative Colitis) patients and to evaluate a possible effect of these variants on disease’s phenotype and clinical course.Methods96 Moroccan IBD patients and 114 unrelated volunteers were genotyped for ATG16L1 (T300A) and IL23R (L310P) variants by PCR-restriction fragment length polymorphism.ResultsThis is the first report on the prevalence of ATG16L1 (T300A) and IL23R (L310P) variants in a Moroccan group. We found that IL23R (L310P) variant conferred a protective effect for crohn’s disease (CD) but not ulcerative colitis (UC) patients. The presence of ATG16L1 (T300A) mutated alleles was associated with CD type but not with disease onset. In addition, the carriage of T300A variant alleles conferred a protective effect in UC.ConclusionOur results showed that the prevalence of ATG16L1 and IL23R variants was not significantly different between patients and controls. However a possible role of ATG16L1 (T300A) on CD phenotype was suggested.Electronic supplementary materialThe online version of this article (doi:10.1186/1756-0500-7-570) contains supplementary material, which is available to authorized users.
Highlights
Inflammatory bowel diseases (IBD) are chronic diseases of the gastrointestinal tract
Epidemiologic data One hundred fourteen participants from the general population were genotyped for autophagy-related 16-like 1 (ATG16L1) (T300A) and interleukin 23 receptor (IL23R) (L310P) along with 69 Crohn’s disease patients (25 women and 44 men) and 30 ulcerative colitis (UC) patients (14 women and 16 men)
Genetic and clinical correlations Statistical analysis of the distribution of single nucleotide polymorphisms (SNPs) studied showed that allele frequencies were conformed to Hardy–Weinberg expectations (=1.14, P = 0.57; =0.017, P = 0.99) (=0.03, P = 0.86; =0.017, P = 0.99) for T300A (ATG16L1) and L310P (IL23R) in Crohn’s disease (CD) patients and controls respectively
Summary
Inflammatory bowel diseases (IBD) are chronic diseases of the gastrointestinal tract. Their pathogenesis is unclear, the combination of genetic predisposition and environmental components are believed to be the main cause of these diseases. Many variants in interleukin 23 receptor (IL23R) and autophagy-related 16-like 1 (ATG16L1) genes have been associated with the disease. Inflammatory bowel disease (IBD) is a chronic and multifactorial disease of the gastrointestinal tract. It includes Crohn’s disease (CD), ulcerative colitis (UC) and undetermined colitis. Their etiologies remain complex and unclear involving an inadequately defined relationship between microbial insult, genetic predisposition and altered intestinal barrier permeability [1].
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