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Published on: June 21, 2018
Association of the interleukin-23 receptor gene variant rs11209026 with Crohn's disease in German children
M Lacher1, S Schroepf1, J Helmbrecht1
1. Department of Paediatric Surgery, Research Laboratories, University of Munich, Munich, Germany. Department of Paediatrics, Division of Paediatric Gastroenterology, Universitätsklinikum Essen, University of Duisburg-Essen, Essen, Germany. Division of Pediatric Gastroenterology, Department of Pediatrics, Klinikum Links der Weser, Bremen, Germany. Department of Clinical Chemistry - Großhadern, University of Munich, Munich, Germany. Department of Paediatrics, Devision of Paediatric Gastroenterology, University of Munich, Munich, Germany.
Aim:
Genome-wide association studies have described variants within the interleukin-23 receptor (IL23R) locus to be associated with Crohn's disease (CD) and ulcerative colitis (UC). We investigated the association of rs11209026 (p.Arg381Gln) and rs7517847 (c.799-3588T>G) into German paediatric inflammatory bowel disease (IBD) patients and analysed IL23R transcriptional activity in colonic tissues.
Methods:
The rs11209026 and rs7517847 nucleotide substitutions were determined in 353 German children with IBD (221 CD, 132 UC) and 253 controls using pre-designed TaqMan((R)) SNP genotyping assays. In selected IBD patients and controls, IL23R mRNA expression was measured using real-time PCR.
Results:
The prevalence of the rs11209026 A allele was lower in CD patients, but not in UC patients, when compared with controls (1.8% vs 7.1%, p < 0.01). The rs7517847 variant, in contrast, was associated neither with CD nor with UC. IL23R expression was variable in IBD patients compared with controls without significant overexpression or downregulation.
Conclusion:
Our study provides additional support for the strong protection of the rs11209026 (p.Arg381Gln) variant against paediatric CD. IL23R was expressed in both CD and UC with a great variability. However, expression levels showed no significant association with the disease.
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