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Association of the interleukin‐23 receptor gene variant rs11209026 with Crohn’s disease in German children
Author(s) -
Lacher M,
Schroepf S,
Helmbrecht J,
Von Schweinitz D,
Ballauff A,
Koch I,
Lohse P,
Osterrieder S,
Kappler R,
Koletzko S
Publication year - 2010
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2009.01680.x
Subject(s) - medicine , single nucleotide polymorphism , inflammatory bowel disease , ulcerative colitis , taqman , genotyping , crohn's disease , allele , snp , immunology , genotype , disease , gastroenterology , gene , real time polymerase chain reaction , genetics , biology
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 ® 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.