. 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.
Acta Paediatr. 2010 May;99(5):727-733. doi: 10.1111/j.1651-2227.2009.01680.x. Epub 2010 Feb 26.
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.
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.
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.
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.
全基因组关联研究描述了白细胞介素-23 受体（IL23R）基因座内的变异与克罗恩病（CD）和溃疡性结肠炎（UC）相关。我们研究了 rs11209026（p.Arg381Gln）和 rs7517847（c.799-3588T>G）在德国儿科炎症性肠病（IBD）患者中的相关性，并分析了结肠组织中 IL23R 的转录活性。
使用预设计的 TaqMan（R）SNP 基因分型检测，在 353 名德国儿童 IBD（221 名 CD，132 名 UC）患者和 253 名对照中确定了 rs11209026 和 rs7517847 核苷酸替换。在选定的 IBD 患者和对照中，使用实时 PCR 测量 IL23R mRNA 表达。
与对照组相比，CD 患者 rs11209026 A 等位基因的患病率较低，但 UC 患者则不然（1.8% vs 7.1%，p < 0.01）。相比之下，rs7517847 变体与 CD 或 UC 均无关。与对照组相比，IBD 患者的 IL23R 表达存在差异，但无明显的过表达或下调。
我们的研究为 rs11209026（p.Arg381Gln）变体对儿科 CD 的强烈保护作用提供了额外的支持。IL23R 在 CD 和 UC 中均有表达，且变异性较大。然而，表达水平与疾病无显著关联。
