Haas Stephan L, Andreas Koch W, Schreiber Stefan, Reinhard Iris, Koyama Noriko, Singer Manfred V, Böcker Ulrich
Department of Medicine II, Medical Faculty at Mannheim, University of Heidelberg, Mannheim, Germany.
Scand J Gastroenterol. 2005 Dec;40(12):1438-43. doi: 10.1080/00365520510023738.
There is strong evidence that genetic factors contribute to the susceptibility for inflammatory bowel diseases (IBD). Recently, IL-18 promoter polymorphisms were characterized as risk factors for inflammatory diseases such as sepsis, asthma and adult-onset Still's disease. The aim of this study was to determine whether the -137 (G/C) IL-18 promoter polymorphism was associated with IBD susceptibility.
For association analysis, 470 patients with Crohn's disease (CD), 235 unrelated patients with ulcerative colitis (UC) and 347 controls were enrolled. Furthermore, 233 UC and 470 CD trios were included for segregation analysis. Genotyping was performed by application of the TaqMan MGB biallelic discrimination system.
When comparing genotype frequencies of CD and UC patients versus controls, no significant difference was found (p=0.089 and p=0.078, respectively). However, the Cochran-Armitage trend test revealed a rising probability for CD and UC with increasing number of G alleles (p=0.030 and 0.028, respectively) for the case-control analysis. On the contrary, the family-based transmission disequilibrium test (TDT) did not show an association of the G allele with CD or UC in 470 CD and 233 UC trios (p=0.53 and p=0.79, respectively).
The -137 (G/C) IL-18 promoter polymorphism is not a susceptibility factor for IBD in a German cohort.
有强有力的证据表明遗传因素导致炎症性肠病（IBD）易感性。最近，白细胞介素-18（IL-18）启动子多态性被确定为脓毒症、哮喘和成人斯蒂尔病等炎症性疾病的危险因素。本研究旨在确定-137（G/C）IL-18启动子多态性是否与IBD易感性相关。
为进行关联分析，纳入了470例克罗恩病（CD）患者、235例无亲缘关系的溃疡性结肠炎（UC）患者和347例对照。此外，纳入233例UC和470例CD三联体进行分离分析。采用TaqMan MGB双等位基因鉴别系统进行基因分型。
比较CD和UC患者与对照的基因型频率时，未发现显著差异（分别为p = 0.089和p = 0.078）。然而，病例对照分析的 Cochr an-Armitage趋势检验显示，随着G等位基因数量增加，CD和UC的概率上升（分别为p = 0.030和0.028）。相反，在470例CD和233例UC三联体中，基于家系的传递不平衡检验（TDT）未显示G等位基因与CD或UC相关（分别为p = 0.53和p = 0.79）。
在德国队列中，-137（G/C）IL-18启动子多态性不是IBD的易感因素。
