Hacker U T, Bidlingmaier C, Gomolka M, Keller E, Eigler A, Hartmann G, Folwaczny C, Fricke H, Albert E, Loeschke K, Endres S
Medizinische Klinik, Klinikum Innenstadt, University of Munich, Germany.
Eur J Clin Invest. 1998 Mar;28(3):214-9. doi: 10.1046/j.1365-2362.1998.00277.x.
Interleukin 1 (IL-1) and its physiological antagonist interleukin-1 receptor antagonist (IL-1 ra) play a crucial role in the pathogenesis of inflammatory bowel disease. Polymorphisms in the genes coding for these cytokines, the restriction enzyme TaqI polymorphism for IL-1 beta and the variable number of tandem repeats (VNTR) polymorphism for IL-1 ra, have been shown to influence cytokine synthesis in vitro. Recently, an association has been described for distinct allele combinations of these two polymorphisms in patients with ulcerative colitis and with Crohn's disease but not in healthy control subjects.
We studied 56 patients with ulcerative colitis, 64 patients with Crohn's disease and 196 healthy control subjects. All were unrelated Caucasians of European ancestry. After polymerase chain reaction (PCR) the amplification products were analysed on agarose gels. For the IL-1 beta polymorphism the PCR product was additionally digested using the restriction enzyme TaqI.
The allele and genotype frequencies as well as the carriage rates of the IL-1 beta TaqI polymorphism in healthy control subjects were in agreement with previous findings in other populations. Allele and genotype frequencies of the IL-1 beta polymorphism were not different in inflammatory bowel disease patients compared with healthy control subjects. Comparing allele combinations of both polymorphisms no association could be identified either within healthy control subjects or in the groups of patients with ulcerative colitis or Crohn's disease.
Thus, we could not confirm the results of a previous study reporting an association between the IL-1ra and IL-1 beta gene polymorphisms in patients with inflammatory bowel disease.
白细胞介素1（IL-1）及其生理性拮抗剂白细胞介素-1受体拮抗剂（IL-1 ra）在炎症性肠病的发病机制中起关键作用。编码这些细胞因子的基因多态性，即IL-1β的限制性内切酶TaqI多态性和IL-1 ra的串联重复序列可变数目（VNTR）多态性，已被证明在体外会影响细胞因子的合成。最近，已报道这两种多态性的不同等位基因组合在溃疡性结肠炎和克罗恩病患者中存在关联，但在健康对照者中未发现。
我们研究了56例溃疡性结肠炎患者、64例克罗恩病患者和196例健康对照者。所有研究对象均为欧洲血统、无亲缘关系的白种人。聚合酶链反应（PCR）后，扩增产物在琼脂糖凝胶上进行分析。对于IL-1β多态性，PCR产物还使用限制性内切酶TaqI进行消化。
健康对照者中IL-1β TaqI多态性的等位基因和基因型频率以及携带率与其他人群先前的研究结果一致。与健康对照者相比，炎症性肠病患者中IL-1β多态性的等位基因和基因型频率没有差异。比较两种多态性的等位基因组合，无论是在健康对照者中还是在溃疡性结肠炎或克罗恩病患者组中，均未发现关联。
因此，我们无法证实先前一项研究报道的炎症性肠病患者中IL-1ra和IL-1β基因多态性之间存在关联的结果。
