Celik Yasemin, Dagli Ulkü, Kiliç Mesut Yalin, Törüner Murat, Ozen Senem Ceren, Ozkan Muhip, Soykan Irfan, Cetinkaya Hülya, Ulker Aysel, Ozden Ali, Bozdayi A Mithat
Institute of Biotechnology, Ankara University, Ankara, Turkey.
Scand J Gastroenterol. 2006 May;41(5):559-65. doi: 10.1080/00365520500349523.
Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the bowel, the causes of which are not fully known. Ethnic differences in disease prevalence, familial aggregation of the disease and studies of twins provide the most important evidence to suggest that genetic factors play a role in the pathogenesis of inflammatory bowel disease (IBD). The aim of this study was to examine the allelic polymorphisms that can determine the immune response levels in tumor necrosis factor alpha (TNFalpha), interleukin-1beta (IL-1B), interleukin-1 receptor antagonist ( IL-1RN) and interleukin-10 (IL-10) genes and to investigate their roles in the inflammatory pathway in IBD.
The study included 120 patients with UC and 70 patients with CD who were diagnosed either endoscopically or histopathologically. The control group comprised 105 healthy individuals who stated that they had never had any bowel disease during their life span. The polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method for polymorphisms in the TNFalpha gene at positions -308 and -238, the IL-10 gene at positions -1082 and -627, the IL-1B gene at -511 regions and the variable number of tandem repeat (VNTR) method for polymorphism in the intron 2 of the IL-1RN gene were performed. The results were analyzed on agarose gel electrophoresis.
No significant differences were found in the allele and genotype frequencies of the polymorphisms in the IL-1B, IL10, TNFalpha and IL-1RN genes between the patients with UC and CD and controls.
The results suggest that these polymorphisms were not important risk factors in the susceptibility to IBD in Turkish patients.
克罗恩病（CD）和溃疡性结肠炎（UC）是肠道慢性炎症性疾病，其病因尚不完全清楚。疾病患病率的种族差异、疾病的家族聚集性以及双胞胎研究提供了最重要的证据，表明遗传因素在炎症性肠病（IBD）的发病机制中起作用。本研究的目的是检测可决定肿瘤坏死因子α（TNFα）、白细胞介素-1β（IL-1B）、白细胞介素-1受体拮抗剂（IL-1RN）和白细胞介素-10（IL-10）基因免疫反应水平的等位基因多态性，并研究它们在IBD炎症途径中的作用。
该研究纳入了120例经内镜或组织病理学诊断的UC患者和70例CD患者。对照组由105名健康个体组成，他们表示一生中从未患过任何肠道疾病。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测TNFα基因-308和-238位点、IL-10基因-1082和-627位点、IL-1B基因-511区域的多态性，采用可变数目串联重复（VNTR）方法检测IL-1RN基因内含子2的多态性。结果在琼脂糖凝胶电泳上进行分析。
UC和CD患者与对照组之间，IL-1B、IL10、TNFα和IL-1RN基因多态性的等位基因和基因型频率没有显著差异。
结果表明，这些多态性不是土耳其患者患IBD易感性的重要危险因素。
