【摘要】 目的炎症性肠病的发病与T细胞过度活化有关,细胞毒T淋巴细胞相关抗原4(CTLA-4)是重要的T细胞活化负性调节因子。本课题研究CTLA-4基因启动子区-1722位点(T/C)及-1661位点(A/G)多态性与中国汉族人群中溃疡性结肠炎(UC)的相关性。方法采用PCR-限制性片段长度多态性方法,对87例中国汉族UC患者和116例正常对照者进行CTLA-4基因-1722位点和-1661位点多态性检测。结果UC患者CTLA-4基因-1661位点A/G+G/G基因型频率,-1661位点G等位基因频率显著高于正常对照组(34.5%比15.5%,P=0.002,OR=2.865,95%CI=1.467~5.596;19.0%比8.2%,P=0.002,OR=2.624,95%CI=1.435~4.796);而在-1722位点的基因型频率、等位基因频率与对照组比较差异无统计学意义(P>0.05)。结论CTLA-4基因启动子区-1661位点G等位基因与中国汉族UC存在显著相关性。更多还原

【Abstract】 Objective Inflammatory bowel disease (IBD) is characterized by the T-cell excessive activation of intestinal mucosa. Cytotoxic T-lymphocyte associated antigen 4 (CTLA-4) is a negative regulator of T-lymphocyte activation. The aim of the present study is to investigate the association between CTLA-4 promoter -1722(T/C),-1661(A/G) polymorphisms and ulcerative colitis (UC) in Han Chinese, in Hubei province of central China. Methods Eighty-seven patients with UC and 116 healthy controls were genotyped for CTLA-4 promoter -1722 and -1661 polymorphisms with a method of polymerase chain reaction based restriction fragment length polymorphism.Results The frequency of "A/G+G/G" genotype at the -1661 site was statistically higher in UC patients than in healthy controls (34.5% vs 15.5%, P=0.002, OR=2.865, 95%CI=1.467-5.596). The frequency of the G allele at the -1661 site was also significantly higher in UC patients than in the controls (19.0% vs 8.2%, P=0.002, OR= 2.624, 95%CI=1.435-4.796). However, the distribution of the genotypes at -1722 site was not significantly different between the UC patients and the controls.Conclusion The G allele of CTLA-4 promoter -1661 polymorphism showed a highly significant association with UC in Han Chinese of the central China.更多还原