细胞毒T淋巴细胞相关抗原4基因多态性与溃疡性结肠炎  

Cytotoxic T lymphocyte antigen-4 promoter gene polymorphism is significantly associated with ulcerative colitis

作　　者：周峰[1] 夏冰[1] 郭秋莎[1] 王琪[1] 李岚[1] 姜黎[1] 程虹[1] 

机构地区：[1]武汉大学中南医院内科,消化疾病研究中心,430071

出　　处：《中华内科杂志》2006年第6期478-481,共4页Chinese Journal of Internal Medicine

基　　金：国家自然科学基金资助项目(30470783)

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.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.

关 键 词：T淋巴细胞 细胞毒性 结肠炎 溃疡性 基因 多态现象 

分 类 号：R574.62[医药卫生—消化系统]