细胞毒T淋巴细胞相关抗原4基因C-658T多态性与溃疡性结肠炎相关性研究  

Association of cytotoxic T lymphocyte antigen-4 promoter C-658T polymorphism with ulcerative colitis in Chinese

作　　者：罗燕[1] 夏冰[1] 李春[1] 陈志涛[1] 葛柳青[1] 姜挺[1] 

机构地区：[1]武汉大学中南医院消化内科,消化系病研究中心,湖北省肠病医学临床研究中心,湖北省过敏与免疫相关疾病重点实验室,430071

出　　处：《中华医学遗传学杂志》2009年第4期431-434,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30470783,30871149）

摘　　要：目的研究细胞毒性T淋巴细胞相关抗原4（cytotoxic Tlymphocyte—associated antigen 4，CTLA-4）基因启动子区C-658T（rs11571317）和3’末端非转录区C61T（rs11571319）位点多态性与中国湖北省汉族人溃疡性结肠炎的相关性。方法收集117例溃疡性结肠炎（ulcerative colitis，UC）患者和246名正常对照者静脉血标本，提取基因组DNA，分别采用聚合酶链式反应-限制性片段长度多态性分析（polymerase chain reaction-restriction fragment length polymorphism，PCR—RFLP）方法和聚合酶链式反应-单链构象多态性分析（polymerase chain reaction-single strand conformation polymorphism，PCR—SSCP）方法，检测CTLA-4C-658T和C61T基因多态性，计算基因型和等位基因频率。结果UC患者CTLA-4基因-658TT＋CT基因型和T等位基因频率显著高于正常对照组（P=0．015；P=0．033），与UC患者的病变范围有显著相关（P=0．037；P=0．0067）；UC组C61T基因型频率与对照组相比，差异无统计学意义（P=0．192）。结论CTLA-4基因启动子区C-658T位点T等位基因与中国汉族UC存在显著相关性。Objective To investigate the association of gene polymorphism of cytotoxic T lymphocyte-associated antigen 4 （CTLA-4）with ulcerative colitis （UC） in Chinese. Methods One hundred and seventeen patients with UC and 246 healthy controls were genotyped for the polymorphisms of C-658T in the promoter and C61T at the 3r untranslated region of the CTLA-4 gene using polymerase chain reaction- restriction fragment length polymorphism （PCR-RFLP） and polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP）, respectively. The genotype and allele frequencies of the two groups were calculated and compared by chi square test. Results The frequency of TT＋CT genotype at the CTLA-4 gene C-658T in the promoter was significantly higher in UC patients than that in healthy controls （P= 0. 015）. The frequency of the T allele at this locus was also significantly higher in UC patients than that in the controls （P=0. 033）. The frequencies of TT genotype and T allele at the C-658T locus were highly associated with extensive colitis in UC patients （P = 0. 037, and P = 0. 0067, respectively）. Conclusion The T allele of CTLA-4 promoter C 658T locus was highly associated with UC in Chinese Han of central China.

关 键 词：细胞毒性T淋巴细胞相关抗原4 溃疡性结肠炎 遗传多态性 

分 类 号：R686[医药卫生—骨科学]