Luo Yan, Xia Bing, Li Chun, Chen Zhitao, Ge Liuqing, Jiang Ting, Zhou Feng, Zhao Yan
Key Laboratory of Allergy and Immune-Related Diseases, School of Medicine, Wuhan University, Wuhan, Hubei Province, People's Republic of China.
Int J Colorectal Dis. 2009 May;24(5):489-93. doi: 10.1007/s00384-008-0626-6. Epub 2008 Dec 16.
Cytotoxic T lymphocyte antigen-4 (CTLA-4) plays a role in the downregulation of T cell activation. The present study aimed to examine an association between the CTLA-4 gene polymorphisms and ulcerative colitis (UC) in the Han Chinese in central China.
One hundred seventeen patients with UC and 246 healthy controls were genotyped for CTLA-4 gene -658CT in the promoter and CT61 at the 3' untranslated region using a method of polymerase chain reaction-based restriction fragment length polymorphism and single-strand conformation polymorphism, respectively. The distributions of the genotypes and the allele frequencies of the CTLA-4 gene in UC patients and healthy controls were compared by chi-square test.
The frequency of the T/T+C/T genotype at the CTLA-4 gene -658CT in the promoter was significantly higher in UC patients than in healthy controls (26.5% vs 15.4%, chi (2) = 6.287, P = 0.015, OR = 1.973, 95%CI = 1.153-3.375). The frequency of the T allele at the CTLA-4 -658CT was also significantly higher in UC patients than in the controls (13.2% vs 8.1%, chi (2) = 4.707, P = 0.033, OR = 1.726, 95%CI = 1.049-2.838). The frequency of the T/T genotype at the -658 locus was highly associated with extensive colitis in UC patients (P = 0.037, OR = 3.955, 95%CI = 1.068-14.647). The frequency of the T allele at the -658 locus was highly associated with extensive colitis in UC patients (P = 0.0067, OR = 3.05, 95%CI = 1.320-7.048).
The T allele of CTLA-4 -658 polymorphism in the promoter of CTLA-4 gene was highly associated with UC in the Han Chinese in central China.
细胞毒性T淋巴细胞抗原4（CTLA - 4）在T细胞活化的下调中起作用。本研究旨在探讨中国中部汉族人群中CTLA - 4基因多态性与溃疡性结肠炎（UC）之间的关联。
分别采用基于聚合酶链反应的限制性片段长度多态性方法和单链构象多态性方法，对117例UC患者和246例健康对照者的CTLA - 4基因启动子区 - 658CT和3'非翻译区CT61进行基因分型。通过卡方检验比较UC患者和健康对照者中CTLA - 4基因的基因型分布和等位基因频率。
UC患者中CTLA - 4基因启动子区 - 658CT处T/T + C/T基因型的频率显著高于健康对照者（26.5%对15.4%，χ² = 6.287，P = 0.015，OR = 1.973，95%CI = 1.153 - 3.375）。UC患者中CTLA - 4 - 658CT处T等位基因的频率也显著高于对照者（13.2%对8.1%，χ² = 4.707，P = 0.033，OR = 1.726，95%CI = 1.049 - 2.838）。 - 658位点的T/T基因型频率与UC患者的广泛性结肠炎高度相关（P = 0.037，OR = 3.955，95%CI = 1.068 - 14.647）。 - 658位点的T等位基因频率与UC患者的广泛性结肠炎高度相关（P = 0.0067，OR = 3.05，95%CI = 1.320 - 7.048）。
CTLA - 4基因启动子区 - 658多态性的T等位基因与中国中部汉族人群的UC高度相关。
