摘要
[目的]探讨肿瘤坏死因子相关凋亡诱导配体(Trail)(G1525A、C1595T)基因多态性及单倍型与溃疡性结肠炎(UC)易感性的关系。[方法]收集252例UC患者和775例正常对照者(HC),采用直接测序法检测Trail(G1525A、C1595T)等位基因及基因型,并做单倍型分析。[结果]与HC组相比,UC组Trail G1525A变异等位基因(A)和基因型(GA+AA)的频率明显减低(35.52%VS 55.94%,P<0.01;41.27%VS 79.74%,P<0.01);TrailC1595T变异基因型(CT+TT)的频率UC组亦明显降低(70.23%VS 80.52%,P<0.01)。单倍型分析发现Trail(G1525A、C1595T)完全连锁(D’=0.979,r2=0.810)。与HC组比较,GC、GT单倍型UC组明显增高(46.56%VS 36.77%,P<0.01;13.36%VS 7.54%,P<0.01);而AC、AT单倍型明显降低(0.64%VS 10.22%,P<0.01;39.44%VS 45.47%,P<0.01)。[结论]Trail(G1525A、C1595T)基因多态性及单倍型与UC易感性相关,此2位点基因变异对UC可能具有保护作用。
[Objective]To investigate the associations of the polymorphisms and haplotypes in tumor necrosis factor related apoptosis-inducing ligand （Trail）（G1525A, C1595T）genes with the susceptibility to ulcerative colitis（UC）. [Methods]A total of 252 consecutive patients with UC, and 775 healthy controls（HC）were recruited in this study. Two single nucleotide polymorphisms in Trail（G1525A, C1595T）genes were determined using direct sequencing methods. Haptotype a- nalysis was also made in all study subjects. [Results]In contrast with the HC, the variant allele （A）and genotype（GAff-AA）in Trail G1525A gene were significantly diminished in UC patients （35.52% VS 55.94%, P〈0. 01;41.27% VS 79.74%, P%0.01, respectively）. The same results were drawn for the variant genotype（CT＋TT）in Trail C1595T gene（70.23% VS 80.52%, P% 0.01）. In haplotype analysis,Trail（G1525A, C1595T）were shown to be in complete linkage dise- quilihrium（D＇ =0. 979, r2 = 0. 810）. The frequencies of GC and GT haplotypes were significantly higher in UC patients than in the HC（46.56% VS 36.77%,P〈0.01; 13.36G VS 7.54%,P% 0. 01, respectively）. Both AC and AT haplotype, nevertheless, were significantly lower in UC patients（0.64% VS 10. 22%,P〈0. 01;39.44% VS 45.47%, P〈0. 01, respectively）. [Conelusion] The polymorphisms and haplotypes in Trail（G1525A, C1595T）genes are correlated with the susceptibility to UC. The genetic mutation of Trail（G1525A, C1595T）may play a protective role in UC patients.
出处
《中国中西医结合消化杂志》
CAS
2012年第3期122-125,共4页
Chinese Journal of Integrated Traditional and Western Medicine on Digestion
基金
温州市科技局资助项目(Y20080110)
关键词
结肠炎
溃疡性
肿瘤坏死因子
相关凋亡诱导配体
基因
多态性
单倍型
ulcerative colitis
gene
polymorphism
haplotypetumor necrosis factor related apoptosis-inducing ligand
