摘要
目的 探讨肿瘤坏死因子相关凋亡诱导配体（Trail）基因多态性及单倍型与溃疡性结肠炎（UC）的关系.方法 收集UC患者331例,健康对照者832名,PCR扩增Trail目的基因后,直接测序检测Trail基因3非编码区（G1525A/G1588A/C1595T）三种单核苷酸多态性,并分析Trail单倍型与UC的关系.结果 与对照组相比较,Trail G1525A突变等位基因A和基因型GA＋ AA的频率在UC组中明显降低（P值均＜0.01）；UC组Trail G1588A和C1595T两位点突变等位基因A和T的频率明显低于对照组,且差异有统计学意义（P值均＜0.01）.轻和中度UC患者Trail C1595T突变等位基因T和CT＋ TT基因型频率为49.15％和64.51％,重度UC患者分别为72.37％和84.21％,两组比较差异均有统计学意义（OR值分别=2.710和2.935,95％CI：1.598～4.596和1.188～7.249,P值均＜0.05）.重度UC患者Trail G1525A突变等位基因A的频率为48.69％,较轻和中度UC患者（35.16％）增加（OR=1.750,95％CI：1.082～2.830,P=0.021）.UC组中AAT单倍型频率显著低于对照组（43.09％比58.41％,95％CI：1.549～2.229,P＜0.01）；GAT单倍型频率在UC组中明显增高（10.15％比0.18％,95％CI：0.005～0.051,P＜0.01）.结论 Trail基因多态性及单倍型与UC易感性密切相关.
Objective To explore the association between genetic polymorphisms and haplotypes of tumor necrosis factor-related apoptosis inducing ligand （Trail） and ulcerative colitis （UC）.Methods A total of 331 patients with UC and 832 age and sex-matched healthy controls were collected.After Trail gene was amplified by PCR,the genetic polymorphisms of three single nucleotides （G1525A/G1588A/C1595T） in 3＇ non coding regions of Trail gene were examined by direct sequencing.The relation between Trail haplotype and UC was analyzed.Results Compared with control group,the frequencies of variant allele A and genotype GA＋ AA in Trail G1525A were significantly lower in UC group （both P〈0.01）.The frequencies of variant allele A and T in Trail G1588A and C1595T were also significantly lower in UC group than that of control group,and the difference was statistically significant （both P 〈 0.01 ）.In mild and moderate UC patients,the frequencies of variant allele T and CT＋TT in Trail C1595T were 49.15% and 64.51%,in severe UC patients were 72.37% and 84.21%,and the differences were significant between the two groups （OR=2.710 and 2.935,95%CI：1.598～4.596 and 1.188～7.249,all P 〈0.05）.In severe UC patients,the frequency of variant allele A in Trail G1525A was 48.69%,which was higher than that of mild and moderate patients （35.16%,OR=1.750,95%CI：1.082～2.830,P=0.021）.In UC group,the frequency of AAT haplotype was significantly lower than that of controls （43.09% vs 58.41%,P〈0.01）.The frequency of GAT haplotype was significantly higher in UC group （10.15%vs 0.18%,95% CI：0.005 ～ 0.051,P〈 0.01）.Conclusion The genetic polymorphisms and haplotypes of Trail （G1525A/G1588A/C1595T） gene may be closely correlated with the susceptibility to UC.
出处
《中华消化杂志》
CAS
CSCD
北大核心
2011年第12期812-816,共5页
Chinese Journal of Digestion
