CAJ | 학술논문

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.
목적 탐토종류배사인자상관조망유도배체(Trail)기인다태성급단배형여궤양성결장염(UC)적관계.방법 수집UC환자331례,건강대조자832명,PCR확증Trail목적기인후,직접측서검측Trail기인3비편마구(G1525A/G1588A/C1595T)삼충단핵감산다태성,병분석Trail단배형여UC적관계.결과 여대조조상비교,Trail G1525A돌변등위기인A화기인형GA+ AA적빈솔재UC조중명현강저(P치균＜0.01)；UC조Trail G1588A화C1595T량위점돌변등위기인A화T적빈솔명현저우대조조,차차이유통계학의의(P치균＜0.01).경화중도UC환자Trail C1595T돌변등위기인T화CT+ TT기인형빈솔위49.15％화64.51％,중도UC환자분별위72.37％화84.21％,량조비교차이균유통계학의의(OR치분별=2.710화2.935,95％CI:1.598～4.596화1.188～7.249,P치균＜0.05).중도UC환자Trail G1525A돌변등위기인A적빈솔위48.69％,교경화중도UC환자(35.16％)증가(OR=1.750,95％CI:1.082～2.830,P=0.021).UC조중AAT단배형빈솔현저저우대조조(43.09％비58.41％,95％CI:1.549～2.229,P＜0.01)；GAT단배형빈솔재UC조중명현증고(10.15％비0.18％,95％CI:0.005～0.051,P＜0.01).결론 Trail기인다태성급단배형여UC역감성밀절상관.
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.