CAJ | 학술논문

目的探讨死亡受体4和死亡受体5基因多态性与UC易感性的关系.方法收集362例UC患者和490名健康对照者,采用微测序技术(SNaPshot)检测死亡受体4(rs20575,rs13278062)和死亡受体5(rs1047266)3个位点的基因型,采用卡方检验和Fisher确切概率法比较各位点等位基因和基因型频率的分布差异,非条件Logistic回归分析死亡受体4和死亡受体5基因多态性与UC患者临床病理特征的关系.结果 UC组中死亡受体4(rs20575)突变等位基因G和基因型CG+GG的频率高于健康对照组[3.18％(23/724)比1.63％(16/980),x2=4.439,OR=1.977,95％CI:1.037～3.769,P=0.035;6.08％(22/362)比3.27％(16/490),x2 =3.863,OR=1.917,95％CI:0.992～3.705,P=0.049].重度UC患者死亡受体4(rs20575)的突变等位基因G和基因型CG+GG的频率高于轻中度UC患者[8.00％(8/100)比2.40％(15/624),OR=3.530,95％ CI:1.456～8.560,P=0.008;16.00％(8/50)比4.49％(14/312),OR=4.054,95％CI:1.605～10.243,P=0.004].死亡受体4(rs13278062)的突变等位基因和基因型频率在UC组与健康对照组间差异均无统计学意义(P均＞0.05).重度UC患者死亡受体4(rs13278062)的突变等位基因T和基因型GT+TT的频率均低于轻中度UC患者[23.00％(23/100)比36.06％(225/624),OR=0.530,95％CI:0.323～0.868,P=0.011;42.00％(21/50)比61.22％(191/312),OR=0.459,95％CI:0.250～0.841,P=0.010].死亡受体5(rs1047266)突变等位基因和基因型频率在UC组和健康对照组间差异均无统计学意义(P均＞0.05).结论死亡受体4(rs20575)位点突变等位基因G携带者罹患UC的危险性增加,死亡受体4(rs13278062)基因突变可能影响UC的病情严重程度,而死亡受体5(rs1047266)基因多态性与UC无关联.
목적 탐토사망수체4화사망수체5기인다태성여UC역감성적관계.방법 수집362례UC환자화490명건강대조자,채용미측서기술(SNaPshot)검측사망수체4(rs20575,rs13278062)화사망수체5(rs1047266)3개위점적기인형,채용잡방검험화Fisher학절개솔법비교각위점등위기인화기인형빈솔적분포차이,비조건Logistic회귀분석사망수체4화사망수체5기인다태성여UC환자림상병리특정적관계.결과 UC조중사망수체4(rs20575)돌변등위기인G화기인형CG+GG적빈솔고우건강대조조[3.18％(23/724)비1.63％(16/980),x2=4.439,OR=1.977,95％CI:1.037～3.769,P=0.035;6.08％(22/362)비3.27％(16/490),x2 =3.863,OR=1.917,95％CI:0.992～3.705,P=0.049].중도UC환자사망수체4(rs20575)적돌변등위기인G화기인형CG+GG적빈솔고우경중도UC환자[8.00％(8/100)비2.40％(15/624),OR=3.530,95％ CI:1.456～8.560,P=0.008;16.00％(8/50)비4.49％(14/312),OR=4.054,95％CI:1.605～10.243,P=0.004].사망수체4(rs13278062)적돌변등위기인화기인형빈솔재UC조여건강대조조간차이균무통계학의의(P균＞0.05).중도UC환자사망수체4(rs13278062)적돌변등위기인T화기인형GT+TT적빈솔균저우경중도UC환자[23.00％(23/100)비36.06％(225/624),OR=0.530,95％CI:0.323～0.868,P=0.011;42.00％(21/50)비61.22％(191/312),OR=0.459,95％CI:0.250～0.841,P=0.010].사망수체5(rs1047266)돌변등위기인화기인형빈솔재UC조화건강대조조간차이균무통계학의의(P균＞0.05).결론 사망수체4(rs20575)위점돌변등위기인G휴대자리환UC적위험성증가,사망수체4(rs13278062)기인돌변가능영향UC적병정엄중정도,이사망수체5(rs1047266)기인다태성여UC무관련.
Objective To explore the association of death receptor (DR) 4 and DR5 gene polymorphisms with ulcerative colitis (UC) susceptibility.Methods A total of 362 UC patients and 490 healthy individuals were recruited.The genotype of three locus of DR4 (rs20575,rs13278062)and DR5 (rs1047266) were detected by mini-sequencing technique (SNaPshot).Chi-square test and Fisher's exact test were performed to compare the differences in the distribution of allele and genotypic frequencies.The association of DR4 and DR5 polymorphisms with clinical pathological characteristics of UC patients was analyzed by unconditional Logistic regression analysis.Results The frequencies of variant allele G and genotype CG + GG of DR4 (rs20575) in UC group were higher than those in healthy control group (3.18％ (23/724) vs 1.63％(16/980),x2=4.439,OR=1.977,95％CI:1.037 to3.769; P=0.035; 6.08％(22/362) vs3.27％(16/490),x2=3.863,OR 1.917,95％CI:0.992 to 3.705,P=0.049).And the frequencies of variant allele G and genotype CG+GG of DR4 (rs20575) of severe UC patients were higher than those of mild and moderate UC patients (8.00％(8/100) vs 2.40％ (15/624),OR-3.530,95％CI:1.456 to 8.560,P=0.008; 16.00％(8/50) vs 4.49％(14/312),OR=4.054,95％CI:1.605 to 10.243,P=0.004).There were no significant differences in the variant allele and genotypic frequencies of DR4 (rs13278062) between UC group and healthy control group (both P＞0.05).The frequencies of variant allele T and genotype GT+TT of DR4 (rs13278062) of severe UC patients were lower than those of mild and moderate UC patients (23.00％(23/100) vs 36.06％(225/624),OR=0.530,95％CI:0.323 to 0.868,P=0.011;42.00％(21/50) vs 61.22％(191/312),OR=0.459,95％CI:0.250 to 0.8410,P=0.010).There were no significant differences in the variant allele and genotypic frequencies of DR5 (rs1047266)between UC group and healthy control group (both P＞0.05).Conclusions The risk of suffering UC increases in mutant allele G of DR4 (rs20575) carriers.The mutation of DR4 (rs13278062) gene may influence the severity of UC.However,DR5 (rs1047266) gene polymorphism is not related to UC.