摘要
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.
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.
出处
《中华消化杂志》
CAS
CSCD
北大核心
2013年第10期684-689,共6页
Chinese Journal of Digestion
基金
浙江省卫生厅资助项目（2012KYA132）
温州市科技局资助项目（Y20080110）
