溃疡性结肠炎患者DR4和DR5基因单核苷酸多态性分析  

Association of single nucleotide polymorphisms of DR4 and DR5 gene with ulcerative colitis

作　　者：姜利佳[1] 朱丽明[1] 胡向跃[1] 李成安[1] 金捷[1] 杜君彦[1] 黄志养[1] 黄春伟[1] 蔡静[1] 周晴接[1] 

机构地区：[1]浙江省温州市中心医院,浙江省温州医科大学附属定理医院,325000

出　　处：《实用医学杂志》2015年第22期3684-3687,共4页The Journal of Practical Medicine

基　　金：2013年省卫生厅一般项目(编号:2013KYB251)

摘　　要：目的:探讨死亡受体(DR)4和DR5基因单核苷酸多态性(SNP)与溃疡性结肠炎(UC)的关系。方法:选取163例UC患者和252例对照者,采用直接测序法检测DR4(rs20575)和DR5(rs1047266)的基因多态性。结果:与对照组相比,UC组中DR4(rs20575)突变等位基因G和基因型CG+GG的频率显著升高(6.75%vs.1.39%,P<0.001,OR=5.138;8.59%vs.2.78%,P=0.008,OR=3.289)。分层分析发现重度UC患者中DR4(rs20575)突变基因型CG+GG的频率显著高于轻中度患者(20.83%vs.6.47%,P=0.020,OR=3.801);广泛结肠炎患者中DR4(rs20575)突变等位基因G的频率较远端结肠炎显著降低(2.34%vs.9.60%,P=0.011,OR=0.226)。DR5(rs1047266)的突变等位基因和基因型频率在UC组和对照组之间比较差异无统计学意义(均P>0.05)。结论:DR4(rs20575)基因多态性与UC易感性密切相关,并且可能影响UC的疾病严重程度和病变部位。DR5(rs1047266)基因多态性与UC易感性无关。Objective To investigate the association of death receptor （DR）4 and DR5 gene polymorphisms with ulcerative colitis （UC）. Methods The genotypes of DR4 （rs20575） and DR5 （rs1047266） genes were detected by using DNA sequencing in 163 UC patients and 252 healthy controls. Results Comparedto the healthy controls, the frequencies of variant allele G and genotype CG＋GG of DR4 （rs20575） were significantly increased in the UC patients （6.75% vs 1.39%, P 〈 0.001, OR = 5.138; 8.59% vs 2.78%, P = 0.008, OR = 3.289）. The further stratified analysis showed that the variant genotype CG＋GG of DR4 （rs20575） was significantly higher in patients with severe UC than those with mild and moderated UC（20.83% vs 6.47%, P = 0.020, OR = 3.801 ）. Moreover, variant allele G of DR4 （rs20575） was significantly lower in patients with extensive UC than those with distal UC （2.34% v s 9.60%, P = 0.011, OR = 0.226）. In addition, no significant relationship was found between DR5 （rs1047266） gene polymorphism and UC. Conclusions The DR4 （rs20575） gene polymorphism was associated with the susceptibility, as well as the severity and location, of UC in Chinese patients. However, DR5 （rs1047266） polymorphism was not associated with UC.

关 键 词：溃疡性结肠炎 TRAIL 死亡受体 基因多态性 

分 类 号：R574.62[医药卫生—消化系统]