摘要
目的 探讨诱骗受体（DcR）1、DcR2及护骨素（OPG）基因的多态性与溃疡性结肠炎（UC）易感性的关系.方法 收集352例UC患者和463例性别、年龄相匹配的健康对照者,采用微测序技术检测DcR1（rs12549481位点）、DcR2（rs1133782位点）及OPG（rs3102735位点）的基因型频率.结果 在显性模型中,UC组DcR2（rs1133782位点）的突变等位基因（A）和基因型（GA＋ AA）频率均低于对照组[6.25％ （44/704）比8.96％（83/926）,P=0.043;11.36％ （40/352）比17.28％（80/463）,P=0.018];而在隐性模型中,UC组OPG（rs3102735位点）的突变等位基因（T）和纯合子突变基因型（TT）的频率均高于对照组[86.36％（608/704）比81.53％（755/926）,P=0.009;75.28％（265/352）比66.95％ （310/463）,P=0.010].采用非条件Logistic回归分析发现,重度UC患者中OPG（rs3102735位点）的突变等位基因（T）的频率明显低于轻-中度患者[76.67％（69/90）比87.79％（539/614）,OR=0.457,95％CI0.265～0.788,P=0.004].而DcR2（rs1 133782位点）基因多态性与UC患者临床病理特征的关联性无统计学意义（P＞0.05）.由于对照组中DcR1基因型分布不符合Hardy-Weinberg平衡规律,故对其未进一步做统计学分析.结论 DcR2（rs1133782位点）基因多态性可能与UC的易感性相关;OPG（rs3102735位点）基因突变不仅会提高UC的患病风险,还可能影响UC的疾病严重程度.
Objective To investigate the correlation between decoy receptor （DcR）1,DcR2 and osteoprotegerin （OPG） gene polymorphisms with the susceptibility to ulcerative colitis （UC） in Chinese population.Methods A total of 352 patients with UC as well as 463 sex-and age-matched healthy controls were recruited in the study.The genetic polymorphisms of DcR1 （rs12549481）,DcR2（rs1133782） and OPG（rs3102735） were determined using a mini-sequencing technique method.Results In the autosomal dominant model,the rates of mutant allele （A） and genotype （GA ＋ AA） of DcR2 （rs1 133782） were lower in UC patients compared to the controls [6.25% （44/704） vs 8.96% （83/926）,P =0.043; 11.36% （40/ 352） vs 17.28% （80/463）,P =0.018,respectively].In the recessive model,moreover,we found that the rates of mutant allele （T） and homozygote （TT） of OPG（rs3102735） were significantly increased in UC patients in contrast with the controls [86.36% （608/704） vs 81.53% （755/926）,P =0.009; 75.28% （265/352） vs 66.95% （310/463）,P =0.010,respectively].By means of unconditional Logistic regression analysis,the rate of mutant allele （T） of OPG （rs3102735） was shown to be significantly decreased in patients with severe UC compared to the other UC patients [76.67% （69/90） vs 87.79% （539/614）,OR =0.457,95% CI 0.265-0.788,P =0.004].Nevertheless,the genetic polymorphism of DcR2（rs1133782） was not significantly related to the clinical features in UC patients.In addition,the genotypic distribution of DcR1 （rs12549481） in control group did not conform to the Hardy-Weinberg equilibrium rule,thus a further statistical analysis was not performed in our study.Conclusions The genetic polymorphism of DcR2 （rs1133782） might be associated with the susceptibility to UC.Not only is the mutation of OPG（rs3102735） gene correlated to the development of UC,but also to the severity of disease.
出处
《中华内科杂志》
CAS
CSCD
北大核心
2014年第7期521-526,共6页
Chinese Journal of Internal Medicine
基金
浙江省自然科学基金资助项目（LY14H030012）
浙江省卫生厅资助项目（2014KYB157）
温州市科技局资助项目（Y20110027）
关键词
结肠炎
溃疡性
TNF相关凋亡诱导配体
基因多态性
诱骗受体
护骨素
Colitis,ulcerative
TNF-related apoptosis-inducing ligand
Genetic polymorphism
Decoy receptor
Osteoprotegerin
