论文部分内容阅读
目的综合评价RET基因C135G>A,C1296A>G,-5G>A三个位点多态性与先天性巨结肠易感性的关系。方法通过全面检索中英文数据库,收集有关RET基因多态性与先天性巨结肠易感性相关的病例-对照研究,运用Stata11.0软件以不同合并模型对原始数据进行meta分析。经筛选本研究共纳入12篇中英文文献,其中C135G>A位点9篇[1,9],C1296A>G位点3篇[5,6,10],-5G>A位点5篇[6,7,9,11,12]。结果 RET原癌基因中,C135G>A、C1296A>G、-5G>A位点的突变均与先天性巨结肠的易感性升高有关,但C1296A>G中GA+GG/AA(OR=3.768,95%CI=0.942-15.069)与先天性巨结肠发病未见明显关联。结论 RET原癌基因C135G>A、C1296A>G、-5G>A位点的突变与先天性巨结肠的易感性升高有关。
Objective To comprehensively evaluate the relationship between polymorphisms of RET gene C135G> A, C1296A> G and -5G> A and the susceptibility to Hirschsprung ’s disease. Methods A case-control study on RET gene polymorphisms and susceptibility to Hirschsprung’s disease was collected through a comprehensive search of Chinese and English databases. Meta-analysis was performed on the original data using Stata11.0 software. A total of 12 Chinese-English articles were included in the study, of which 9 were C135G> A [1,9], 3 were C1296A> G [5,6,10], and 5 were A> 6, 7, 9, 11, 12]. Results The mutations of C135G> A, C1296A> G and -5G> A in RET proto - oncogene were all associated with the increased susceptibility to Hirschsprung ’s disease, but GA + GG / AA in C1296A> G (OR = 3.768 , 95% CI = 0.942-15.069) had no obvious correlation with the incidence of Hirschsprung’s disease. Conclusion The mutations of RET proto-oncogene C135G> A, C1296A> G and -5G> A are associated with the increased susceptibility to Hirschsprung’s disease.