RET原癌基因多态性与先天性巨结肠易感性关系的meta分析  

RET-protooncogene genetic polymorphisms and Hirschsprung disease susceptibility: a meta-analysis

作　　者：孙鹏[1] 刘磊[2] 王斌[2] 毛建雄[2] 王建尧[2] 林飞飞[2] 陈芳[2] 臧冬东[2] 

机构地区：[1]遵义医学院珠海校区,广东519041 [2]深圳市儿童医院,广东518026

出　　处：《中国优生与遗传杂志》2014年第4期30-32,45,共4页Chinese Journal of Birth Health & Heredity

摘　　要：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 investigate the association of C135G 〉 A, C1296A 〉 G, -5G 〉 A, three single nucleotide pol~,mor- phisms （SNPs） of the gene encoding RET- protooncogene, with the occurrence and development of Hirschsprung disease by a meta a- nalysis. Methods： Through a comprehensive search database in both English and Chinese, we collected relevant RET gene polymor- phism associated ~th congenital megacolon susceptibility of case - control study, Using Statal 1.0 software in different consolidation model analysis of original data, after the screening, 12 articles were included in the study, 9 of them mentioned C135G 〉 A, 6 men- tioned C1296A 〉 G, 3 mentioned - 5G 〉 A. Results ： Our meta - analysis strongly suggested a significant association of these gene （C135G 〉 A, C1296A 〉 G, -5G 〉A） polymorphisms with increased risk of Hirschsprung disease. However, we found no signifi- cant effects of C1296A 〉 G GA ＋ GG/AA （ OR = 3. 768, 95 % CI = 0. 942 - 15. 069） in risk of RET - protooncogene. Conclusions ： Our meta - analysis shows a significant association between these gene （ C135G 〉 A, C1296A 〉 G, - 5G 〉 A） polymorphisms with Hirschsprung disease.

关 键 词：RET原癌基因 先天性巨结肠 单核苷酸多态性 META分析 病例一对照研究 

分 类 号：R726.5[医药卫生—儿科]