TMX基因多态性与先天性肥厚性幽门狭窄的相关性研究  

The association between TMX gene single nucleotide polymorphism with congenital hypertrophic pyloric stenosis

作　　者：冯志强[1] 聂玉强[1] 

机构地区：[1]广州医学院附属市一人民医院消化内科广州市消化病重点实验室,广州510180

出　　处：《广东医学》2010年第6期703-706,共4页Guangdong Medical Journal

基　　金：广州市卫生局重点项目(编号:2007-Zdi-10)

摘　　要：目的探讨硫氧还蛋白相关跨膜蛋白1基因(thioredoxin-related transmembrane protein 1,TMX)多态性位点rs7161242[c.492T>G]与先天性肥厚性幽门狭窄(congenital hypertrophic pyloric stenosis,CHPS)发病的关系。方法采用病例-对照的方法,应用PCR和测序对31例CHPS散发病例及60例无血缘关系正常对照者针对TMX基因位点rs7161242[c.492T>G]多态性进行检测,分析rs7161242[c.492T>G]多态性与中国汉族人群CHPS之间的相关性;并采用在线软件对此多态性位点是否影响RNA的二级结构进行预测。结果CHPS组的GG基因型频率及G等位基因频率均明显高于正常对照(70.97%vs36.67%;83.87%vs61.67%),携带G等位基因的纯合子GG发病风险明显增加(OR=4.222,95%CI:1.655～10.772,P=0.002);此位点位于第6外显子剪接受点(acceptor site)区域内,TT基因型的自由能及最大熵值均低于GG基因型。结论硫氧还蛋白相关跨膜蛋白1基因rs7161242[c.492T>G]多态性与中国汉族人群CHPS发病相关,GG基因型为CHPS发病的危险因素。Objective To investigate the association between the thioredoxin-related transmembrane protein 1 gene（TMX） polymorphism with congenital hypertrophic pyloric stenosis（CHPS） in Chinese Han population.Methods Case-control association study was performed in 31 sporadic CHPS cases and 60 unrelated healthy controls.The rs7161242[c.492TG] polymorphism in TMX was genotyped by polymerase chain reaction and DNA sequencing.Allele and genotype frequencies were compared between the two cohorts using Chi-square test.The RNA secondary structure prediction was performed using online software.Results The frequencies of GG genotype and G allele were significantly higher in CHPS group than those in controls（70.97% vs 36.67%,8387% vs 61.67%）.Homozygote of G allele significantly increased the risk of CHPS（OR=4.222,95%CI：1.655~10.772,P=0.002）.Online software analysis indicated that the free energy and the maximum entropy in TT genotype were lower than those in GG genotype.Conclusion TMX rs7161242 [c.492TG] polymorphism is associated with the CHPS in Chinese Han population.

关 键 词：先天性肥厚性幽门狭窄 TMX 基因多态性 rs7161242 

分 类 号：R726.566.3[医药卫生—儿科]