TMX基因多态性与先天性肥厚性幽门狭窄的相关性研究

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% vs 36.67%;83.87% vs 61.67%),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.

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

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.492T>G] 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%,83 87% 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.492T>G] polymorphism is associated with the CHPS in Chinese Han population.