散发型先天性心脏病ECE1基因多态性分析  

An analysis of ECE1 gene polymorphism in sporadic congenital heart disease

作　　者：周凯[1] 秦玉明[1] 王宇[2] 杨磊[1] 彭卫[1] 莫绪明[1] 

机构地区：[1]南京医科大学附属南京儿童医院心脏病科,江苏省210008 [2]苏州大学附属儿童医院呼吸病科

出　　处：《江苏医药》2016年第1期52-54,共3页Jiangsu Medical Journal

基　　金：南京市医学科技发展项目(YKK13136)

摘　　要：目的 探讨内皮素转化酶1（ECE1）基因C338A和T839G多态性位点对散发型先天性心脏病（CHD）易感性的影响。方法 采用Taqman探针法检测1290例CHD患者和1323例正常对照人群ECE1C338A和T839G基因型,并分析其与散发型CHD发病风险间的相关性。结果与ECE1C338ACC基因型相比,AC、AA＋AC基因型的散发型CHD发病风险增加（OR=1.47、1.43,95%CI=1.24~1.76、1.21~1.69）。与ECE1T839GTT基因型相比,GG＋TG基因型的散发型CHD发病风险增加（OR=1.27,95%CI=1.08~1.51）。女性患者（OR=1.67,95%CI=1.30~2.16）携带2~4个危险等位基因比男性患者（OR=1.43,95%CI=1.15~1.77）更与散发型CHD发病风险相关。携带2~4个危险等位基因的人群与法洛四联征（OR=2.01,95%CI=1.28~3.14）、膜周部室间隔缺损（OR=1.66,95%CI=1.34~2.06）和动脉导管未闭（OR=1.68,95%CI=1.01~2.81）发病风险有关。结论 在中国人群中,ECE1基因C338A和T839G多态性位点可能导致散发型CHD发病风险的增加。Objective To investigate the effect of endothelin-converting enzyme 1 （ECE1） gene polymorphism at C338A and T839G sites on the susceptibility of sporadic congenital heart disease （CHD）. Methods The genotypes of ECE1 C338A and T839G in 1290 children with sporadic CHD and 1323 healthy children were detected by Taqman probe technique. And its association with the risk for sporadic CHD was analyzed. Results Compared with ECE1 C338A CC genotype, the risk for sporadic CHD was increased in AC and AA＋AC genotypes（OR=1.47 and 1.43,95 %CI= 1.24-1.76 and 1.21-1.69）. Compared with ECE1 T839G TT genotype, the risk for sporadic CHD was increased in GG＋TG genotype（OR= 1.27,95 %CI= 1.08-1.51）. Stratification analysis showed that the risk for sporadic CHD in girls with 2-4 risk alleles（OR=l. 67,95%CI= 1.30-2.16） was higher than that in boys（OR= 1.43,95%CI= 1.15-1.77）. Moreover, children with 2-4 risk alleles were closely associated with Fallot tetralogy （OR=2. 01, 95% CI = 1.28-3.14）, perimembranous ventricular septal defect （OR=I. 66,95%C1 = 1.34-2. 06） and patent ductus arteriosus （OR=I. 68, 95% CI= 1.01-2. 81）, respectively. Conclusion ECE1 gene polymorphism at C338A and T839G sites may increase the risk for sporadic CHD in Chinese.

关 键 词：先天性心脏病 内皮素转化酶 基因多态性 

分 类 号：R729[医药卫生—儿科]