目的　探讨内皮型一氧化氮合酶（eNOS）基因G10T多态性是否影响散发型先天性心脏病（先心病）易感性。方法　检测并比较1 290例先心病患儿及1 323例非先心病儿童eNOS基因G10T位点的多态性。结果　以G10T的CC基因型作为参照，观察到AA基因型显著提高了先心病发病的风险（调整后OR=1.42，95％CI：1.01~2.04）；AA基因型相对CC/AC基因型先心病发病风险也有显著的提高（调整后OR=1.39，95％CI：1.08~1.92）。对主要的先心病类型进行分层分析，发现携带G10T AA危险等位基因与膜周部室间隔缺损（调整后OR=1.56，95% CI：1.17~2.47）的发病风险有关。结论 在中国人群中，eNOS基因G10T多态性位点可能导致散发型先心病发病风险的增加。

Objective To investigate the association between endothelial NO synthase (eNOS) gene G10T polymorphism nd the susceptibility of sporadic congenital heart disease (CHD). Methods The genotype on eNOS G10T locus was detected nd compared in 1323 children with sporadic CHD and 1323 non-CHD children. Results Compared with the CC genotype, the A genotype significantly increased the risk of CHD (adjusted OR=1.42, 95% CI=1.01-2.04). Compared with the CC/AC genotype, he AA genotype significantly increased the risk of CHD (adjusted OR=1.39, 95% CI=1.08-1.92). Based on stratified analysis, he AA genotype was associated with the susceptibility of perimembranous ventricular septal defects (adjusted OR=1.56, 95% CI=1.17-2.47). Conclusions In Chinese population, the eNOS G10T polymorphism may increase the susceptibility of sporadic CHD.