Zhou K, Wang Y, Peng W, Sun J, Qing Y M, Mo X M
Department of Cardiology, The Affiliated Children's Hospital of Nanjing Medical University, Nanjing, China.
Department of Neonatology, The Affiliated Children's Hospital of Soochow University, Soochow, China.
Genet Mol Res. 2014 May 16;13(2):3805-11. doi: 10.4238/2014.May.16.4.
The endothelial NO synthase (eNOS) enzyme is expressed during the early stages of cardiogenesis and plays an important role in normal heart development. Genetic variations of eNOS G894T have been shown to influence individual susceptibility to some phenotypes of congenital heart disease (CHD) in different populations. We conducted a case-control study comprised of 945 CHD patients and 972 non-CHD individuals in a Chinese population. Two functional single nucleotide polymorphisms (SNPs) (T-786C: rs2070744 and G894T: rs1799983) and one tagging SNP (rs7830) were evaluated in our study, and we assessed their association with the risk of CHD. Compared with the rs7830 CC/AC genotypes, the eNOS rs7830 AA genotype showed a significantly increased risk of CHD (adjusted odds radio (OR) = 1.45, 95% confidence interval (CI = 1.13-1.85). A stratified analysis was performed and showed that the association between the rs7830 AA genotype and CHD risk was stronger in patients with perimembranous ventricular septal defects (adjusted OR = 1.62, 95%CI = 1.20-2.20). Our results suggest that the eNOS rs7830 polymorphism may contribute to the susceptibility of sporadic CHD in a Chinese population.
内皮型一氧化氮合酶（eNOS）在心脏发生的早期阶段表达，在正常心脏发育中起重要作用。已表明eNOS G894T的基因变异会影响不同人群中个体对某些先天性心脏病（CHD）表型的易感性。我们在中国人群中进行了一项病例对照研究，包括945例CHD患者和972例非CHD个体。在我们的研究中评估了两个功能性单核苷酸多态性（SNP）（T-786C：rs2070744和G894T：rs1799983）以及一个标签SNP（rs7830），并评估了它们与CHD风险的关联。与rs7830 CC/AC基因型相比，eNOS rs7830 AA基因型显示CHD风险显著增加（调整后的比值比（OR）= 1.45，95%置信区间（CI = 1.13 - 1.85）。进行了分层分析，结果显示rs7830 AA基因型与CHD风险之间的关联在膜周部室间隔缺损患者中更强（调整后的OR = 1.62，95%CI = 1.20 - 2.20）。我们的结果表明，eNOS rs7830多态性可能导致中国人群中散发性CHD的易感性。
