CAJ | 학술논문

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1290例先心病患儿及1323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。
목적：탐토내피형일양화담합매（eNOS）기인G10T다태성시부영향산발형선천성심장병（선심병）역감성。방법검측병비교1290례선심병환인급1323례비선심병인동eNOS기인G10T위점적다태성。결과이G10T적CC기인형작위삼조，관찰도AA기인형현저제고료선심병발병적풍험（조정후OR=1.42，95％CI：1.01~2.04）；AA기인형상대CC/AC기인형선심병발병풍험야유현저적제고（조정후OR=1.39，95％CI：1.08~1.92）。대주요적선심병류형진행분층분석，발현휴대G10T AA위험등위기인여막주부실간격결손（조정후OR=1.56，95% CI：1.17~2.47）적발병풍험유관。결론재중국인군중，eNOS기인G10T다태성위점가능도치산발형선심병발병풍험적증가。
ObjectiveTo investigate the association between endothelial NO synthase (eNOS) gene G10T polymorphism and the susceptibility of sporadic congenital heart disease (CHD).MethodsThe genotype oneNOS G10T locus was detected and compared in 1323 children with sporadic CHD and 1323 non-CHD children.ResultsCompared with the CC genotype, the AA genotype signiifcantly increased the risk of CHD (adjustedOR=1.42, 95%CI=1.01-2.04). Compared with the CC/AC geno-type, the AA genotype signiifcantly increased the risk of CHD (adjustedOR=1.39, 95%CI=1.08-1.92). Based on stratiifed analy-sis, the AA genotype was associated with the susceptibility of perimembranous ventricular septal defects (adjustedOR=1.56, 95%CI=1.17-2.47).ConclusionsIn Chinese population, theeNOS G10T polymorphism may increase the susceptibility of sporadic CHD.