Bhandari Vineet, Zhou Gongfu, Bizzarro Matthew J, Buhimschi Catalin, Hussain Naveed, Gruen Jeffrey R, Zhang Heping
Yale University School of Medicine, Department of Pediatrics, 333 Cedar St, PO Box 208064, New Haven, CT 06520-8064, USA.
Pediatrics. 2009 Feb;123(2):669-73. doi: 10.1542/peds.2008-1117.
The most common congenital heart disease in the newborn population, patent ductus arteriosus, accounts for significant morbidity in preterm newborns. In addition to prematurity and environmental factors, we hypothesized that genetic factors play a significant role in this condition.
The objective of this study was to quantify the contribution of genetic factors to the variance in liability for patent ductus arteriosus in premature newborns.
A retrospective study (1991-2006) from 2 centers was performed by using zygosity data from premature twins born at < or =36 weeks' gestational age and surviving beyond 36 weeks' postmenstrual age. Patent ductus arteriosus was diagnosed by echocardiography at each center. Mixed-effects logistic regression was used to assess the effect of specific covariates. Latent variable probit modeling was then performed to estimate the heritability of patent ductus arteriosus, and mixed-effects probit modeling was used to quantify the genetic component.
We obtained data from 333 dizygotic twin pairs and 99 monozygotic twin pairs from 2 centers (Yale University and University of Connecticut). Data on chorioamnionitis, antenatal steroids, gestational age, body weight, gender, respiratory distress syndrome, patent ductus arteriosus, necrotizing enterocolitis, oxygen supplementation, and bronchopulmonary dysplasia were comparable between monozygotic and dizygotic twins. We found that gestational age, respiratory distress syndrome, and institution were significant covariates for patent ductus arteriosus. After controlling for specific covariates, genetic factors or the shared environment accounted for 76.1% of the variance in liability for patent ductus arteriosus.
Preterm patent ductus arteriosus is highly familial (contributed to by genetic and environmental factors), with the effect being mainly environmental, after controlling for known confounders.
新生儿中最常见的先天性心脏病——动脉导管未闭，在早产新生儿中导致了显著的发病率。除了早产和环境因素外，我们推测遗传因素在这种疾病中起着重要作用。
本研究的目的是量化遗传因素对早产新生儿动脉导管未闭患病易感性变异的贡献。
对来自2个中心（1991 - 2006年）的研究进行回顾性分析，使用孕周小于或等于36周出生且出生后存活超过36周月经龄的早产双胞胎的同卵性数据。每个中心通过超声心动图诊断动脉导管未闭。采用混合效应逻辑回归评估特定协变量的影响。然后进行潜在变量概率模型分析以估计动脉导管未闭的遗传度，并使用混合效应概率模型量化遗传成分。
我们从2个中心（耶鲁大学和康涅狄格大学）获得了333对异卵双胞胎和99对同卵双胞胎的数据。单卵双胞胎和双卵双胞胎在绒毛膜羊膜炎、产前使用类固醇、孕周、体重、性别、呼吸窘迫综合征、动脉导管未闭、坏死性小肠结肠炎、吸氧和支气管肺发育不良等方面的数据具有可比性。我们发现孕周、呼吸窘迫综合征和研究机构是动脉导管未闭的显著协变量。在控制了特定协变量后，遗传因素或共同环境占动脉导管未闭患病易感性变异的76.1%。
早产动脉导管未闭具有高度家族性（由遗传和环境因素共同导致），在控制已知混杂因素后，其影响主要为环境因素。
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