Yuan Yuan, Chen Weicheng, Ma Xiaojing, Wang Huijun, Yan Weili, Huang Guoying
Children's Hospital of Fudan University, Shanghai, China, 201102.
Children's Hospital of Fudan University, Shanghai, China, 201102; Shanghai Key Laboratory of Birth Defects, Shanghai, China, 201102.
Early Hum Dev. 2015 Dec;91(12):713-8. doi: 10.1016/j.earlhumdev.2015.08.001. Epub 2015 Aug 29.
Although congenital heart defect (CHD) pedigrees are rare, they are generally taken as evidence of the existence of a genetic etiologic mechanism or environmental factors common to family members, or a combination of both. Therefore, the analysis of CHD pedigrees is important for bridging the gap in our knowledge of its etiology.
To assess the prevalence of CHD and evaluate the nongenetic factors in the CHD patients and healthy controls in the pedigrees.
Observational retrospective study.
Twenty-three CHD pedigrees were involved in the prevalence statistics; thirty-nine CHD cases and fifty-two healthy controls in the CHD pedigrees were included in the family-based noninherited factors analysis.
The three-degree relatives and overall CHD prevalence were calculated. Thirty-four noninherited risk factors were compared between the CHD and control groups, first by univariate analysis and later by multivariable logistic stepwise regression analysis.
The CHD prevalence of the probands' relatives in all pedigrees was 8.0%, and it was 10.9%, 2.9% and 11.9% in first-, second- and third-degree relatives, respectively. The three risk factors, including maternal febrile illnesses (OR=14.2, 95%CI: [1.5 - 133.7]), influenza (OR=6.9 [2.0 - 23.6]) and air pollution (OR=13.5 [2.6 - 70.5]), were strongly associated with a higher risk of CHD in our sample.
For the cluster and high prevalence of CHD in the collected pedigrees, our study confirms that genetic factors play a major role in the pathogenesis of CHD, while environmental factors, such as maternal febrile illnesses, influenza and air pollution, may also increase the burden of risk for CHD pathogenesis.
尽管先天性心脏病（CHD）家系罕见，但通常被视为存在遗传病因机制或家庭成员共有的环境因素，或两者兼有的证据。因此，分析CHD家系对于弥合我们对其病因认识上的差距很重要。
评估CHD的患病率，并评估CHD家系中CHD患者和健康对照的非遗传因素。
观察性回顾性研究。
23个CHD家系参与患病率统计；基于家系的非遗传因素分析纳入了39例CHD病例和52例CHD家系中的健康对照。
计算三级亲属和总体CHD患病率。比较CHD组和对照组之间的34个非遗传危险因素，首先进行单因素分析，然后进行多变量逻辑逐步回归分析。
所有家系中先证者亲属的CHD患病率为8.0%，一级、二级和三级亲属中的患病率分别为10.9%、2.9%和11.9%。包括母亲发热性疾病（OR=14.2，95%CI：[1.5 - 133.7]）、流感（OR=6.9 [2.0 - 23.6]）和空气污染（OR=13.5 [2.6 - 70.5]）这三个危险因素与我们样本中较高的CHD风险密切相关。
对于所收集家系中CHD的聚集性和高患病率，我们的研究证实遗传因素在CHD发病机制中起主要作用，而环境因素，如母亲发热性疾病、流感和空气污染，也可能增加CHD发病的风险负担。
