Consanguinity and the risk of congenital heart disease.
Consanguinity and the risk of congenital heart disease.
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DOI：
10.1002/ajmg.a.35272
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发表时间：
2012-05
影响因子：
2
通讯作者：
Hudgins, Louanne
中科院分区：
文献类型：
--
作者：
Shieh, Joseph T. C.;Bittles, Alan H.;Hudgins, Louanne
近亲结合与各种形式的遗传病的易感性增加有关。尽管血缘关系已知会导致隐性疾病，但血缘关系在某些常见出生缺陷中的潜在作用尚不清楚，特别是因为这种疾病的病理生理学可能涉及遗传和环境/表观遗传因素。在这项研究中，我们询问血缘关系是否会影响最常见的出生缺陷之一--先天性心脏病，并确定对这些出生缺陷进行进一步研究的领域，因为血缘关系现在可能会在几乎全球的基础上影响健康。对先天性心脏病的血缘关系进行了系统的回顾，重点是非综合征性疾病，并比较了不同民族人群的研究方法和结果。先天性心脏病的风险已经被集体和按个别病变进行了评估和总结。大多数研究支持这样的观点，即血缘关系会增加先天性心脏病的患病率，但研究设计却截然不同。只有少数(n=3)以人群为基础的研究控制了潜在的社会人口学混杂，关于单个心脏损害的数据受到病例数量的限制。总体而言，研究结果表明，在研究人群的近亲结合中，先天性心脏病的风险增加，主要是在近亲水平和更近的水平上，这是在遗传咨询的经验性风险估计中应该考虑的一个因素。然而，为了更准确地估计风险，需要更好地了解潜在的疾病因素。
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however the study designs differed dramatically. Only a few (n = 3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed.
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