Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, Oxfordshire OX1 3PT, United Kingdom.
Cold Spring Harb Perspect Biol. 2020 Mar 2;12(3):a037234. doi: 10.1101/cshperspect.a037234.
Congenital heart disease (CHD) has many forms and a wide range of causes. Clinically, it is important to understand the causes. This allows estimation of recurrence rate, guides treatment options, and may also be used to formulate public health advice to reduce the population prevalence of CHD. The recent advent of sophisticated genetic and genomic methods has led to the identification of more than 100 genes associated with CHD. However, despite these great strides, to date only one-third of CHD cases have been shown to have a simple genetic cause. This is because CHD can also be caused by oligogenic factors, environmental factors, and/or gene-environment interaction. Although solid evidence for environmental causes of CHD have been available for almost 80 years, it is only very recently that the molecular mechanisms for these risk factors have begun to be investigated. In this review, we describe the most important environmental CHD risk factors, and what is known about how they cause CHD.
先天性心脏病(CHD)有多种形式和广泛的原因。临床上,了解病因很重要。这可以估计复发率,指导治疗选择,也可以用来制定公共卫生建议,以降低 CHD 的人群患病率。最近复杂的遗传和基因组方法的出现,导致了 100 多个与 CHD 相关的基因的鉴定。然而,尽管取得了这些巨大的进展,但迄今为止,只有三分之一的 CHD 病例被证明有简单的遗传原因。这是因为 CHD 也可能由寡基因因素、环境因素和/或基因-环境相互作用引起。尽管 CHD 的环境病因已有近 80 年的坚实证据,但直到最近,这些危险因素的分子机制才开始被研究。在这篇综述中,我们描述了最重要的 CHD 环境风险因素,以及它们导致 CHD 的机制。