Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200, Copenhagen, Denmark.
Cell Mol Life Sci. 2014 Apr;71(8):1327-52. doi: 10.1007/s00018-013-1430-1. Epub 2013 Aug 10.
Congenital heart disease (CHD) affects nearly 1 % of the population. It is a complex disease, which may be caused by multiple genetic and environmental factors. Studies in human genetics have led to the identification of more than 50 human genes, involved in isolated CHD or genetic syndromes, where CHD is part of the phenotype. Furthermore, mapping of genomic copy number variants and exome sequencing of CHD patients have led to the identification of a large number of candidate disease genes. Experiments in animal models, particularly in mice, have been used to verify human disease genes and to gain further insight into the molecular pathology behind CHD. The picture emerging from these studies suggest that genetic lesions associated with CHD affect a broad range of cellular signaling components, from ligands and receptors, across down-stream effector molecules to transcription factors and co-factors, including chromatin modifiers.
先天性心脏病（CHD）影响了近 1%的人口。它是一种复杂的疾病，可能由多种遗传和环境因素引起。人类遗传学研究已经确定了 50 多个与人孤立性 CHD 或遗传综合征相关的基因，CHD 是表型的一部分。此外，基因组拷贝数变异的图谱和 CHD 患者的外显子组测序已经确定了大量候选疾病基因。动物模型，特别是小鼠的实验已被用于验证人类疾病基因，并进一步深入了解 CHD 背后的分子病理学。这些研究中出现的情况表明，与 CHD 相关的遗传病变影响了从配体和受体到下游效应分子，再到转录因子和辅助因子（包括染色质修饰因子）等广泛的细胞信号传导成分。
