对11,555个实验对象的基因组分析确定了60个主要的先天性心脏病基因
Michael C Sierant1,2, Sheng Chih Jin2,3,4, Kaya Bilguvar1,5,6,7,8,9
1Department of Genetics, Yale School of Medicine, New Haven, CT 06510.
概括
对先天性心脏病 (CHD) 的基因分析确定了60个与变异负担相关的基因. 新生和遗传变异都对心脏病有重大影响,影响10.1%的婴儿.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 发展生物学 发展生物学
背景情况:
- 在全球范围内,先天性心脏病 (CHD) 是婴儿死亡的主要原因.
- 了解CHD的遗传基础对于诊断和治疗至关重要.
- 以前的研究已经涉及到各种遗传因素,但全面的分析正在进行中.
研究的目的:
- 识别与先天性心脏病中有害变异的重大负担相关的基因.
- 确定 de novo 和传播变异对心血管疾病病因学的相对贡献.
- 探索基因型-表型相关性,包括与特定心脏病亚型和心脏外异常相关的相关性.
主要方法:
- 在248个预先指定的基因中对新突变 (DNM) 和罕见的传播变异进行分析.
- 研究队列包括11,555名患有先天性心脏病的试验者.
- 利用父子三重组来评估变异遗传和透率.
主要成果:
- 确定了60个基因,在心血管疾病中具有显著的异合性破坏性变体负担.
- 这些基因的变异占冠心病病例的10.1%,新发型和传染型变异的贡献相似.
- 观察到特定基因表达模式 (心肌细胞与广大大脑表达) 与孤立的心脏病或神经发育迟缓 (NDD) 之间的关联.
结论:
- 60个已识别的基因中的遗传变异对先天性心脏病有显著的贡献.
- 新生和遗传变异都起着关键的作用,突出显示不完全的透性.
- 遗传检测对心血管疾病的诊断,风险分层和理解相关的神经发育结果具有临床价值.
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