Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA.
Cell. 2012 Mar 16;148(6):1242-57. doi: 10.1016/j.cell.2012.03.001.
Cardiovascular disease encompasses a range of conditions extending from myocardial infarction to congenital heart disease, most of which are heritable. Enormous effort has been invested in understanding the genes and specific DNA sequence variants that are responsible for this heritability. Here, we review the lessons learned for monogenic and common, complex forms of cardiovascular disease. We also discuss key challenges that remain for gene discovery and for moving from genomic localization to mechanistic insights, with an emphasis on the impact of next-generation sequencing and the use of pluripotent human cells to understand the mechanism by which genetic variation contributes to disease.
心血管疾病包括一系列从心肌梗死到先天性心脏病的病症，其中大多数是遗传性的。人们投入了巨大的努力来了解导致这种遗传性的基因和特定的 DNA 序列变异。在这里，我们回顾了单基因和常见复杂形式的心血管疾病的经验教训。我们还讨论了基因发现和从基因组定位到机制见解的关键挑战，重点是下一代测序的影响以及利用多能人类细胞来理解遗传变异对疾病的贡献机制。
