Cardiovascular Institute, Division of Cardiovascular Medicine, Department of Medicine, and Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Broad Institute, Cambridge, MA 02142, USA; Center for Genomic Medicine and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02115, USA.
Cell. 2019 Mar 21;177(1):132-145. doi: 10.1016/j.cell.2019.02.015.
Coronary artery disease represents the leading cause of death worldwide, sparing no nation, ethnicity, or economic stratum. Coronary artery disease is partly heritable. While enormous effort has been devoted to understanding the genetic basis of coronary artery disease and other common, complex cardiovascular diseases, key challenges have emerged in gene discovery, in understanding how DNA variants connect to function, and in translation of genetics to the clinic. We discuss these challenges as well as promising opportunities to bring the work closer to fruition.
冠心病是全球范围内导致死亡的主要原因，没有任何国家、种族或经济阶层能够幸免。冠心病具有部分遗传性。尽管人们已经付出了巨大的努力来了解冠心病和其他常见复杂心血管疾病的遗传基础，但在基因发现、理解 DNA 变异与功能的关系以及将遗传学转化为临床实践方面，仍然面临着关键的挑战。我们讨论了这些挑战以及将这项工作推向成功的有希望的机会。
