Dorn Gerald W, Cresci Sharon
Washington University Center for Pharmacogenomics, 660 S. Euclid Avenue, Campus Box 8086, St Louis, MO 63110, USA.
Pharmacogenomics. 2009 Feb;10(2):213-23. doi: 10.2217/14622416.10.2.213.
The heart diseases that account for a large amount of morbidity and mortality in the developed world (coronary artery disease, myocardial infarction and heart failure) are phenotypically heterogeneous disorders. It has been suspected for many years that genetics may have an important role in these diseases and their poor outcome. However, their complex and likely polygenic pathophysiology has confounded clear understanding of the genetic contribution to their etiology. Despite technological progress and great promise associated with genome-wide association studies, to date the results of their application to coronary artery disease, myocardial infarction and heart failure have yielded limited insights into these common diseases. This review discusses the current status of genome-wide association studies as they have been applied to these cohorts. The potential limitations of these studies, as well as potential future directions for identifying important genes are also discussed.
在发达国家导致大量发病和死亡的心脏病（冠状动脉疾病、心肌梗死和心力衰竭）是表型异质性疾病。多年来人们一直怀疑遗传学可能在这些疾病及其不良预后中发挥重要作用。然而，它们复杂且可能是多基因的病理生理学使得人们难以清楚地理解遗传因素在其病因中的作用。尽管全基因组关联研究取得了技术进步并带来了巨大希望，但迄今为止，将其应用于冠状动脉疾病、心肌梗死和心力衰竭的结果，对这些常见疾病的了解有限。本综述讨论了全基因组关联研究应用于这些队列的现状。还讨论了这些研究的潜在局限性以及识别重要基因的潜在未来方向。
