Li Dong, Budoff Matthew J
Los Angeles Biomedical Research Institute.
Clin Imaging. 2016 Sep-Oct;40(5):917-25. doi: 10.1016/j.clinimag.2016.04.005. Epub 2016 Apr 26.
Coronary artery disease (CAD) continues to be the leading cause of morbidity and mortality globally. Although the etiological mechanisms for CAD have not been fully elucidated, however, most would agree that atherosclerotic plaques progressively narrow the coronary arteries are the earliest manifestations and the principal cause of CAD. The emergence of revolutionary imaging technologies such as cardiac CT angiography, noninvasive computed fractional flow reserve and intravascular ultrasound provided the possibility of detecting and monitoring phenotypes associated with subclinical atherosclerosis. Meanwhile, with the widespread use of high-throughput genotyping pipeline such as next-generation sequencing, combined with big data-driven solutions in bioinformatics, translating the emerging genetic technologies into clinical practice and, therefore, provide valuable insight into the CAD study. In this review, we briefly describe the latest noninvasive cardiac imaging techniques for atherosclerosis-related phenotypes' detection, mainly focusing on the coronary artery calcification, plaque burden and stenosis. Furthermore, we highlight the state-of-the-art genotyping techniques and its application in the field of CAD translational study. Finally, we discuss the clinical relevance of genetics paired with noninvasive imaging in the setting of coronary artery atherosclerosis.
冠状动脉疾病（CAD）仍然是全球发病和死亡的主要原因。尽管CAD的病因机制尚未完全阐明，然而，大多数人会认同，冠状动脉粥样硬化斑块逐渐使冠状动脉狭窄是CAD最早的表现和主要原因。心脏CT血管造影、无创计算机化血流储备分数和血管内超声等革命性成像技术的出现，为检测和监测与亚临床动脉粥样硬化相关的表型提供了可能。与此同时，随着高通量基因分型流程（如下一代测序）的广泛应用，结合生物信息学中大数据驱动的解决方案，将新兴的基因技术转化为临床实践，从而为CAD研究提供有价值的见解。在本综述中，我们简要描述了用于检测动脉粥样硬化相关表型的最新无创心脏成像技术，主要关注冠状动脉钙化、斑块负荷和狭窄。此外，我们强调了最先进的基因分型技术及其在CAD转化研究领域的应用。最后，我们讨论了遗传学与无创成像在冠状动脉粥样硬化背景下的临床相关性。
