Faita Francesca, Vecoli Cecilia, Foffa Ilenia, Andreassi Maria Grazia
Francesca Faita, Cecilia Vecoli, Ilenia Foffa, Maria Grazia Andreassi, CNR, Institute of Clinical Physiology, 54100 Massa, Italy.
World J Cardiol. 2012 Oct 26;4(10):288-95. doi: 10.4330/wjc.v4.i10.288.
In the last few years, the advent of next generation sequencing (NGS) has revolutionized the approach to genetic studies, making whole-genome sequencing a possible way of obtaining global genomic information. NGS has very recently been shown to be successful in identifying novel causative mutations of rare or common Mendelian disorders. At the present time, it is expected that NGS will be increasingly important in the study of inherited and complex cardiovascular diseases (CVDs). However, the NGS approach to the genetics of CVDs represents a territory which has not been widely investigated. The identification of rare and frequent genetic variants can be very important in clinical practice to detect pathogenic mutations or to establish a profile of risk for the development of pathology. The purpose of this paper is to discuss the recent application of NGS in the study of several CVDs such as inherited cardiomyopathies, channelopathies, coronary artery disease and aortic aneurysm. We also discuss the future utility and challenges related to NGS in studying the genetic basis of CVDs in order to improve diagnosis, prevention, and treatment.
在过去几年中，新一代测序（NGS）技术的出现彻底改变了基因研究的方法，使全基因组测序成为获取全球基因组信息的一种可行方式。最近研究表明，NGS在识别罕见或常见孟德尔疾病的新型致病突变方面取得了成功。目前，预计NGS在遗传性和复杂性心血管疾病（CVD）的研究中将变得越来越重要。然而，NGS应用于CVD遗传学研究这一领域尚未得到广泛探究。在临床实践中，识别罕见和常见的基因变异对于检测致病突变或建立疾病发生风险概况可能非常重要。本文旨在讨论NGS在几种CVD（如遗传性心肌病、离子通道病、冠状动脉疾病和主动脉瘤）研究中的最新应用。我们还将讨论与NGS在研究CVD遗传基础以改善诊断、预防和治疗方面相关的未来效用和挑战。
