Open Biology ( IF 5.8 ) Pub Date : 2020-07-01 , DOI: 10.1098/rsob.200088 Diego Villar 1 , Stephanie Frost 1 , Panos Deloukas 2 , Andrew Tinker 2
Cardiovascular disease collectively accounts for a quarter of deaths worldwide. Genome-wide association studies across a range of cardiovascular traits and pathologies have highlighted the prevalence of common non-coding genetic variants within candidate loci. Here, we review genetic, epigenomic and molecular approaches to investigate the contribution of non-coding regulatory elements in cardiovascular biology. We then discuss recent insights on the emerging role of non-coding variation in predisposition to cardiovascular disease, with a focus on novel mechanistic examples from functional genomics studies. Lastly, we consider the clinical significance of these findings at present, and some of the current challenges facing the field.
中文翻译:
非编码调控元件对心血管疾病的贡献。
心血管疾病占全世界死亡人数的四分之一。跨一系列心血管特征和病理的全基因组关联研究突出了候选基因座内常见非编码遗传变异的流行。在这里,我们回顾了遗传、表观基因组和分子方法,以研究非编码调控元件在心血管生物学中的贡献。然后,我们讨论了关于非编码变异在心血管疾病易感性中的新兴作用的最新见解,重点是来自功能基因组学研究的新机制实例。最后,我们考虑了目前这些发现的临床意义,以及该领域目前面临的一些挑战。