Institute for Cardiogenetics, University of Lübeck, Maria-Geoppert-Str. 1, Lübeck, Germany.
DZHK (German Research Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, Lübeck, Germany.
Cardiovasc Res. 2018 Jul 15;114(9):1241-1257. doi: 10.1093/cvr/cvy084.
In this review, we summarize current knowledge on the genetics of coronary artery disease, based on 10 years of genome-wide association studies. The discoveries began with individual studies using 200K single nucleotide polymorphism arrays and progressed to large-scale collaborative efforts, involving more than a 100 000 people and up to 40 Mio genetic variants. We discuss the challenges ahead, including those involved in identifying causal genes and deciphering the links between risk variants and disease pathology. We also describe novel insights into disease biology based on the findings of genome-wide association studies. Moreover, we discuss the potential for discovery of novel treatment targets through the integration of different layers of 'omics' data and the application of systems genetics approaches. Finally, we provide a brief outlook on the potential for precision medicine to be enhanced by genome-wide association study findings in the cardiovascular field.
在这篇综述中,我们总结了基于 10 年全基因组关联研究的冠心病遗传学的现有知识。这些发现始于使用 20 万个单核苷酸多态性芯片的个体研究,并发展到涉及超过 10 万人和多达 4000 万个遗传变异的大规模合作努力。我们讨论了未来的挑战,包括鉴定因果基因和破译风险变异与疾病病理学之间联系的挑战。我们还基于全基因组关联研究的发现描述了疾病生物学的新见解。此外,我们讨论了通过整合不同层次的“组学”数据和应用系统遗传学方法来发现新的治疗靶点的潜力。最后,我们简要展望了全基因组关联研究在心血管领域的发现对精准医疗的增强潜力。