亚临床冠状动脉粥样硬化的遗传学
Genetics of Subclinical Coronary Atherosclerosis.
作者信息
Bielak Lawrence F, Peyser Patricia A
机构信息
University of Michigan, Department of Epidemiology, School of Public Health, 1415 Washington Heights, Ann Arbor, MI, 48109, USA.
出版信息
Curr Genet Med Rep. 2018 Sep;6(3):116-123. doi: 10.1007/s40142-018-0145-x. Epub 2018 Jul 13.
PURPOSE OF REVIEW
This review highlights recent findings regarding genetics of coronary artery calcification (CAC), a marker of subclinical atherosclerosis burden, that is a precursor of clinical coronary artery disease.
RECENT FINDINGS
CAC quantity is heritable. Genome wide association studies of common single nucleotide polymorphisms have identified genomic regions explaining ~2.4% of CAC heritability. Low frequency and rare variants explain additional variation in CAC. Evidence suggests that there may be different genetic etiologies for variation in CAC progression than for cross-sectional measures of CAC. Studies integrating multiple -omics data are providing new insights into the pathobiology of subclinical coronary atherosclerosis.
SUMMARY
The future is promising for innovative studies utilizing whole genome sequencing data as well as other -omics such as epigenomic modifications of genes and gene expression. These studies may provide multiple sources of data pointing to the same gene or pathway, thus providing greater confidence in findings.
综述目的
本综述重点介绍了关于冠状动脉钙化（CAC）遗传学的最新研究结果，冠状动脉钙化是亚临床动脉粥样硬化负担的一个标志物，是临床冠状动脉疾病的先兆。
最新研究结果
CAC量具有遗传性。对常见单核苷酸多态性的全基因组关联研究已经确定了一些基因组区域，这些区域解释了约2.4%的CAC遗传力。低频和罕见变异解释了CAC的其他变异。有证据表明，CAC进展的变异可能有与CAC横断面测量不同的遗传病因。整合多种组学数据的研究正在为亚临床冠状动脉粥样硬化的病理生物学提供新的见解。
总结
利用全基因组测序数据以及其他组学（如基因的表观基因组修饰和基因表达）进行的创新性研究前景广阔。这些研究可能提供指向同一基因或途径的多种数据来源，从而提高对研究结果的信心。
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