摘要: |
早发性冠心病的遗传背景包括单基因罕见突变和多基因常见突变累积冠心病。前者的致病基因主要与脂质代谢、血管内皮完整性及内皮功能、血栓形成有关,其中低密度脂蛋白胆固醇代谢相关基因的作用尤为重要;后者遗传背景的研究与常见的多基因复杂疾病相似,主要通过基因组关联研究、表达数量性状位点分析、多基因风险模型建立等基因组学分析工具进行。此外,近年来兴起的高维组学技术和基因调控网络也为解释多基因发病的早发性冠心病的遗传背景提供了新的思路和重要技术支持。 |
关键词: 冠心病 早发性冠心病 基因学 |
DOI:10.12025/j.issn.1008-6358.2021.20200061 |
分类号:R541.4 |
基金项目:国家重点研发项目(2016YFC1301200). |
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Advances in genetic research of premature coronary artery disease |
SU Ya, YAO Kang, GE Jun-bo
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Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
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Abstract: |
The genetic background of premature coronary artery disease (PCAD) includes two categories:rare mutations of single gene and the accumulation of common mutations of multiple genes. The pathogenic genes of the former are mainly related to lipid metabolism, vascular endothelial integrity, endothelial function, and thrombosis, among which LDL-C metabolism-related genes play an important role; the genetic background of the latter is similar to the common polygenic complex diseases, it is mainly investigated by genomic analysis tools, such as genome association analysis, quantitative trait loci analysis, multi-gene risk model and so on. Furthermore, the development of high-dimensional omics technologies and gene regulation networks (GRNs) also provide novel insights and important technical support for the interpretation of the genetic background of polygenic PCAD. |
Key words: coronary artery disease premature coronary artery disease genetics |