中文摘要：

研究已经证实血浆高密度脂蛋白胆固醇（HDL-C）水平与冠状动脉疾病（CAD）的发生呈负相关，因此，HDL-C水平的调控成为CAD治疗的研究热点．HDL水平高低与其自身的产生和代谢密切相关，而HDL的产生和代谢主要由相应的调控基因决定，有研究表明，血浆HDL—C水平具有显著的遗传基础，遗传率达到40％-60％，提示研究影响HDL-C水平的遗传性因素具有重要意义．候选基因、全基因组连锁以及近来的全基因组关联（GWA）研究已鉴定出影响血浆HDL—C水平的多种遗传变异，但这些遗传变异并不都与CAD相关，对于其功能性作用还未阐明．本文将分别对HDL的结构、产生和代谢，以及HDL-C水平相关的遗传性因素进行总结，并着重结合候选基因分析以及近来GWA研究的遗传学发现，阐述造成HDL—C水平变化的重要因子．提示运用综合性方法研究影响HDL-C水平的遗传性因素对于阐明HDL—C与CAD的关系，揭示CAD治疗新途径具有重要意义．

英文摘要：

Since the inverse relationship between plasma high-density lipoprotein cholesterol （HDL-C） levels and the risk of coronary artery disease （CAD） have been well-established, it has always been a hot spot on how to regulate HDL-C levels for the treatment of CAD-related disease. High and low HDL levels are closely related to its own production and metabolism, which are primarily determined by corresponding regulatory genes. It has been suggested that plasma HDL-C levels have a strong inherited basis with heritability estimates of 40% -60%, showing the great significance in discussing variants causes associated with HDL-C levels. Candidate gene, genome-wide linkage, and most recently genome-wide association （GWA） studies have identified several genetic variations for plasma HDL-C levels. However, the fimctional role of some variants remains unknown, and they do not always have relation to the risk of CAD. This review will be summarized on the structure of HDL, its metabolism and production, as well as the genetic causes of high and low HDL-C. Notably, recent genetic findings from candidate gene and the GWA studies will be the focus of this text aiming at elucidating the important genetic factors affecting HDL-C concentrations. Comprehensive study on genetics conferring to high and low HDL-C levels using integrative approaches is essential to reveal their relationships with CAD and explore novel pathways on the treatment of CAD.