脂质代谢相关基因变异在早发冠心病中作用的研究进展.pdfVIP

HEREDITAS (Beijing) 2008 6 , 30(6): 671―676 ISSN 0253-9772 综 述 DOI: 10.3724/SP.J.1005.2008.00671 许瑛杰, 王绿娅 , 100029 摘要：最新研究表明, 早发冠心病(pCAD)往往具有较强的遗传背景和脂质代谢紊乱等易感基础, 脂代谢相关基 因异常导致各类脂质合成、代谢障碍, 最终血管壁发生动脉粥样硬化, 相关研究多集中在(1) 影响低密度脂蛋 白代谢的基因, 如：低密度脂蛋白受体、载脂蛋白B 、载脂蛋白E 等基因; (2) 影响高密度脂蛋白代谢的基因, 如： ATP 结合盒式转运子、载脂蛋白AI 及脂蛋白脂酶基因; (3) 脂联素基因、低密度脂蛋白受体相关蛋白基因等。 目前已发现这些脂质代谢基因与pCAD 密切相关, 有些基因的突变可造成以pCAD 为特征的遗传性疾病。文章 对上述基因与pCAD 的发生发展进行综述, 以期为冠心病的预防和个体化治疗提供理论依据。 ：早发冠心病; 脂质代谢; 基因变异 Research progress on the association between genetic variations in lipid metabolism and premature coronary artery disease XU Ying-Jie, WANG Lv-Ya Beijing Institute of Heart Lung and Vascular Diseases, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China Abstract: Recent research has demonstrated a strong genetic linkage between premature coronary artery disease (pCAD) and dyslipidemia. Genetic variation in lipid metabolism can lead to impediment of lipid anabolism and catabolism, which promotes vascular arterosclerogenesis. Currently, related studies were focused on: (1) Gene mutations related to low density lipoprotein metabolism, such as low density lipoprotein receptor, apolipoprotein B, apolipoprotein E; (2) Gene mutations related to high density lipoprotein metabolism-related genes, such as ATP binding cassette transporter, apolipoprotein A1, lipoprotein lipase; (3) low density lipoprotein receptor-related genes: Adiponectin. These genes had been proved to be cor- related with pCAD. Mutations of these genes can lead to series of genetic d