人三磷酸腺苷结合盒转运蛋白A1基因与冠心病关系的研究进展

Research advances in the association between the adenosine triphosphate-binding cassette transporter A1 geneand coronary heart disease

人三磷酸腺苷结合盒转运蛋白A1（ABCAl）基因呈高度多态性。启动子区（rs2422493、rs2740483等）及编码区（rs2230806、rs4149313等）的一些多态性位点与冠心病相关。ABCAl基因多态性与冠心病的关联机制，一方面通过影响血浆高密度脂蛋白胆固醇及其他脂质水平；另一方面可能通过改变ABCAl蛋白结构及功能。现就ABCAl基因多态性与冠心病的相关性及机制进行综述。

The human adenosine triphosphate-binding cassette transporter A1 （ABCA1）gene is highly polymorphic. Some polymorphisms in promoters （rs2422493, rs2740483, etc. ） and exons （rs2230806, rs4149313, etc. ）have been reported to be significantly associated with coronary heart disease（CHD）. In terms of the underlying mechanisms, ABCA1 gene polymorphisms might be associated with CHD through modulating the levels of high-density lipoprotein cholesterol and other lipids,or through changing ABCA1 protein structure and function. In this article, the association of ABCA1 gene polymorphisms with CHD and the underlying mechanisms are reviewed.