Iatan Iulia, Alrasadi Khalid, Ruel Isabelle, Alwaili Khalid, Genest Jacques
Faculty of Medicine, Division of Cardiology, McGill University Health Center/Royal Victoria Hospital, 687 Pine Avenue West, Montreal, QC Canada H3A 1A1.
Curr Atheroscler Rep. 2008 Oct;10(5):413-26. doi: 10.1007/s11883-008-0064-5.
The adenosine triphosphate-binding cassette A1 (ABCA1) gene codes for a cellular phospholipid and cholesterol transporter that mediates the initial and essential step in high-density lipoprotein (HDL) biogenesis: the formation of nascent HDL particles. Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease. Several studies have investigated the influence of ABCA1 variation on lipid metabolism and coronary heart disease, but they have resulted in controversial and inconsistent results. Genetic variability at the ABCA1 gene has also been associated with increased risk of myocardial infarction. In one study, this association was independent of HDL cholesterol levels, raising the possibility that the measurement of HDL cholesterol levels may not provide adequate information on the functional roles of HDL particles. Nevertheless, genomic screening for complex diseases, such as coronary heart disease, and HDL deficiency in particular, may not add additional information to that gained from conventional global cardiovascular risk stratification.
三磷酸腺苷结合盒转运体A1（ABCA1）基因编码一种细胞磷脂和胆固醇转运蛋白，该蛋白介导高密度脂蛋白（HDL）生物合成的起始和关键步骤：新生HDL颗粒的形成。ABCA1基因位点的突变会导致严重的家族性HDL缺乏，纯合形式会导致Tangier病。多项研究调查了ABCA1变异对脂质代谢和冠心病的影响，但结果存在争议且不一致。ABCA1基因的遗传变异性也与心肌梗死风险增加有关。在一项研究中，这种关联独立于HDL胆固醇水平，这增加了一种可能性，即HDL胆固醇水平的测量可能无法提供关于HDL颗粒功能作用的充分信息。然而，针对复杂疾病（如冠心病，特别是HDL缺乏）的基因组筛查，可能不会比传统的全球心血管风险分层提供更多额外信息。
