Effect of ABCA1 Mutations on Risk for Myocardial Infarction
Effect of ABCA1 Mutations on Risk for Myocardial Infarction
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DOI：
10.1007/s11883-008-0064-5
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发表时间：
2008-10-01
影响因子：
5.8
通讯作者：
Genest, Jacques
中科院分区：
文献类型：
--
作者：
Iatan, Iulia;Alrasadi, Khalid;Genest, Jacques
三磷酸腺苷结合盒A1（ABCA1）基因编码细胞磷脂和胆固醇转运蛋白，介导高密度脂蛋白（HDL）生物合成的初始和基本步骤：新生HDL颗粒的形成。ABCA1基因位点的突变导致严重的家族性HDL缺乏症，并且在纯合子形式下导致丹吉尔病。一些研究调查了ABCA 1变异对脂质代谢和冠心病的影响，但它们导致了有争议和不一致的结果。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，这种关联与高密度脂蛋白胆固醇水平无关，这增加了高密度脂蛋白胆固醇水平的测量可能无法提供有关高密度脂蛋白颗粒功能作用的足够信息的可能性。然而，复杂疾病的基因组筛查，如冠心病，特别是HDL缺乏症，可能不会增加额外的信息，从传统的全球心血管风险分层。
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.