Effect of ABCA1 mutations on risk for myocardial infarction.
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.
Iatan
Iulia
I
Faculty of Medicine, Division of Cardiology, McGill University Health Center/Royal Victoria Hospital, 687 Pine Avenue West, Montreal, QC Canada H3A 1A1.
Alrasadi
Khalid
K
Ruel
Isabelle
I
Alwaili
Khalid
K
Genest
Jacques
J
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D050197:Atherosclerosis / Q000235:genetics / Q000517:prevention & control; D008076:Cholesterol, HDL / Q000097:blood; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016036:Seroepidemiologic Studies
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL