TY - JOUR
T1 - Effect of ABCA1 mutations on risk for myocardial infarction
AU - Iatan, Iulia
AU - Alrasadi, Khalid
AU - Ruel, Isabelle
AU - Alwaili, Khalid
AU - Genest, Jacques
N1 - Funding Information:
This work was supported by grants MOP 15042 and MOP 62834 from the Canadian Institutes of Health Research. Dr. Genest holds the McGill Novartis Chair of Medicine.
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
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U2 - 10.1007/s11883-008-0064-5
DO - 10.1007/s11883-008-0064-5
M3 - Review article
C2 - 18706283
AN - SCOPUS:55449109190
SN - 1523-3804
VL - 10
SP - 413
EP - 426
JO - Current Atherosclerosis Reports
JF - Current Atherosclerosis Reports
IS - 5
ER -