Effect of ABCA1 mutations on risk for myocardial infarction

Iulia Iatan, Khalid Alrasadi, Isabelle Ruel, Khalid Alwaili, Jacques Genest*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

22 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)413-426
Number of pages14
JournalCurrent Atherosclerosis Reports
Issue number5
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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