Effect of ABCA1 mutations on risk for myocardial infarction.

Abstract

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.

• Authors: Iulia Iatan, Khalid Alrasadi, Isabelle Ruel, Khalid Alwaili, Jacques Genest
• Journal: Current atherosclerosis reports (Curr Atheroscler Rep) Vol. 10 Issue 5 Pg. 413-26 (Oct 2008) ISSN: 1534-6242 [Electronic] United States
• PMID: 18706283 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• ABCA1 protein, human
• ATP Binding Cassette Transporter 1
• ATP-Binding Cassette Transporters
• Cholesterol, HDL

Topics

• ATP Binding Cassette Transporter 1
• ATP-Binding Cassette Transporters (genetics)
• Atherosclerosis (genetics, prevention & control)
• Cholesterol, HDL (blood)
• Coronary Disease (epidemiology, genetics)
• Genetic Variation
• Humans
• Mutation
• Myocardial Infarction (epidemiology, genetics)
• Polymorphism, Single Nucleotide
• Seroepidemiologic Studies