on February 12, 2004
Arteriosclerosis, Thrombosis, and Vascular Biology. 2004
Published online before print February 12, 2004, doi: 10.1161/01.ATV.0000121573.29550.1a
Published online before print February 12, 2004, doi: 10.1161/01.ATV.0000121573.29550.1a
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Submitted on December 10, 2003
Accepted on January 20, 2004
In-Depth Haplotype Analysis of ABCA1 Gene Polymorphisms in Relation to Plasma ApoA1 Levels and Myocardial Infarction
David-Alexandre Tregouet *;
From INSERM U525 (D.-A.T., V.N., O.P., L.T., F.C.), Paris, France; Functional Genomic (S.R., I.A., S.S., M.R., N.D., S.M., P.D., J.-F.D.), Aventis-SA, Evry and Vitry s/Seine, France; Queen’s University Belfast (F.K., A.E.), Northern Ireland, United Kingdom; and the Monica Project (C.M.), Glasgow Royal Infirmary, Scotland, United Kingdom.
* To whom correspondence should be addressed. E-mail: david.tregouet{at}chups.jussieu.fr.
Objective--By regulating the cellular cholesterol efflux from peripheral cells to high-density lipoprotein, the ABCA1 protein is suspected to play a key role in lipid homeostasis and atherosclerosis. Twenty-six polymorphisms of the ABCA1 gene were genotyped and tested for association with plasma levels of ApoA1 and myocardial infarction (MI) in the ECTIM study.
Methods and Results--In addition to single-locus analysis, a systematic exploration of all possible haplotype effects was performed, with this exploration being performed on a minimal set of "tag" polymorphisms that define the haplotype structure of the gene. Two polymorphisms were associated with plasma levels of ApoA1, 1 in the promoter (C-564T) and 1 in the coding (R1587K) regions, whereas only 1 polymorphism (R219K) was associated with the risk of MI. However, no haplotype effect was detected on ApoA1 variability or on the risk of MI.
Conclusion--ABCA1 gene polymorphisms but not haplotypes are involved in the variability of plasma ApoA1 and the susceptibility to coronary artery disease.
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