e55ad154-2de0-4942-a346-b37492cfbde6
title
In-depth haplotype analysis of  ABCA1  gene polymorphisms in relation to plasma  ApoA1  levels and myocardial infarction.
42f5a3a9-5d68-4aa4-b313-7f8714e08415
abstract
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. CONCLUSIONS:  ABCA1  gene polymorphisms but not haplotypes are involved in the variability of plasma  ApoA1  and the susceptibility to coronary artery disease.