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.
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.
Authors: Hagit Katzov; Anna M Bennet; Kina Höglund; Björn Wiman; Dieter Lütjohann; Anthony J Brookes; Niels Andreasen; Kaj Blennow; Ulf De Faire; Jonathan A Prince Journal: J Hum Genet Date: 2005-12-22 Impact factor: 3.172
Authors: Javier Delgado-Lista; Pablo Perez-Martinez; Francisco Perez-Jimenez; Antonio Garcia-Rios; Francisco Fuentes; Carmen Marin; Purificación Gómez-Luna; Antonio Camargo; Laurence D Parnell; Jose Maria Ordovas; Jose Lopez-Miranda Journal: Arterioscler Thromb Vasc Biol Date: 2010-02-25 Impact factor: 8.311
Authors: Chandra A Reynolds; Mun-Gwan Hong; Ulrika K Eriksson; Kaj Blennow; Anna M Bennet; Boo Johansson; Bo Malmberg; Stig Berg; Fredrik Wiklund; Margaret Gatz; Nancy L Pedersen; Jonathan A Prince Journal: Hum Mutat Date: 2009-09 Impact factor: 4.878