TY - JOUR
T1 - Efflux and atherosclerosis - The clinical and biochemical impact of variations in the ABCA1 gene
AU - Singaraja, Roshni R.
AU - Brunham, Liam R.
AU - Visscher, Henk
AU - Kastelein, John J. P.
AU - Hayden, Michael R.
PY - 2003
Y1 - 2003
N2 - Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia. Homozygotes and heterozygotes for mutations in ABCA1 display a wide range of phenotypes. Identification of ABCA1 as the molecular defect in these diseases has allowed for ascertainment based on genetic status and determination of genotype-phenotype correlations and has permitted us to identify mutations conferring a range of severity of cellular, biochemical, and clinical phenotypes. In this study we review how genetic variation at the ABCA1 locus affects its role in the maintenance of lipid homeostasis and the natural progression of atherosclerosis
AB - Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia. Homozygotes and heterozygotes for mutations in ABCA1 display a wide range of phenotypes. Identification of ABCA1 as the molecular defect in these diseases has allowed for ascertainment based on genetic status and determination of genotype-phenotype correlations and has permitted us to identify mutations conferring a range of severity of cellular, biochemical, and clinical phenotypes. In this study we review how genetic variation at the ABCA1 locus affects its role in the maintenance of lipid homeostasis and the natural progression of atherosclerosis
U2 - https://doi.org/10.1161/01.ATV.0000078520.89539.77
DO - https://doi.org/10.1161/01.ATV.0000078520.89539.77
M3 - Review article
C2 - 12763760
SN - 1079-5642
VL - 23
SP - 1322
EP - 1332
JO - Arteriosclerosis, Thrombosis, and Vascular Biology
JF - Arteriosclerosis, Thrombosis, and Vascular Biology
IS - 8
ER -