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Efflux and atherosclerosis -: The clinical and biochemical impact of variations in the ABCA1 gene
被引:198
|作者:
Singaraja, RR
Brunham, LR
Visscher, H
Kastelein, JJP
Hayden, MR
机构:
[1] Univ British Columbia, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 4H4, Canada
[2] Womens & Childrens Hosp, Vancouver, BC, Canada
[3] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands
关键词:
ABCA1;
genetics;
efflux;
atherosclerosis;
HDL;
D O I:
10.1161/01.ATV.0000078520.89539.77
中图分类号:
R5 [内科学];
学科分类号:
1002 ;
100201 ;
摘要:
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.
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页码:1322 / 1332
页数:11
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