« Previous
Next »
Atherosclerosis
Volume 188, Issue 2
, Pages 281-291
, October 2006
Functional mutations of the ABCA1 gene in subjects of French–Canadian descent with HDL deficiency
References
- . HDL-cholesterol as a marker of coronary heart disease risk: the Quebec cardiovascular study. Atherosclerosis. 2000;153:263–272
- Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation. 1992;85:2025–2033
- . Atheroprotective effects of high-density lipoproteins. Annu Rev Med. 2003;54:321–341
- . Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science. 2004;305:869–872
- . Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest. 2004;114:1343–1353
- . Molecular and cellular physiology of apolipoprotein A-I lipidation by the ATP-binding cassette transporter A1 (ABCA1). J Biol Chem. 2004;279:7384–7394
- Biogenesis and speciation of nascent apoA-I-containing particles in various cell lines. J Lipid Res. 2005;46:1668–1677
- Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999;22:336–345
- Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet. 1999;354:1341–1346
- Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet. 1999;22:352–355
- The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet. 1999;22:347–351
- Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis. 2001;154:607–611
- Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 2001;103:1198–1205
- . The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary heart disease and hyperlipidaemia. J Mol Med. 2003;81:264–270
- . Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?. J Clin Invest. 2004;114:1244–1247
- Screening for functional sequence variations and mutations in ABCA1. Atherosclerosis. 2004;175:269–279
- . Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler Thromb Vasc Biol. 2003;23:1322–1332
- . R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. The Bogalusa heart study. Metabolism. 2003;52:930–934
- In-depth haplotype analysis of ABCA1 gene polymorphisms in relation to plasma ApoA1 levels and myocardial infarction. Arterioscler Thromb Vasc Biol. 2004;24:775–781
- Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol. 2000;20:1983–1989
- . Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged children. Metabolism. 2004;53:182–186
- . Lipid Research Clinics population studies databook, NIH Publication 80-1527. Washington, DC: Department of Health and Human Services, Public Health Service; 1980;p. 28–81
- . Cellular phospholipid and cholesterol efflux in high-density lipoprotein deficiency. Circulation. 2003;107:1366–1371
- Dastani Z, Dangoisse C, Boucher B, et al. A novel nonsense apolipoprotein A-I mutation (apoA-I(E136X)) causes low HDL cholesterol in French Canadians. Atherosclerosis 2005.
- . Plasma lipids and lipoprotein reference values, and the prevalence of dyslipoproteinemia in Canadian adults. Canadian Heart Health Surveys Research Group. Can J Cardiol. 1999;15:434–444
- Metabolic factors clustering, lipoprotein cholesterol, apolipoprotein B, lipoprotein (a) and apolipoprotein E phenotypes in premature coronary artery disease in French Canadians. Can J Cardiol. 1997;13:253–260
- Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. J Lipid Res. 2000;41:433–441
- . Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I. J Biol Chem. 2002;277:33178–33187
- Human ABCA1 BAC transgenic mice show increased high-density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1. J Biol Chem. 2001;276:33969–33979
- Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem. 2003;278:32569–32577
- Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol. Hum Genet. 2003;112:552–562
PII: S0021-9150(05)00724-0
doi: 10.1016/j.atherosclerosis.2005.10.048
© 2005 Elsevier Ireland Ltd. All rights reserved.
« Previous
Next »
Atherosclerosis
Volume 188, Issue 2
, Pages 281-291
, October 2006
