Document Detail


Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?
MedLine Citation:
PMID:  15520856     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
HDL has a key role in reverse cholesterol transport, mobilizing cholesterol from the peripheral tissues to liver. In this process, the ABC transporter A1 (ABCA1) protein controls the efflux of intracellular cholesterol to apoAI, the major apolipoprotein of HDL. Since ABCA1 mutations were discovered to cause Tangier disease, a rare recessive HDL deficiency, it has been speculated that sequence variants in ABCA1 might also contribute to variations in plasma HDL cholesterol levels in the general population. A new study provides genetic evidence supporting this hypothesis.
Authors:
Päivi Pajukanta
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Publication Detail:
Type:  Comment; Journal Article; Review    
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  114     ISSN:  0021-9738     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-11-02     Completed Date:  2004-12-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1244-7     Citation Subset:  AIM; IM    
Affiliation:
Department of Human Genetics, David Geffen School of Medicine at UCLA, University of California, Los Angeles, Los Angeles, California 90095-7088, USA. ppajukanta@mednet.ucla.edu
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MeSH Terms
Descriptor/Qualifier:
ATP-Binding Cassette Transporters / blood,  genetics*
Cholesterol / metabolism
Cholesterol, HDL / blood*,  genetics
Exons
Genetic Variation
Humans
Lipid Metabolism
Liver / metabolism
Models, Biological
Mutation
Phenotype
Tangier Disease / genetics
Chemical
Reg. No./Substance:
0/ATP binding cassette transporter 1; 0/ATP-Binding Cassette Transporters; 0/Cholesterol, HDL; 57-88-5/Cholesterol
Comments/Corrections
Comment On:
J Clin Invest. 2004 Nov;114(9):1343-53   [PMID:  15520867 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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