Source:http://linkedlifedata.com/resource/pubmed/id/12535741
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2003-1-21
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| pubmed:abstractText |
ATP-binding cassette transporter A1 (ABCA1) transports cellular cholesterol to lipid-poor apolipoproteins. Mutations in the ABCA1 gene are linked to rare phenotypes, familial hypoalphalipoproteinemia (FHA) and Tangier disease (TD), characterized by markedly decreased plasma high-density lipoprotein cholesterol (HDL-C) levels. The aim was to test if the ABCA1 locus is a major locus regulating HDL-C levels in the homogenous Finnish population with a high prevalence of coronary heart disease (CHD). Firstly, the ABCA1 locus was tested for linkage to HDL-C levels in 35 families with premature CHD and low HDL-C levels. Secondly, 62 men with low HDL-C levels and CHD were screened for the five mutations known to cause FHA. Thirdly, polymorphisms of the ABCA1 gene were tested for an association with HDL-C levels in a population sample of 515 subjects. The ABCA1 locus was not linked to HDL-C levels in the CHD families, and no carriers of the FHA mutations were found. The AA596 genotype was associated with higher HDL-C levels compared with the GG and GA genotypes in the women, but not in the men. The G596A genotypes explained 4% and the A2589G genotypes 3% of the variation in plasma HDL-C levels in women. The data suggest that the ABCA1 locus is of minor importance in the regulation of HDL-C in Finns.
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| pubmed:commentsCorrections | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0021-9150
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
166
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
285-90
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:12535741-ATP-Binding Cassette Transporters,
pubmed-meshheading:12535741-Adult,
pubmed-meshheading:12535741-Analysis of Variance,
pubmed-meshheading:12535741-Case-Control Studies,
pubmed-meshheading:12535741-Cholesterol, HDL,
pubmed-meshheading:12535741-Coronary Disease,
pubmed-meshheading:12535741-Female,
pubmed-meshheading:12535741-Finland,
pubmed-meshheading:12535741-Genetic Predisposition to Disease,
pubmed-meshheading:12535741-Genotype,
pubmed-meshheading:12535741-Humans,
pubmed-meshheading:12535741-Incidence,
pubmed-meshheading:12535741-Male,
pubmed-meshheading:12535741-Middle Aged,
pubmed-meshheading:12535741-Mutation,
pubmed-meshheading:12535741-Phenotype,
pubmed-meshheading:12535741-Probability,
pubmed-meshheading:12535741-Risk Assessment,
pubmed-meshheading:12535741-Sampling Studies,
pubmed-meshheading:12535741-Sensitivity and Specificity
|
| pubmed:year |
2003
|
| pubmed:articleTitle |
ATP-binding cassette transporter A1 locus is not a major determinant of HDL-C levels in a population at high risk for coronary heart disease.
|
| pubmed:affiliation |
Department of Internal Medicine and Biocenter Oulu, University of Oulu, P.O. BOX 5000, 90014, Oulu, Finland. sakari.kakko@oulu.fi
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| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|