Abstract |
ATP-binding cassette transporter A1 (ABCA1) plays an important role in apolipoprotein AI (apoAI)-mediated cholesterol efflux from peripheral cells. The mild changes in ABCA1 activity due to genomic variation might be associated with interindividual variations in serum high-density lipoprotein cholesterol (HDL-C) and apoAI levels, or primary hypoalphalipoproteinemia in the general population. In the present study, we analyzed the relationships between 5 single nucleotide polymorphisms (SNPs) and 2 insertion/deletion polymorphisms in the 5' flanking region and 5 missense polymorphisms of the ABCA1 gene and serum lipid levels in healthy school-aged children. We detected significant associations between the K219R and V771M polymorphisms, and HDL-C or apoAI levels. The present data support the proposition that the K219 allele is an anti-atherogenic allele with increased cholesterol efflux activity. Similarly, the M771 allele appears to be anti-atherogenic, although the frequency of the M771 allele is low.
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Authors | Kimiko Yamakawa-Kobayashi, Hisako Yanagi, YuXing Yu, Kazue Endo, Tadao Arinami, Hideo Hamaguchi |
Journal | Metabolism: clinical and experimental
(Metabolism)
Vol. 53
Issue 2
Pg. 182-6
(Feb 2004)
ISSN: 0026-0495 [Print] United States |
PMID | 14767869
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- ABCA1 protein, human
- ATP Binding Cassette Transporter 1
- ATP-Binding Cassette Transporters
- Apolipoprotein A-I
- Cholesterol, HDL
- Lipids
- Triglycerides
- DNA
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Topics |
- 5' Flanking Region
(genetics)
- ATP Binding Cassette Transporter 1
- ATP-Binding Cassette Transporters
(genetics)
- Adolescent
- Apolipoprotein A-I
(blood)
- Body Mass Index
- Child
- Cholesterol, HDL
(blood)
- DNA
(genetics)
- Female
- Genetic Variation
- Genome
- Humans
- Japan
- Lipids
(blood)
- Male
- Mutation, Missense
(genetics)
- Polymorphism, Genetic
(genetics)
- Reverse Transcriptase Polymerase Chain Reaction
- Triglycerides
(blood)
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