title: Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged children.
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.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Japan.
authors.forename: Kimiko
authors.initials: K
authors.lastname: Yamakawa-Kobayashi
authors.forename: Hisako
authors.initials: H
authors.lastname: Yanagi
authors.forename: YuXing
authors.initials: Y
authors.lastname: Yu
authors.forename: Kazue
authors.initials: K
authors.lastname: Endo
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
authors.forename: Hideo
authors.initials: H
authors.lastname: Hamaguchi
mesh_terms: D024506:5' Flanking Region / Q000235:genetics; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D016632:Apolipoprotein A-I / Q000097:blood*; D015992:Body Mass Index; D002648:Child; D008076:Cholesterol, HDL / Q000097:blood*; D004247:DNA / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D016678:Genome; D006801:Humans; D007564:Japan; D008055:Lipids / Q000097:blood; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014280:Triglycerides / Q000097:blood
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D016632:Apolipoprotein A-I; D008076:Cholesterol, HDL; D008055:Lipids; D014280:Triglycerides; D004247:DNA