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Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population

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Homozygosity for mutations in ABC transporter A1 (ABCA1) causes Tangier disease, a rare HDL-deficiency syndrome. Whether heterozygosity for genetic variation in ABCA1 also contributes to HDL cholesterol (HDL-C) levels in the general population is presently unclear. We determined whether mutations or single-nucleotide polymorphisms (SNPs) in ABCA1 were overrepresented in individuals with the lowest 1% (n=95) or highest 1% (n=95) HDL-C levels in the general population by screening the core promoter and coding region of ABCA1. For all nonsynonymous SNPs identified, we determined the effect of genotype on lipid traits in 9,259 individuals from the general population. Heterozygosity for ABCA1 mutations was identified in 10% of individuals with low HDL-C only. Three of 6 nonsynonymous SNPs (V771M, V825I, and R1587K) were associated with increases or decreases in HDL-C in women in the general population and some with consistent trends in men, determined as isolated single-site effects varying only at the relevant SNP. Finally, these results were consistent over time. In conclusion, we show that at least 10% of individuals with low HDL-C in the general population are heterozygous for mutations in ABCA1 and that both mutations and SNPs in ABCA1 contribute to HDL-C levels in the general population.
Original languageEnglish
JournalJournal of Clinical Investigation
Volume114
Issue number9
Pages (from-to)1343-53
Number of pages11
ISSN0021-9738
DOIs
Publication statusPublished - 2004

    Research areas

  • 5' Untranslated Regions, ATP-Binding Cassette Transporters, Adult, Aged, Aged, 80 and over, Alleles, Amino Acid Sequence, Animals, Cholesterol, HDL, Female, Genetic Variation, Genotype, Haplotypes, Heterozygote, Homozygote, Humans, Male, Mice, Middle Aged, Models, Biological, Molecular Sequence Data, Mutation, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Protein Structure, Tertiary, Sequence Homology, Amino Acid

ID: 36539788