Novel rare mutations and promoter haplotypes in ABCA1 contribute to low‐HDL‐C levels
Copyright policy )Novel rare mutations and promoter haplotypes in ABCA1 contribute to low‐HDL‐C levels
The ATP‐binding cassette A1 (ABCA1) protein regulates plasma high‐density lipoprotein (HDL) levels. Mutations in ABCA1 can cause HDL deficiency and increase the risk of premature coronary artery disease. Single nucleotide polymorphisms (SNPs) in ABCA1 are associated with variation in plasma HDL levels. We investigated the prevalence of mutations and common SNPs in ABCA1 in 154 low‐HDL individuals and 102 high‐HDL individuals. Mutations were identified in five of the low‐HDL subjects, three having novel variants (I659V, R2004K, and A2028V) and two with a previously identified variant (R1068H). Analysis of four SNPs in the ABCA1 gene promoter (C‐564T, G‐407C, G‐278C, and C‐14T) identified the C‐14T SNP and the TCCT haplotype to be over‐represented in low‐HDL individuals. The R1587K SNP was over‐represented in low‐HDL individuals, and the V825I and I883M SNPs over‐represented in high‐HDL individuals. We conclude that sequence variation in ABCA1 contributes significantly to variation in HDL levels.
- University of Otago New Zealand
Male, Cholesterol, HDL, Middle Aged, Polymorphism, Single Nucleotide, Haplotypes, Humans, ATP-Binding Cassette Transporters, Female, Promoter Regions, Genetic, ATP Binding Cassette Transporter 1, Aged
Male, Cholesterol, HDL, Middle Aged, Polymorphism, Single Nucleotide, Haplotypes, Humans, ATP-Binding Cassette Transporters, Female, Promoter Regions, Genetic, ATP Binding Cassette Transporter 1, Aged
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).40 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!