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Article

Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels.

Clinical genetics - 1 Feb 2008

Slatter T L, Jones G T, Williams M J A, van Rij A M, McCormick S P A

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol, HDL

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Share to Polymorphism, Single Nucleotide

Share to Promoter Regions, Genetic

Source

Identifiers

PMID: 18199144
DOI: 10.1111/j.1399-0004.2007.00940.x

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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