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Article

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

The Journal of clinical investigation - 1 Nov 2004

Pajukanta Päivi

Abstract excerpt

HDL has a key role in reverse cholesterol transport, mobilizing cholesterol from the peripheral tissues to liver. In this process, the ABC transporter A1 (ABCA1) protein controls the efflux of intracellular cholesterol to apoAI, the major apolipoprotein of HDL. Since ABCA1 mutations were discovered to cause Tangier disease, a rare recessive HDL deficiency, it has been speculated that sequence variants in ABCA1...

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Source

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Identifiers

PMID: 15520856
DOI: 10.1172/JCI23466
PMCID: PMC524241

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?PMID 15520856Read ↗

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.Semantic proximity Read ↗

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general populationSemantic proximity Read ↗

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis.Semantic proximity Read ↗

Common and rare ABCA1 variants affecting plasma HDL cholesterol.Semantic proximity Read ↗

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large familySemantic proximity Read ↗

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.Semantic proximity Read ↗

Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease.Semantic proximity Read ↗

ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore.Semantic proximity Read ↗

High-density single-nucleotide polymorphism (SNP) map of the 150-kb region corresponding to the human ATP-binding cassette transporter A1 (ABCA1) gene.Semantic proximity Read ↗

Tangier disease and ABCA1.Semantic proximity Read ↗

Multiple rare alleles contribute to low plasma levels of HDL cholesterol.Semantic proximity Read ↗

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

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