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Article

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

The Journal of clinical investigation - 1 Nov 2004

Frikke-Schmidt Ruth, Nordestgaard Børge G, Jensen Gorm B, Tybjaerg-Hansen Anne

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15520867
DOI: 10.1172/JCI20361
PMCID: PMC524222

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15520867-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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