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Article

Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease.

JAMA - 4 Jun 2008

Frikke-Schmidt Ruth, Nordestgaard Børge G, Stene Maria C A, Sethi Amar A, Remaley Alan T, Schnohr Peter, Grande Peer, Tybjaerg-Hansen Anne

Abstract excerpt

CONTEXT: Low levels of high-density lipoprotein (HDL) cholesterol are inversely related to cardiovascular risk. Whether this is a causal effect is unclear. OBJECTIVE: To determine whether genetically reduced HDL cholesterol due to heterozygosity for 4 loss-of-function mutations in ABCA1 cause increased risk of ischemic heart disease (IHD). DESIGN, SETTING, AND PARTICIPANTS: Three studies of white individuals from...

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Source

Identifiers

PMID: 18523221
DOI: 10.1001/jama.299.21.2524

Genes

ABCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease.PMID 18523221Read ↗

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Association of Mutations in the Apolipoprotein B Gene with Hypercholesterolemia and the Risk of Ischemic Heart DiseaseSemantic proximity Read ↗

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