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Article

Functional polymorphism in ABCA1 influences age of symptom onset in coronary artery disease patients.

Human molecular genetics - 15 Jun 2007

Kyriakou Theodosios, Pontefract David E, Viturro Enrique, Hodgkinson Conrad P, Laxton Ross C, Bogari Neda, Cooper George, Davies Michael, Giblett Joel, Day Ian N M, Simpson Iain A, Albrecht Christiane, Ye Shu

Abstract excerpt

ATP-binding-cassette-transporter-A1 (ABCA1) plays a pivotal role in intracellular cholesterol removal, exerting a protective effect against atherosclerosis. ABCA1 gene severe mutations underlie Tangier disease, a rare Mendelian disorder that can lead to premature coronary artery disease (CAD), with age of CAD onset being two decades earlier in mutant homozygotes and one decade earlier in heterozygotes than in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17412755
DOI: 10.1093/hmg/ddm091

Genes

ABCA1
CAD

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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