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Article

The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population.

Atherosclerosis - 1 Aug 2007

Hooper Amanda J, Marais A David, Tanyanyiwa Donald M, Burnett John R

Abstract excerpt

OBJECTIVE: Missense mutations in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) can cause familial hypercholesterolemia. However, two nonsense variants of PCSK9, Y142X and C679X, found in approximately 2% of black American subjects, are associated with a 28% reduction in mean low density lipoprotein (LDL)-cholesterol. We sought to determine the frequency and effect of these nonsense variants in an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16989838
DOI: 10.1016/j.atherosclerosis.2006.08.039

Genes

PCSK9

Variants

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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