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

A.J. Hooper, D.A. Marais, D.M. Tanyanyiwa, John Burnett

    Research output: Contribution to journalArticle

    252 Citations (Scopus)

    Abstract

    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 similar to 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 African population.Methods and results: PCSK9 genotypes were determined in 653 black African women attending two antenatal clinics in Zimbabwe. C679X occurred in 3.7% of subjects and was associated with a 27% reduction in LDL-cholesterol (1.6 +/- 0.3 mmol/L versus 2.2 +/- 10.7 mmol/L in non-carriers). We did not observe the Y142X variant.Conclusions: Our results show that the PCSK9 C679X variant has a marked cholesterol-lowering effect.(c) 2006 Elsevier Ireland Ltd. All rights reserved.
    Original languageEnglish
    Pages (from-to)445-448
    JournalAtherosclerosis
    Volume193
    Issue number2
    DOIs
    Publication statusPublished - 2007

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