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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

264 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 ∼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 ± 0.7 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.

Original languageEnglish
Pages (from-to)445-448
Number of pages4
JournalAtherosclerosis
Volume193
Issue number2
DOIs
Publication statusPublished - Aug 2007
Externally publishedYes

Keywords

  • Cholesterol
  • Mutation
  • Nonsense
  • PCSK9

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