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Atherosclerosis. 2007 Aug;193(2):445-8. Epub 2006 Sep 20.

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

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1
Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.

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 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 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.

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