The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population
AJ Hooper, AD Marais, DM Tanyanyiwa, JR Burnett - Atherosclerosis, 2007 - Elsevier
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 …
(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 …
