前蛋白转化酶枯草溶菌素9（PCSK9）中的C679X突变存在于一个南部非洲人群中，并能降低血液胆固醇水平。
The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population.
作者信息
Hooper Amanda J, Marais A David, Tanyanyiwa Donald M, Burnett John R
机构信息
Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital, Perth, Australia.
出版信息
Atherosclerosis. 2007 Aug;193(2):445-8. doi: 10.1016/j.atherosclerosis.2006.08.039. Epub 2006 Sep 20.
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.
目的
前蛋白转化酶枯草溶菌素9型基因（PCSK9）中的错义突变可导致家族性高胆固醇血症。然而，在美国黑人受试者中约2%发现的PCSK9的两个无义变体Y142X和C679X与平均低密度脂蛋白（LDL）胆固醇降低28%有关。我们试图确定这些无义变体在非洲人群中的频率和影响。
方法与结果
在津巴布韦两家产前诊所就诊的653名非洲黑人女性中确定了PCSK9基因型。C679X出现在3.7%的受试者中，与LDL胆固醇降低27%有关（非携带者为2.2±0.7 mmol/L，携带者为1.6±0.3 mmol/L）。我们未观察到Y142X变体。
结论
我们的结果表明，PCSK9 C679X变体具有显著的降胆固醇作用。
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