Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations

Table 3 Minor allele frequencies (%) of PCSK9 exonic variations found in African Canadians

PCSK9 Variant	MAF n = 31	Reported MAF (%) in African Americans^b	Reported effect on LDLC levels in African Americans^b
L10Ins ^a	21 or 30.7 combined		ns
L10Ins (Homozygous)	9.7
H417Q	1.6	0.3^b	↑ 10%
A443T	6.5 or 9.7 combined	9.4^b combined	↓ 4%
A443T (Homozygous)	3.2		↓ 30%
N425S	3.2	1.9	nd
I474V	19.4	22^b	ns
R469W	3.2	0.75^b	nd
H553R	4.8	1.3	↑ 10%
E670G	11.3 or 21.0 combined	26^b combined	↑ 4%
E670G (Homozygous)	9.7		↑ 30%
C679X	1.6	0.72^b	↓ 40%

^aThe L10Ins was NOT linked to the A53V variation and –64C/T intronicvariation from ATG as seen in Canadian Caucasian Population. ^bMAF, minor allele frequency reported by Kotowskiet al 2006. ns: not significant; nd: not determined.

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