Table 3

DNA Sequence Variants in LPL-Regulating Genes Associated With TG and CHD

GenersIDProteinEffect of Variant on Protein FunctionEffect of Mutation on LPL ActivityLipid Phenotype AssociationCHD RiskAllele Frequency in WhitesAllele Frequency in BlacksRef. #
LPLrs1801177
rs328
D36N
S474X
Loss
Gain
Decrease
Increase
↑TG
↓TG

2%
11%
5%
7%
(72)
APOA5rs662799Promoter
-1131T→C
LossDecrease↑TG8%Rare(3)
ANGPTL4rs116843064E40K, T266MLossIncrease↓TG1.6%0.1%(96)
APOC3multipleR19X, IVS2+1 G→A, IVS3+1 G→T, A43TLossIncrease↓TG0.7%
(collective for all 4 mutations)
0.7%
(collective for all 4 mutations)
(99,110,111)

CHD = coronary heart disease; LPL = lipoprotein lipase; TG = triglycerides.