Reverse Cholesterol Transport Pathway |
|
CETP |
16q13 |
Facilitates the exchange of cholesterol esters for TG between lipoproteins in circulation |
Total fat and TG [98]; total fat and TG [108] |
rs5882 |
Missense variant |
G |
0.37 |
ABCA1 |
9q31.1 |
HDL-C bound protein that transports intracellular cholesterol onto HDL-C |
Total fat and HDL [109] |
rs9282541 |
Missense variant |
T |
0.01 |
SFA and TG [108] |
rs2230806 |
Missense variant |
T |
0.32 |
LIPC |
15q21.3 |
Hepatic triglyceride lipase, also involved in lipoprotein uptake |
SFA and HDL, TG [98]; total fat and HDL [110] |
rs1800588 |
Intron variant in promotor region, associated with lowered LIPC activity |
T |
0.29 |
APOA1 |
11q23.3 |
Predominant apolipoprotein on HDL; activator of LCAT |
SFA, total fat, and TC [108] |
rs670 |
Upstream intronic variant |
T |
0.18 |
Total fat and HDL [108] |
rs5070 |
Intron variant |
G |
0.44 |
Cellular Lipid Uptake Pathway |
|
APOE |
19q13.32 |
Present on TG-rich lipoproteins (chylomicrons, VLDL) |
Total fat, SFA, and HDL [98] |
rs405509 |
Upstream variant in promoter region |
T |
0.47 |
CD36 |
7q21.11 |
Scavenger receptor, binds to oxidized LDL and LCFA. |
Oily fish (n-3 PUFA) and HDL [40] |
rs6969989 |
Intron variant |
G |
0.33 |
LPL |
8p21.3 |
Hydrolyzes TG to allow fatty acids from lipoproteins into circulation |
Total fat and HDL [33,110] |
rs328 |
Nonsense variant |
G |
0.10 |
Lipid/Lipoprotein Formation Pathway |
|
APOA5 |
11q23.3 |
Present on HDL particles, stimulates LPL, major determinant of plasma TG concentrations |
Total fat and TC, LDL, HDL [96]; |
rs964184 |
3’ untranslated region (UTR) variant |
G |
0.22 |
Total fat and TG [90] |
rs662799 |
Upstream variant in promoter region |
G |
0.16 |
FADS Complex |
11q12-13.1 |
Desaturation of long-chain fatty acids |
n-3, n-6 PUFAs and HDL [111]; alpha-linolenic acid and non-HDL cholesterol [112] |
rs174546 |
3’ UTR variant |
T |
0.28 |
MLXIPL |
7q11.23 |
Activates carbohydrate-responsive element binding protein and promotes hepatic TG synthesis |
Mediterranean diet and TG [113] |
rs3812316 |
Missense variant |
G |
0.11 |
PPARA |
22q13.31 |
Nuclear receptor in liver, ligand for PUFAs |
n-3 PUFA and TC, LDL |
rs6008259 |
Non-coding transcript variant |
A |
0.32 |
n-6 PUFA and TC, LDL [114] |
rs3892755 |
Non-coding transcript variant |
A |
0.09 |