Related Experiment Video
Updated: Jul 17, 2026

Differential Effects of Lipid-lowering Drugs in Modulating Morphology of Cholesterol Particles
Published on: November 10, 2017
Influences of the phosphatidylcholine transfer protein gene variants on the LDL peak particle size
G Dolley1, M T Berthier, B Lamarche
1CRML, CHUL Research Centre, 2705 Boul. Laurier, Ste-Foy, Canada.
Background:
The small, dense LDL phenotype is associated with an increased cardiovascular disease risk. A genome-wide scan performed on 236 nuclear families of the Quebec Family Study (QFS) revealed a quantitative trait locus (QTL) affecting LDL peak particle size (LDL-PPD) and density on the 17q21 region. This region contains the phosphatidylcholine transfer protein gene (PCTP). In the liver, phosphatidylcholine transfer protein binds specifically phosphatidylcholine suggesting a role for this protein in the formation of HDL and possibly VLDL phospholipid membranes.
Objectives:
To test the association between two coding polymorphisms (c.29A>C (Glu10Ala) and c.188G>A (Cys63Tyr)) in PCTP gene and the LDL-PPD.
Methods:
LDL-PPD was measured by non-denaturating 2-16% polyacrylamide gradient gel electrophoresis on 623 QFS subjects.
Results:
After adjustment for age and sex, carriers of the c.29C allele showed larger LDL-PPD than A/A homozygotes (p<0.05). These results remained significant when LDL-PPD was further adjusted for the effects of BMI and triglyceride levels (p<0.04). We also observed a three-fold lower risk of having the small (LDL-PPD <256A), dense LDL phenotype in subjects carrying the c.29C allele, when compared to A/A homozygotes (OR=0.35 (95% CI: 0.14-0.91; p=0.03)).
Conclusion:
PCTP gene variants are associated with LDL-PPD.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Blood Studies for Cardiovascular System III: Serum Lipid Profile
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
Phosphoinositides and PIPs
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
Synthesis of Phosphatidylcholine in the ER Membrane
The major components of all eukaryotic cell...
