Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study
Guillaume Dolley1, Benoît Lamarche, Jean-Pierre Després
1CRML, CHUQ Research Center, 2705 Laurier Boulevard, Que., 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 QTL for LDL-peak particle size (LDL-PPD) on the 17q21 region. Three positional candidates were identified in this region according to their implication in the phosphoinositide (PI) cycle: the myotubularin-related protein 4 (MTMR4), the phospholipase C, delta 3 (PLCD3), and the diacylglycerol kinase E (DGKE) genes.
Objectives:
To test the association between MTMR4, PLCD3, and DGKE gene polymorphisms, LDL-PPD and plasma lipid parameters.
Methods:
Analyses were performed on 680 subjects of QFS. LDL-PPD was measured by gradient gel electrophoresis on non-denaturating 2-16% polyacrylamide gradient gels. Direct sequencing was performed to identify genetic variations within these genes.
Results:
The c.-754G>C, c.183G>A, and c.579C>A DGKE SNPs were significantly associated with higher plasma triglyceride levels (p=0.029, p=0.008, p=0.001, respectively). The c.508C>G and c.890T>G MTMR4 polymorphisms were associated with plasma total-cholesterol concentrations (p=0.02, p=0.02, respectively), while no association was observed with PLCD3 gene polymorphisms.
Conclusion:
The c.579C>A DGKE gene polymorphism is associated with plasma triglyceride levels, while MTMR4 SNPs seem to predict variations in plasma cholesterol levels.
More Related Videos
10:31A Liposome Membrane Permeability Assay for Investigating the Effects of Phosphatidylinositol Phosphate Groups on Membranotropic Action of Venom PLA2
Published on: September 26, 2025
10:52Radiolabeling and Quantification of Cellular Levels of Phosphoinositides by High Performance Liquid Chromatography-coupled Flow Scintillation
Published on: January 6, 2016
Related Concept Videos
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...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetics of Drug Metabolism: Overview
