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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, OBJECTIVE, METHODS, RESULTS. Meshes: Cohort Studies, Diacylglycerol Kinase, Humans, Lipids, Lipoproteins, LDL, Metabolic Networks and Pathways, Pedigree, Phosphatidylinositols, Phospholipase C delta, Polymorphism, Genetic, Protein Tyrosine Phosphatases, Non-Receptor, Triglycerides.
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Do phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study? Context: 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. To test the association between MTMR4, PLCD3, and DGKE gene polymorphisms, LDL-PPD and plasma lipid parameters. 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. 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.
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The c.579C>A DGKE gene polymorphism is associated with plasma triglyceride levels, while MTMR4 SNPs seem to predict variations in plasma cholesterol levels. Final Decision: yes