Personne : Bouchard, Claude
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Bouchard
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Claude
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Université Laval. Département de kinésiologie
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ncf10057564
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Publication Restreint Influences of the phosphatidylcholine transfer protein gene variants on the LDL peak particle size(Elsevier, 2021-01-30) Bouchard, Claude; Berthier, Marie-Thérèse; Pérusse, Louis; Dolley, Guillaume; Lamarche, Benoît; Vohl, Marie-Claude; Després, Jean-PierreBackground: 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 <256 Å), 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.