1. ¹Department of Medicine, Lipid Research Center (CRML), Centre de Recherche du Centre Hospitalier de l'Université Laval du CHUQ, Pavilion CHUL, TR-93, Laval University, 2705 Boulevard Laurier, Sainte-Foy, QC, G1V 4G2, Canada
2. ²Department of Medical Biology, Faculty of Medicine, Unité de Recherche en Génétique Humaine et Moléculaire, Center for the Development, Evaluation and Rational Implementation of Diagnostic Tests (CEDERINDT), Centre de Recherche de l'Hêpital St-François d'Assise du CHUQ, Laval University, Québec, QC, Canada
3. ³Bioinformatic Center, Laval University, QC, Canada

Correspondence: Pierre Julien, Department of Medicine, Lipid Research Center (CRML), Centre de Recherche du Centre Hospitalier de l'Université Laval du CHUQ, Pavilion CHUL, TR-93, Laval University, 2705 Boulevard Laurier, Sainte-Foy, QC, G1V 4G2, Canada. Fax: +1-418-6542145. E-mail: pierre.julien@crchul.ulaval.ca

Received 3 September 2004; Accepted 22 September 2004; Published online 12 November 2004.

Abstract

Hypertriglyceridemia (HTG) is known as a common metabolic disorder associated with increased production, decrease catabolism and/or decreased hepatic uptake of triglyceride (TG)-rich particles. We assessed, in the Québec City population, the allele frequency and haplotype distributions of mutations in genes related to HTG, such as the apolipoprotein E (APOE) (C112R and C158R), the apolipoprotein CIII (APOC3) (C-482T and C3238G) and the peroxisome proliferator-activated receptor alpha (PPAR) (L162V) genes. A total of 938 anonymous unlinked newborns from the metropolitan Québec City area have been genotyped. Allele frequencies observed in the Québec City population differed from known frequencies determined in other Caucasian populations. The co-transmitted allele distribution between the two-marker genotypes APOE/APOC3(C3238G) and APOC3(C-482T)/PPAR(L162V) presented a weak deviation from the assumption of genetic independence. Also, we observed a non-independent distribution of the T-482/G3238 allele combinations within the APOC3 gene, suggesting strong linkage disequilibrium between the C-482T and C3238G polymorphisms. Moreover, comparisons of allele frequencies observed in the population of Québec City to those obtained in other Caucasian populations suggested that the population of Québec City may be at a lower risk of developing HTG due to APOE, APOC3 and PPAR genetic variants. However, the strong linkage disequilibrium and the two-marker genotype distributions observed in the APOC3 gene suggest that these two variants may functionally interact in the Québec City population.