title: Gene polymorphisms in the Quebec population: a risk to develop hypertriglyceridemia.
abstract: In Eastern Québec, two major lipoprotein lipase (LPL) gene mutations, P207L and G188E, lead to complete LPL deficiency in homozygote subjects and contribute to elevated predisposition to hypertriglyceridemia in heterozygotes. First, we determined the allele frequencies of LPL (D9N, G188E, P207L, D250N, N291S, and S447X), APOE (C112R and C158R), PPARalpha (L162V), and PPARgamma2 (P12A) single nucleotide polymorphisms (SNPs) in a random-based cohort of the metropolitan Québec city area. Second, we compared the LPL X447 allele frequencies observed in the random cohort and in a cohort of LPL P207L deficient patients. In the random cohort, the LPL N9 rare allele exhibited a higher prevalence than previously expected (p=0.0001). The LPL X447 allele frequency was lower in the patient cohort (Freq: 4.4%) than in the random cohort (Freq: 11.2%) (p=0.0001). These results reveal the importance of genetic screening for LPL gene mutations D9N and S447X in a population at risk to develop hypertriglyceridemia.
authors.affiliation: Department of Medicine, Lipid Research Center (CRML), Centre de Recherche du Centre Hospitalier de l'Université Laval du CHUQ, TR-93, Laval University, Sainte-Foy, Que., Canada G1V 4G2.
authors.forename: Christophe
authors.initials: C
authors.lastname: Garenc
authors.forename: Samuel
authors.initials: S
authors.lastname: Aubert
authors.forename: Jerôme
authors.initials: J
authors.lastname: Laroche
authors.forename: Jean
authors.initials: J
authors.lastname: Bergeron
authors.forename: Claude
authors.initials: C
authors.lastname: Gagné
authors.forename: François
authors.initials: F
authors.lastname: Rousseau
authors.forename: Pierre
authors.initials: P
authors.lastname: Julien
mesh_terms: D015331:Cohort Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008071:Lipoprotein Lipase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D011792:Quebec / Q000453:epidemiology; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D008071:Lipoprotein Lipase