title: Genetic epidemiology of lipoprotein lipase deficiency in Saguenay-Lac-St-Jean (Québec, Canada).
abstract: Familial hyperchylomicronemia due to the lipoprotein lipase (LPL) activity deficiency (Type I hyperlipoproteinemia) is an autosomal recessive disorder with a prevalence estimated at one case per million. Thirty-four type I individuals are known in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec. The prevalence of type I and LPL deficient heterozygote in this region was estimated at 1/6382 and 1/46 inhabitants respectively. The mean inbreeding coefficient was slightly elevated in the type I group compared with three control groups. The mean kinship coefficient was 15.1 times higher in the type I group than in the control groups. The high prevalence of type I in SLSJ appears to be the result of the emigration of carriers of LPL deficiency from Charlevoix, another isolated region of quebec to the SLSJ region. Endogamy also played a crucial role in increasing the prevalence of type I in SLSJ.
authors.affiliation: Départment des Sciences Humaines, Université du Québec à Chicoutimi, Canada.
authors.forename: C
authors.initials: C
authors.lastname: Dionne
authors.forename: C
authors.initials: C
authors.lastname: Gagné
authors.forename: P
authors.initials: P
authors.lastname: Julien
authors.forename: M R
authors.initials: MR
authors.lastname: Murthy
authors.forename: M
authors.initials: M
authors.lastname: Lambert
authors.forename: G
authors.initials: G
authors.lastname: Roederer
authors.forename: J
authors.initials: J
authors.lastname: Davignon
authors.forename: M R
authors.initials: MR
authors.lastname: Hayden
authors.forename: P J
authors.initials: PJ
authors.lastname: Lupien
authors.forename: M
authors.initials: M
authors.lastname: de Braekeleer
mesh_terms: D002648:Child; D003241:Consanguinity; D006580:Genetic Carrier Screening; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000453:epidemiology / Q000235:genetics*; D015995:Prevalence; D011792:Quebec