Quebec Family Study

Gagnon J, Mauriege P, Roy S, Sjo-strom D, Chagnon YC, Dionne FT, Op-pert J-M, Perusse L, Sjostrom L, Bouchard C. The Trp64Arg mutation of the j 3-adrenergic receptor gene has no effect on obesity phenotypes in the Quebec family study and Swedish obese subjects cohorts. J Clin Invest 1996 98 2086-2089. 

Pdrusse L, Desprds JP, Lemieux S, RiceT, Rao DC, Bouchard C. Familial aggregation of abdominal visceral fat level results from the Quebec Family Study. Metabolism 1996 45 378-382. 

Robitaille J, Despres JP, Perusse L, Vohl MC. The PPAR-gamma P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome results from the Quebec Family Study. Clin. Genet. 2003 63 109-116. 

Chagnon, Y. C. et al.. Linkage and association studies between the melanocortin receptors 4 and 5 genes and obesity related phenotypes in the Quebec Family Study, Mol. Med., 3, 663-673,1997. 

Defects in the LDL receptor have been particularly well explored as a basis of the disease familial hypercholesterolemia (93,111). A number of defects that collectively impair LDL receptor trafficking, binding, or deUvery underHe this disease where LDL and semm cholesterol rise to levels that mediate early cardiovascular mortaUty. Studies of the population distribution of this defect can determine the source of the original mutation. Thus, in Quebec, about 60% of the individuals suffering from familial hypercholesterolemia have a particular 10-kdobase deletion mutation in the LDL gene (112). This may have arisen from an original founder of the French Canadian settiement in the seventeenth century. 

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