Apolipoprotein E polymorphism in a French Canadian population of northeastern Quebec: allele frequencies and effects on blood lipid and lipoprotein levels.

Apolipoprotein E phenotypes and plasma lipid and lipoprotein levels were determined in 435 individuals (233 men, 202 women) of French Canadian descent living in northeastern Quebec. This region is known for its high frequency of mutant genes responsible for rare genetic disorders. Total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglyceride levels were adjusted for age, height, weight, body mass index (BMI), and waist circumference using regressions performed separately in men and in premenopausal and postmenopausal women. The APOE allele frequencies in this population-based sample were 0.137, 0.749, and 0.114 for the *2, *3, and *4 alleles, respectively. APOE2 (APOE 2,2 and APOE 3,2) subjects had lower total and LDL cholesterol levels than APOE3 (APOE 3,3) subjects. In APOE4 (APOE 4,3 and APOE 4,4) men and postmenopausal women levels of total and LDL cholesterol and triglycerides were significantly higher than in the corresponding APOE3 subjects. The *2 allele was also found to be associated with higher triglyceride levels in men and postmenopausal women. Men of the APOE4 group also presented lower HDL cholesterol levels. Although the impact of APOE polymorphism on blood lipid and lipoprotein levels in this French Canadian population is similar to what has been reported in other white populations, the frequency of the *2 allele is among the highest ever reported. This finding is discussed in terms of the founder effect characterizing the Quebec population.