The Frequency Distribution of Apolipoprotein E Genetic Polymorphism and Relationship of Apolipoprotein E Genetic Polymorphism with Development of Coronary Artery Disease in Patients with Familial Hypercholesterolemia.

Objectives: Apolipoprotein E genetic polymorphism was screened in subjects with FH to determine the genetic effects of Apo E polymorphism on basal cholesterol levels, severity of coronary atherosclerosis and response to lipid lowering therapy using HMG CoA reductase inhibitor. Methods: Total C unrelated patients with FH(M:F=24:21, 48.0/11.5yr.) were included in this study. Apolipoprotein E genetic polymorphism was screened. Clinical parameters were checked. Change of lipid profile to lovastatin; 20mg/d(n=19), 4)mg/d(n=12), and of Achilles tendon thickness were analysed. Results: 1) Genotype frequencies of E2/3, 3/3, 4/3 were 8.9, 60.0, 31.1% respectively, and allele frequencies of e 2, e 3, and e 4 were 0.044, 0.800, and 0.155 respectively. 2) Presence and degree of coronary atherosclerosis, the thickness of Achilles tendon and lipid levels were not significantly different by apolipoprotein E genotype, 3) On multivariate study, age, triglyceride and cholesterol /high density lipoprotein were significantly related to presence of coroanry atherosclerosis. 4) Percent reduction of LDL-cholesterol by lovastatin was significantly low in subjects having E4/3 genotype than those having E3/3 genotype (p=0.05; 40mg/d), and the percent reduction of Achilles tendon thickness was significantly low in subjects having E4/3 genotype than those having E3/3 genotype (p=0.037; 20mg/d). Conclusion: The distribution of apolipoprotein E genotype in patients with familial hypercholesterolemia was not significantly different with that in normal subjects. But apolipoprotein E polymorphism may affect the reduction of LDL-cholesterol and Achilles tendon xanthoma with medication of HMG CoA reductase inhibitor in patients with familial hypercholesterolemia.