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 / 대한내과학회지

ABSTRACT

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 45 unrelated patients with FH (MF= 2421, 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), 40mg/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 epsilon2, epsilon3, and epsilon4 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.