Korean J Med.  1998 Dec;55(6):1039-1048.

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

• Han KH
• Choe SC
• Kim SY
• Chae IH
• Kim HS
• Sohn DW
• Oh BH
• Lee MM
• Park YB
• Choi YS
• Lee YW

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 (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), 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.

Keyword

familial hypercholesterolemia; apolipoprotein E; polymorphism; lovastatin

MeSH Terms

Achilles Tendon
Apolipoproteins E
Apolipoproteins*
Atherosclerosis
Cholesterol
Coronary Artery Disease*
Coronary Vessels*
Gene Frequency
Genotype
Humans
Hydroxymethylglutaryl CoA Reductases
Hyperlipoproteinemia Type II*
Lipoproteins
Lovastatin
Polymorphism, Genetic*
Triglycerides
Xanthomatosis
Apolipoproteins
Apolipoproteins E
Cholesterol
Hydroxymethylglutaryl CoA Reductases
Lipoproteins
Lovastatin