Background : Lipoprotein lipase (LPL) is a key enzyme in the metabolism of serum
triglyceride (TG) which is utilized in the peripheral tissue as free fatty acid and stored
in adipose tissue. LPL gene consists of 10 exons which encode 475 amino acids and
more than 9 LPL gene polymorphisms have been reported. LPL gene polymorphism is
related to lipids level and the severity of atherosclerosis in coronary artery disease. In
Korea, LPL polymorphism has not been reported yet. The purpose of this study is to
know the incidences of LPL gene polymorphism and it's relationship with blood lipids
level and the severity of atherosclerosis.
Methods : Subjects were divided into three groups ; normal controls (n=50), coronary
artery disease (CAD, n=51) and cerebrovascular disease (CVD, n=52). The
PCR-amplified genomic DNA from peripheral white blood cell was analyzed with
restriction fragment length polymorphism (RFLP) by two different restriction enzymes
(Pvu Ⅱ, Hind Ⅲ).
Results : Total cholesterol (TC) was higher in CVD than in controls and CAD (203±60
㎎/dl vs 188±37, 167±42, p<0.01). Triglyceride (TG) was also elevated in CAD (166±
65㎎/dl vs 122±62 in controls, p<0.05). HDL cholesterol (HDL-C) was higher in controls
than in CVD and CAD (49±9㎎/dl vs 36±10, 44±9, p<0.05). The incidence of hind Ⅲ
RFLP and Pvu Ⅱ RFLP was not different among groups. There was no correlation
between LPL gene RFLP and lipid profile. There was no correlation between LPL gene
RFLP and severity of coronary arterial stenosis. The incidence of Hind Ⅲ RFLP (-/-)
homozygotes was lower in Korean than in other country (5% vs 7-10%). The incidence
of of Pvu Ⅱ RFLP (-/-) homozygotes was lower in Korean than in other country
(10.3% vs 18-29%).
Conclusions : The LPL gene mutations in intron 6 and 8 have no direct effects on the
lipid profiles and the severity of coronary artery disease. Although LPL is a key enzyme
in TG metabolism, two mutations in this study could not change the activity of LPL,
nor were a marker linked to other site of mutation(s). The mutation(s) in exon which
encode amino acid for enzyme activity should be detected to dissect the pathphysiologic
mechanism in the atherogenesis.
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