건강한 한국 성인에서 lipoprotein lipase 유전자의 유전적 다형성이 혈중 지질농도와 체질량 지수에 미치는 영향 = Effect of lipoprotein lipase gene polymorphism on lipid profile and body mass index in healthy Korean adult

다국어 초록 (Multilingual Abstract)

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다국어 초록 (Multilingual Abstract)

Background : Lipoprotein lipase(LPL) plays a pivotal role in triglyceride-rich lipoprotein metabolism. It removes TG-rich lipoprotein from circulation by hydrolysing TG and produces active form of HDL. It also affects the development and maintenance of obesity by regulating the fatty acid metabolism of the adipose tissue. Many studies about the association of the genetic variation of LPL and dyslipidemia have been performed, but the results were not consistent. We tried to characterize the phenotypes of the LPL genetic variation in Korean. Methods : Healthy Korean adults (n=110) were genotyped for Hind III/Pvu II RFLP and Ser447Ter mutation of the LPL gene by PCR-digestion method. We investigated the association of the genetic variations with the lipids, the lipoprotein concentrations and the body mass index(BMI). Results : The allele frequencies of Hind III RFLP, Pvu II RFLP and Ser447Ter mutation were H1:H2=33%:67%, P1:P2=40%:60% and Ser447:Ter447=90%:10%. Ser447Ter mutation carriers had higher HDL cholesterol level than non-carriers (59±10mg/dl versus 53±11mg/dl, p=0.049) and the Pvu II RFLP is associated with increased body mass index.(P1P1:P1P2:P2P2 = 22.1±2.0 kg/m2: 23.5±2.7 kg/m2: 24.5±2.6 kg/m2, p=0.003) Conclusion : The genetic variations of the LPL gene in healthy Korean adult resulted in increased HDL cholesterol and increased BMI. These results were different from previous studies. This difference may reflect the racial difference from the diet and the linkage disequilibrium (Korean J Med 58:57-66, 2000)