Effect of lipoprotein lipase gene polymorphism on lipid profile and body mass index in healthy Korean adult / 대한내과학회지

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

Association of Lipoprotein Lipase Gene Polymorphism and Coronary Artery Disease in Korean

BACKGROUND: The accumulation of lipoprotein and monocyte in the intima of the arterial wall is the most important step of the development of coronary artery disease (CAD). Lipoprotein lipase (LPL) plays an anti-atherogenic role by lipolysis of triglyceride-rich lipoproteins, but, it may also act as a receptor of some lipoproteins and monocyte at the arterial wall and act as a atherogenic molecule. Previous studies showed somewhat contradictory results about the association of CAD and LPL polymorphisms and mutations. Racial and dietary difference may contribute to these contradictory results. In this study, we tried to find out the association of CAD and the genetic variation of the LPL (PvuII RFLP in intron 6, HindIII RFLP in intron 8 and Ser 447 Ter mutation in exon 9) in Korean population. METHOD AND RESULT: CAD patients (n=146), confirmed by coronary angiography and healthy Korean adult volunteers (n=110) were genotyped for PvuII/HindIII RFLP and Ser447Ter mutation of the LPL gene by PCR-digestion method. Between two groups, the genotype frequency of these genetic variations was not different. But, the genetic variations showed different effect on lipid profile and body mass index (BMI) in the CAD group and in the control group. In the CAD group, P1 allele carriers showed higher total cholesterol (P1P1+P1P2:P2P2=216+-51 mg/dl:198+/-38 mg/dl, p=0.039) and higher LDL cholesterol level (P1P1+P1P2:P2P2=143+/-46 mg/dl:126+/-36 mg/dl, p=0.047), and H1 allele carriers had lower Body mass index than non-carriers (23.8+/-2.3 kg/m2 :24.8+/-2.9 kg/m2 , p=0.047). In the control group, the Ser447Ter mutation carriers had higher HDL cholesterol level than non-carriers (59+/-10mg/dl versus 53+/-11mg/dl, p=0.049) and patients with P1 allele showed lower body mass index (P1P1+P1P2: P2P2=23.1+/-2.6 kg/m 2 :24.5+/-2.6 kg/m2 , p=0.006). CONCLUSION: In Korean, PvuII/HindIII RFLP and Ser447Ter mutation was not associated with CAD, and they showed different effect on the lipid profile and on the body mass index according to the study group. These results suggests that the phenotypic characteristics of the LPL gene of the Korean people are different from those of occidental people.