The Relationship of the C-514T Polymorphism of the Human Hepatic Lipase Gene Promoter with Plasma HDL-C Concentrations in Koreans

BACKGROUND AND OBJECTIVES: Hepatic lipase is a key enzyme in high density lipoprotein-cholesterol (HDL-C) metabolism and may therefore influence the susceptibility to coronary artery disease (CAD). Furthermore, there seems to be genetic variation in the - 514T allele frequency among different races. SUBJECTS AND METHODS: To assess the - 514T allele frequency in Koreans, 99 subjects (54 patients with coronary artery disease & 45 normal controls) were examined by polymerase chain reaction (PCR) and restriction enzyme digestion. The lipid profiles of the subjects were also obtained. RESULTS: The - 514T allele frequency was 0.33 in the CAD group and 0.41 in the normal controls, results which are higher than the equivalent reported for Caucasians. The plasma lipid profiles did not differ significantly between genotypes. CONCLUSION: These data indicate that the Koreans in this study have a higher - 514T allele frequency than that reported for Caucasians. This elevation may be partly responsible for the higher HDL-C level in Koreans, although such polymorphism does not seem to significantly influence plasma HDL-C levels or CAD susceptibility.

Stromelysin Gene Promoter 5A/6A Polymorphism and Risk of Restenosis after Coronary Angioplasty

BACKGROUND: Remodeling of extracellular matrix is one of the main mechanism of restenosis that is the major limitation of percutaneous coronary angioplasty. Stromelysin is one of the matrix metalloproteinase, which catalyze extracellular matrix of the diseased vessels. We studied the effect of 5A/6A stromelysin promotor gene polymorphism on the restenosis after coronary angioplasty. MATERIALS AND METHODS: A total of 64 patients who underwent coronary angioplasty and 6-month follow-up angiogram were enrolled into 4 groups classified by the presence of intracoronary stenting during angioplasty and restenosis in the follow-up angiogram. We analyzed basic clinical data and risk factors for coronary artery disease of all patients. The 5A/6A stromelysin promotor gene polymorphism was analyzed by direct sequencing of polymerase chain reaction products from patient's DNA. RESULTS: We studied clinical data and stromelysin genotype of 51 feasible patients. We found no significant differences of clinical risk factors between the patients with or without restenosis. The allele frequencies of 5A and 6A were 17% and 83% in total study population, 26% and 74% in patient group without restenosis, 6% and 94% in patients with restenosis, respectively. The frequencies of non6A/6A containing 5A allele(5A/5A and 5A/6A) and 6A/6A was 41% and 59% in non-restenotic group and 12.5% and 87.5% in restenotic group. So the relative risk of restenosis for 6A/6A compared to non6A/6A was 4.83(95% CI: 1.15~20.17, p=0.03). CONCLUSION: Our study for stromelysin 5A/6A polymorphism reveals predominance of 6A allele in Korean patients with coronary artery disease. We conclude that 6A/6A homozygote is the possible genetic risk factor for restenosis after percutaneous coronary angioplasty.

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