Variation of the promoter of apolipoprotein C-III with hyperlipidemic patients / 대한내과학회지

ABSTRACT

BACKGROUND: Hypertriglyceridemia and hypercholesterolemia have been associated with atherosclerosis, myocaridal infarction, and premature death. However, the causes of hyperlipidemia are not well understood. Variations in apolipoprotein C-III (apo C-III) are candidate for contributing to the occurrence of hypertriglyceridemia. A genetically variant form of human apo C-III promoter, containing five single base pair changes, has been shown that it seems to be associated with hypertriglyceridemia. Especially, the loss of insulin regulation was mapped to polymorphic sites at -482 and -455, which fall within an insulin response element. METHODS: We studied 146 subjects with hyperlipidemia and also had 94 controls. Screening for mutations at codon -482 and -455 of apo C-III promoter were carried out by PCR-RFLP analyses. RESULTS: 1) In the codon -482 site of the patient group, the genotype frequency of T/T homozygote was higher than in the control group, whereas the frequency of T/C heterozygote and C/C homozygote were lower. 2) Serum triglyceride related to genotype shows positive correlation trend with freguency of -482 T allele and -455 C allele, but has not stastistical significancy. 3) In complete mutated groups of both -482 T/T and -455 C/C in hyperlipidemia patients, serum triglyceride and fasting blood glucose are higher than in wild type groups of both -482 C/C and -455 T/T. CONCLUSION: We suggest that variations of the promoter of apolipoprotein C-III may be a genetic marker in patients with hyperlipidemia.