Objectives: To investigate the association between the HL gene (LIPC) polymorphism, plasma lipid levels and coronary artery disease (CAD).
Design and methods: One hundred thirty-seven subjects with CAD and 124 age-matched controls were examined by polymerase chain reaction (PCR). The PCR products were analyzed for LIPC genotyping by enzyme digestion.
Results: The allele frequencies of the three polymorphisms in the LIPC gene were not significantly different between the controls and CAD patients. The + allele of the -514 promoter polymorphism was associated with higher total cholesterol (p = 0.05), apolipoprotein (apo) AI (p = 0.04) levels in the men of the normal group, and the apoB level (p = 0.03) in the women of the CAD group without allele effect. The allele frequencies of the -250 and -514 promoter polymorphisms of Koreans were significantly different from those of the white and African American populations studied (p < 0.05).
Conclusions: The -514 promoter polymorphism may fluctuate on the lipid levels due to linkage disequilibria with other polymorphisms of the LIPC gene or nearby genes. The difference of the -250 promoter allele frequencies among the different populations may partially explain the variation of the HDL levels in ethnic groups. To elucidate the more exact associations of LIPC polymorphism with the plasma lipid levels, the precise biochemical mechanisms of the LIPC alleles are required.