Lipoprotein lipase gene polymorphism rs1059611 functionally influences serum lipid concentrations

•rs1059611 was associated with lipid levels in Chinese Han population.•rs1059611 was associated with gene expression levels of LPL in blood cells.•The luciferase activity differed between alleles of rs1059611.•The binding of the transcription factor(s) differed for the alleles of the SNP.

ObjectiveDozens of single nucleotide polymorphisms (SNPs) in the lipoprotein lipase (LPL) gene have been reported to be associated with lipid concentrations. The aim of this study was to validate the association between rs1059611 in the LPL gene and serum lipid concentrations in the Chinese Han population and explore the biological relevance.MethodsA total of 5664 participants were recruited and genotyped for the SNP. Gene expression levels of LPL in blood cells were evaluated by real-time PCR and western blotting analysis. The functional potential of the SNP was examined by luciferase reporter assay and electrophoretic mobility-shift assay (EMSA).ResultsWe observed significant associations between rs1059611 and increased HDL-C (P = 5.65 × 10−5) and decreased TG concentrations (P = 2.68 × 10−7). We also found that participants with the C allele had higher mRNA expression level (P = 0.0334) and protein expression level (P = 0.0641) of LPL. The luciferase activity of the rs1059611 T construct was 0.69-fold of the rs1059611 C construct (P = 0.0009). The EMSA showed that the binding of the transcription factor(s) differed for the alleles of the SNP.ConclusionThe results of our study demonstrated that rs1059611 was associated with HDL-C and TG concentrations in Chinese Han population and might have a functional effect on the transcription of LPL by differential binding of transcription factors.