Abstract：
OBJECTIVE:Dozens 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. METHODS:A 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). RESULTS:We 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. CONCLUSION:The 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.
journal_name
Atherosclerosisjournal_title
Atherosclerosisauthors
Mo X,Liu X,Wang L,Li H,Lu X,Huang J,Chen J,Cao J,Li J,Chen S,Tang Y,Peng X,Gu Ddoi
10.1016/j.atherosclerosis.2013.05.005subject
Has Abstractpub_date
2013-08-01 00:00:00pages
511-6issue
2eissn
0021-9150issn
1879-1484pii
S0021-9150(13)00308-0journal_volume
229pub_type
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