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A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9
Published on: August 28, 2018
Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han
Zheng Li1, Tianyu Zhao1,2, Xiaohua Tan1
1Medical School, Hangzhou Normal University, Hangzhou 310000, China.
Insights
Genetic variations in PCSK9, LDLR, and SLC12A3 influence lipid levels, increasing risks for high cholesterol and triglycerides. This research aids in genetic screening for dyslipidemia prevention.
Area of Science:
- Genetics and Cardiovascular Health
Background:
- Unfavorable serum lipid levels are primary risk factors for cardiovascular and cerebrovascular diseases.
- Dyslipidemia, including high total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG), significantly contributes to disease risk.
Purpose of the Study:
- To investigate the association between single-nucleotide polymorphisms (SNPs) in specific genes and plasma lipid levels in a Han Chinese population.
- To identify genetic markers that predict the risk of dyslipidemia and related cardiovascular conditions.
Main Methods:
- Genotyping of 2323 individuals using polymerase chain reaction-ligase detection reaction (PCR-LDR).
- Analysis of medical reports, lifestyle details, and blood samples to correlate SNPs with lipid profiles.
- Statistical analysis to determine the association and combined effects of SNPs in LDLR, PCSK9, and SLC12A3 genes.
Main Results:
- Two SNPs (rs1003723, rs6413504) in the LDLR gene were strongly associated with TC and LDL-C levels.
- Two SNPs (rs662145 in PCSK9, rs11643718 in SLC12A3) were associated with TG levels.
- Each additional risk allele significantly increased TC, LDL-C, and TG levels, with combined effects observed. Increased risk of hypertriglyceridemia, hypercholesterolemia, and dyslipidemia was noted with multiple risk alleles.
Conclusions:
- Polymorphisms in PCSK9, LDLR, and SLC12A3 are significantly associated with plasma lipid levels in southern Chinese individuals.
- These findings provide a genetic basis for understanding dyslipidemia.
- The study supports the potential for gene screening in the prevention of dyslipidemia and associated cardiovascular diseases.
Abstract:
Unfavorable serum lipid levels are the most important risk factors for coronary artery disease (CAD), cerebral infarction, and other cardiovascular and cerebrovascular diseases. This study included 2323 Han Chinese in southern China. We collected medical reports, lifestyle details, and blood samples of individuals and used the polymerase chain reaction-ligase detection reaction method to genotype single-nucleotide polymorphisms (SNPs). Two SNPs showed a strong evidence of association with total cholesterol (TC): rs1003723 and rs6413504 in the low-density lipoproteins receptor (LDLR). Two SNPs in LDLR showed a strong evidence of association with low-density lipoprotein cholesterol (LDL-C), rs1003723 and rs6413504. Two SNPs showed a strong evidence of association with triglycerides (TG), namely, rs662145 in pro-protein convertase subtilisin-kexin type 9 (PCSK9) and rs11643718 in the solute carrier family 12 member 3 (SLC12A3). For the TC, LDL-C, and TG levels, these SNPs generated strong combined effects on these lipid levels. For each additional dangerous gene, TC increased by 0.085 mmol/L (p = 7.00 × 10-6), and LDL-C increased by 0.075 mmol/L (p = 9.00 × 10-6). The TG increased by 0.096 mmol/L (p = 2.90 × 10-5). Compared with those bearing no risk alleles, the risk of hypertriglyceridemia, hypercholesterolemia, and dyslipidemia increased in those with two or more risk alleles and one risk gene. Polymorphisms of PCSK9, LDLR, and SLC12A3 were associated with the plasma lipid levels in people in southern China. These results provide a theoretical basis for gene screening and the prevention of dyslipidemia.
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