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首页> 外文期刊>International Journal of Environmental Research and Public Health >Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population
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Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 Are Associated with Serum Lipid Profile in Chinese Han Population

机译：PCSK9，LDLR，BCMO1，SLC12A3和KCNJ1中的多态性与中国汉族人群的血脂谱相关。

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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.
机译：不良的血脂水平是引起冠状动脉疾病（CAD），脑梗塞以及其他心血管和脑血管疾病的最重要危险因素。这项研究包括中国南方的2323名汉人。我们收集了个人的医学报告，生活方式细节和血液样本，并使用聚合酶链反应-连接酶检测反应方法对单核苷酸多态性（SNP）进行基因型分析。两个SNP显示出与总胆固醇（TC）相关的有力证据：低密度脂蛋白受体（LDLR）中的rs1003723和rs6413504。 LDLR中的两个SNP显示出与低密度脂蛋白胆固醇（LDL-C），rs1003723和rs6413504相关的有力证据。两个SNP显示出与甘油三酸酯（TG）关联的有力证据，即，前蛋白转化酶枯草杆菌蛋白酶-kexin 9型（PCSK9）中的rs662145和溶质载体家族12成员3（SLC12A3）中的rs11643718。对于TC，LDL-C和TG水平，这些SNP对这些脂质水平产生了强大的综合作用。对于每个其他危险基因，TC增加0.085 mmol / L（p = 7.00×10？6），LDL-C增加0.075 mmol / L（p = 9.00×10？6）。 TG增加0.096 mmol / L（p = 2.90×10×5）。与没有风险等位基因的人相比，具有两个或更多风险等位基因和一个风险基因的人高甘油三酸酯血症，高胆固醇血症和血脂异常的风险增加。 PCSK9，LDLR和SLC12A3的多态性与中国南方人群的血浆脂质水平有关。这些结果为基因筛选和血脂异常的预防提供了理论依据。

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