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Effect of apolipoprotein A1 genetic polymorphisms on lipid profiles and the risk of coronary artery disease

机译:载脂蛋白A1基因多态性对血脂和冠心病风险的影响

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Background The disorder of lipid metabolism and genetic predisposition are major risk factors for coronary artery disease (CAD). Variants in the apolipoprotein A1 (APOA1) gene play an important role in the regulation of lipids. The objective of the present study was to investigate the effect of two polymorphisms (-75 G/A and +83 C/T) of APOA1 on lipid profiles and the risk of CAD. Methods A total number of 300 subjects with CAD and 300 age and sex matched healthy controls were enrolled for the study. Genotyping of the APOA1 was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combined with gel electrophoresis, and then confirmed by direct sequencing. Results The frequencies of APOA1 -75 AA genotype [odds ratio (OR) =0.50, 95 % confidence interval (CI)?=?0.28, 0.88; P?=?0.02] and APOA1 -75 A allele (OR =0.76, 95 % CI?=?0.59, 0.98; P?=?0.04) were significantly lower in CAD than in controls. The APOA1 -75 A allele was significantly associated with increasing serum concentrations of ApoA1 and high-density lipoprotein cholesterol (HDL-C) (P?
机译:背景技术脂质代谢紊乱和遗传易感性是冠状动脉疾病(CAD)的主要危险因素。载脂蛋白A1(APOA1)基因的变体在脂质的调节中起重要作用。本研究的目的是研究APOA1的两种多态性(-75 G / A和+83 C / T)对脂质分布和CAD风险的影响。方法总共纳入300名CAD患者和300名年龄和性别相匹配的健康对照者。通过聚合酶链反应-限制性片段长度多态性(PCR-RFLP)结合凝胶电泳进行APOA1的基因分型,然后通过直接测序进行确认。结果APOA1-75 AA基因型频率[比值比(OR)= 0.50,95%置信区间(CI)?=?0.28,0.88; P?=?0.02]和APOA1-75个等位基因(OR = 0.76,95%CI?=?0.59,0.98; P?=?0.04)显着低于对照组。 APOA1 -75 A等位基因与ApoA1血清浓度升高和高密度脂蛋白胆固醇(HDL-C)显着相关(P <0.001)。结论患有APOA1 -75 A等位基因的个体由于其对较高的ApoA1和HDL-C血清浓度的影响而可能具有较低的CAD风险。

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