Smirnov G P, Malyshev P P, Rozhkova T A, Zubareva M Y, Shuvalova Y A, Rebrikov D V, Titov V N
City Polyclinic № 212 of the Moscow Healthcare Department, Moscow, 119620.
National Medical Research Center of Cardiology, Moscow, 121552.
Klin Lab Diagn. 2018;63(7):410-413.
The aim of this work was to assess the relationship of rs2230806 SNP of ABCA1 with lipid profile in patients with severe dyslipidemia. The study included 363 patients (42.8% of males), the average age was 48.7 years, 35.5% of patients received hypolipidemic drugs (mainly statins). Quantitative determination of total cholesterol (ТС) and triglycerides (TG) in fasting serum was carried out by a unified enzymatic method, and high density lipoproteins (HDL) - by a direct homogeneous method. Genotype according to the rs2230806 position in the ABCA1 gene was determined by polymerase chain reaction (PCR) «in real time» using adjacent samples and melting reaction products after PCR. The frequencies of alleles and genotypes of variant rs2230806 of ABCA1 gene in patients with dyslipidemia did not differ from those in the control group of healthy individuals (athletes). The levels of plasma lipids - TC, TG and HDL cholesterol, on average, in patients with dyslipidemia were 7.8±3,4, 3,4±6,5 and 1.29±0.4 mmol/l, respectively. Compared to different genotypes, the plasma lipid concentrations did not differ significantly, but the analysis of different inheritance models of the allelic variant studied showed a significant association with the level of TG in the additive model, in which each minor allele (a) further enhanced the effect on the level of plasma TG at 1.02 mmol/l (p=0.044). The results of this study demonstrate the effect of a common variant rs2230806 of the ABCA1 gene on the plasma TG level in patients with severe dyslipidemia.
这项工作的目的是评估ABCA1基因的rs2230806单核苷酸多态性（SNP）与重度血脂异常患者血脂谱之间的关系。该研究纳入了363例患者（男性占42.8%），平均年龄为48.7岁，35.5%的患者接受了降脂药物治疗（主要是他汀类药物）。采用统一的酶法对空腹血清中的总胆固醇（ТС）和甘油三酯（TG）进行定量测定，采用直接均相法对高密度脂蛋白（HDL）进行测定。通过实时聚合酶链反应（PCR），利用相邻样本和PCR后的熔解反应产物，确定ABCA1基因rs2230806位点的基因型。血脂异常患者中ABCA1基因变异rs2230806的等位基因和基因型频率与健康个体（运动员）对照组无差异。血脂异常患者血浆脂质——TC、TG和HDL胆固醇的平均水平分别为7.8±3.4、3.4±6.5和1.29±0.4 mmol/l。与不同基因型相比，血浆脂质浓度无显著差异，但对所研究等位基因变异的不同遗传模型分析显示，在加性模型中与TG水平存在显著关联，即每个次要等位基因（a）使血浆TG水平进一步升高1.02 mmol/l（p=0.044）。本研究结果表明ABCA1基因常见变异rs2230806对重度血脂异常患者的血浆TG水平有影响。
