Several proteins are involved in cholesterol homeostasis, as scavenger receptor class B type I and ATP-binding cassette (ABC) transporters including ABCA1, ABCG1, ABCG5, and ABCG8. This study aimed to determine the effects of single nucleotide variants (SNVs) rs2275543 (ABCA1), rs1893590 (ABCG1), rs6720173 (ABCG5), rs6544718 (ABCG8), and rs5888 (SCARB1) on plasma lipids, lipoproteins, and adiposity markers in an asymptomatic population and its sex-specific effects. Volunteers (n = 590) were selected and plasma lipids, lipoproteins, and adiposity markers (waist-to-hip and waist-to-height ratios, lipid accumulation product and body adiposity index) were measured. Genomic DNA was isolated from peripheral blood cells according to the method adapted from Gross-Bellard. SNVs were detected in the TaqMan® OpenArray® Real-Time polymerase chain reaction platform and data analyses were performed using the TaqMan® Genotyper Software. The rs2275543*C point to an increase of high-density lipoprotein size in females while in males very-low-density lipoprotein, cholesterol, and triglycerides were statistically lower (P value < 0.05). The rs1893590*C was statistically associated with lower apolipoprotein A-I levels and higher activities of paraoxonase-1 and cholesteryl ester transfer protein (P value < 0.05). The rs6720173 was statistically associated with an increase in cholesterol and low-density lipoprotein cholesterol in males; moreover, rs6544718*T reduced adiposity markers in females (P value < 0.05). Regarding the rs5888, a decreased adiposity marker in the total population and in females occurred (P value < 0.05). Multivariate analysis of variance showed that SNVs could influence components of high-density lipoprotein metabolism, mainly through ABCG1 (P value < 0.05). The ABCA1 and ABCG5 variants showed sex-specific effects on lipids and lipoproteins, while SCARB1 and ABCG8 variants might influence adiposity markers in females. Our data indicate a possible role of ABCG1 on HDL metabolism.

几种蛋白质参与胆固醇稳态，如清道夫受体 B 类 I 型和 ATP 结合盒 (ABC) 转运蛋白，包括 ABCA1、ABCG1、ABCG5 和 ABCG8。本研究旨在确定单核苷酸变异体 (SNV) rs2275543 ( ABCA1 )、rs1893590 ( ABCG1 )、rs6720173 ( ABCG5 )、rs6544718 ( ABCG8 ) 和 rs5888 ( SCARB1 ) 对血浆脂质、脂蛋白和肥胖标志物的影响。无症状人群及其性别特异性影响。志愿者 ( n = 590）被选择并测量血浆脂质、脂蛋白和肥胖标志物（腰臀比和腰高比、脂质积累产物和身体肥胖指数）。根据改编自 Gross-Bellard 的方法从外周血细胞中分离基因组 DNA。在 TaqMan® OpenArray® 实时聚合酶链式反应平台中检测到 SNV，并使用 TaqMan® Genotyper 软件进行数据分析。rs2275543*C 表明女性高密度脂蛋白大小增加，而男性极低密度脂蛋白、胆固醇和甘油三酯在统计学上较低（P值 < 0.05）。rs1893590*C 与较低的载脂蛋白 AI 水平和较高的对氧磷酶 1 和胆固醇酯转移蛋白活性有统计学相关性（P值 < 0.05)。rs6720173 与男性胆固醇和低密度脂蛋白胆固醇的增加在统计学上相关；此外，rs6544718*T 降低了女性的肥胖标志物（P值 < 0.05）。关于rs5888，总人口和女性的肥胖标志物出现下降（P值<0.05）。多因素方差分析显示，SNVs对高密度脂蛋白代谢成分的影响主要通过ABCG1（P值<0.05）。ABCA1和ABCG5变体对脂质和脂蛋白表现出性别特异性影响，而SCARB1和ABCG8变异可能会影响女性的肥胖标记。我们的数据表明ABCG1对 HDL 代谢的可能作用。