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巴西无症状人群中ABCG1基因多态性rs1893590与高密度脂蛋白(HDL)之间的关联。

Association between ABCG1 polymorphism rs1893590 and high-density lipoprotein (HDL) in an asymptomatic Brazilian population.

作者信息

Zago V H S, Scherrer D Z, Parra E S, Panzoldo N B, Alexandre F, Nakandakare E R, Quintão E C R, de Faria E C

机构信息

Lipid Laboratory and Center for Medicine and Experimental Surgery, Department of Clinical Pathology, Faculty of Medical Sciences, University of Campinas, Rua Tessália Vieira de Camargo, 126, PO Box 6111, Campinas, SP, 13084-971, Brazil.

出版信息

Mol Biol Rep. 2015 Mar;42(3):745-54. doi: 10.1007/s11033-014-3823-0. Epub 2014 Nov 15.

Abstract

ATP binding cassette transporter G1 (ABCG1) promotes lipidation of nascent high-density lipoprotein (HDL) particles, acting as an intracellular transporter. SNP rs1893590 (c.-204A > C) of ABCG1 gene has been previously studied and reported as functional over plasma HDL-C and lipoprotein lipase activity. This study aimed to investigate the relationships of SNP rs1893590 with plasma lipids and lipoproteins in a large Brazilian population. Were selected 654 asymptomatic and normolipidemic volunteers from both genders. Clinical and anthropometrical data were taken and blood samples were drawn after 12 h fasting. Plasma lipids and lipoproteins, as well as HDL particle size and volume were determined. Genomic DNA was isolated for SNP rs1893590 detection by TaqMan(®) OpenArray(®) Real-Time PCR Plataform (Applied Biosystems). Mann-Whitney U, Chi square and two-way ANOVA were the used statistical tests. No significant differences were found in the comparison analyses between the allele groups for all studied parameters. Conversely, significant interactions were observed between SNP and age over plasma HDL-C, were volunteers under 60 years with AA genotype had increased HDL-C (p = 0.048). Similar results were observed in the group with body mass index (BMI) < 25 kg/m(2), where volunteers with AA genotype had higher HDL-C levels (p = 0.0034), plus an increased HDL particle size (p = 0.01). These findings indicate that SNP rs1893590 of ABCG1 has a significant impact over HDL-C under asymptomatic clinical conditions in an age and BMI dependent way.

摘要

ATP结合盒转运蛋白G1(ABCG1)作为一种细胞内转运蛋白,可促进新生高密度脂蛋白(HDL)颗粒的脂化。ABCG1基因的单核苷酸多态性rs1893590(c.-204A>C)此前已有研究报道,其对血浆高密度脂蛋白胆固醇(HDL-C)和脂蛋白脂肪酶活性具有功能性影响。本研究旨在调查rs1893590单核苷酸多态性与巴西一大群人的血浆脂质和脂蛋白之间的关系。我们从654名无症状且血脂正常的志愿者中选取了男女各半的样本。记录了临床和人体测量数据,并在禁食12小时后采集血样。测定了血浆脂质和脂蛋白,以及HDL颗粒大小和体积。通过TaqMan® OpenArray®实时PCR平台(应用生物系统公司)分离基因组DNA以检测rs1893590单核苷酸多态性。使用了曼-惠特尼U检验、卡方检验和双向方差分析等统计测试。在所有研究参数的等位基因组比较分析中未发现显著差异。相反,在血浆HDL-C方面,观察到单核苷酸多态性与年龄之间存在显著相互作用,60岁以下AA基因型的志愿者HDL-C升高(p = 0.048)。在体重指数(BMI)<25 kg/m²的组中也观察到了类似结果,其中AA基因型的志愿者HDL-C水平较高(p = 0.0034),且HDL颗粒大小增加(p = 0.01)。这些发现表明,在无症状临床条件下,ABCG1的rs1893590单核苷酸多态性以年龄和BMI依赖的方式对HDL-C有显著影响。

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