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ATP结合盒转运体A1基因多态性与血浆脂质变异性及冠心病风险的关联。

Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.

作者信息

Lu Yuping, Liu Yawen, Li Yong, Zhang Huiping, Yu Mingxi, Kanu Joseph Sam, Qiao Yichun, Tang Yuan, Zhen Qing, Cheng Yi

机构信息

Department of Epidemiology and Biostatistics, School of Public Health, Jilin University Changchun 130021, China.

Department of Psychiatry, Yale University School of Medicine, VA Medical Center/116A2 950 Campbell Avenue, West Haven, CT 06516, USA.

出版信息

Int J Clin Exp Pathol. 2015 Oct 1;8(10):13441-9. eCollection 2015.

Abstract

OBJECTIVE

Our study aimed to investigate the association of ABCA1 polymorphisms with plasma lipid variability and CHD risk in the Chinese Han population.

METHODS

754 CHD patients and 760 controls were included in this case-control study. Three SNPs (rs363717, rs4149339, and rs4149338) in ABCA1 3'UTR and one nonsynonymous SNP (rs2230808) in ABCA1 exon 35 were selected and genotyped. The analysis of genetic data was performed using the SNPstats program and the SPSS17.0 software.

RESULTS

Significant associations were observed between SNP rs363717 and CHD risk under different genetic models before or after Bonferroni corrections (codominant model: OR = 0.70, P = 0.003 for AG vs. AA; dominant model: OR = 0.71, P = 0.003 for GG + AG vs. AA). The nonsynonymous SNP rs2230808 was associated with higher total cholesterol levels (P = 0.047). The GCC haplotype (consisting of alleles of SNPs rs363717, rs4149339, and rs4149338) was associated with a decreased risk of CHD (OR = 0.8, P = 0.027). Three ABCA1 SNPs interacted with high triglyceride levels to increase CHD risk (P values of interactions were 0.010 for rs363717, 0.010 for rs4149339, and 0.020 for rs4149338, respectively).

CONCLUSIONS

Our results suggest that ABCA1 polymorphisms influence plasma lipid variability and CHD risk. ABCA1 polymorphisms could also modify the effects of plasma lipids on CHD risk.

摘要

目的

本研究旨在探讨中国汉族人群中ABCA1基因多态性与血浆脂质变异性及冠心病风险之间的关联。

方法

本病例对照研究纳入了754例冠心病患者和760例对照。选择ABCA1基因3'UTR中的3个单核苷酸多态性(SNP,rs363717、rs4149339和rs4149338)以及ABCA1基因第35外显子中的1个非同义SNP(rs2230808)进行基因分型。使用SNPstats程序和SPSS17.0软件对遗传数据进行分析。

结果

在Bonferroni校正前后的不同遗传模型下,均观察到SNP rs363717与冠心病风险之间存在显著关联(共显性模型:AG与AA相比,OR = 0.70,P = 0.003;显性模型:GG + AG与AA相比,OR = 0.71,P = 0.003)。非同义SNP rs2230808与较高的总胆固醇水平相关(P = 0.047)。GCC单倍型(由SNP rs363717、rs4149339和rs4149338的等位基因组成)与冠心病风险降低相关(OR = 0.8,P = 0.027)。3个ABCA1基因SNP与高甘油三酯水平相互作用增加冠心病风险(rs363717的相互作用P值为0.010,rs4149339为0.010,rs4149338为0.020)。

结论

我们的结果表明,ABCA1基因多态性影响血浆脂质变异性和冠心病风险。ABCA1基因多态性还可能改变血浆脂质对冠心病风险的影响。

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