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Association analysis of GWAS and candidate gene loci in a Chinese population with coronary heart disease

机译:中国人群冠心病人群GWAS与候选基因位点的关联分析

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摘要

Objective: Coronary heart disease (CHD), the most severe form of coronary artery disease (CAD), is a complex disease that involves a variety of genetic and environmental factors. Recently, multiple single nucleotide polymorphisms (SNPs) have been associated with CAD in Caucasians by genome-wide association (GWA) studies.However, the association of these SNPs with CHD in Asian populations has not yet been established. Here, we aim to investigate the genetic etiology of CHD in a Chinese population by genotyping SNPs previously been associated with CHD in other ethic origin in GWAS or candidate gene studies. Methods: Five SNPs, rs17114036, rs9369640, rs515135, rs579459 and rs8055236, from 5 different loci were genotyped using a sequenom Mass array system in 545CHD patients and 1008 unrelated controls from a Chinese population. Results: Our study showed that SNP rs515135 is strongly associated with CHD in a Chinese Han population (P-value=0.00333, OR=1.48). We also detected significant difference of SNP rs579459 in APOB gene in patients withsevere CAD compared to patients with mild CAD. Conclusion: SNP rs515135 is associated with the susceptibility of CHD in Chinese Han population. The location of rs515135 in the APOB gene supports its potential involvement in the pathogenesis of CAD. Our study data also support that SNP rs579459 may be associated with the severity of CHD.
机译:目的:冠心病(CHD)是冠状动脉疾病(CAD)的最严重形式,是一种涉及多种遗传和环境因素的复杂疾病。最近,通过全基因组关联(GWA)研究,高加索人的CAD有多个单核苷酸多态性(SNPs),但尚未确定亚洲人群中这些SNP与CHD的关联。在这里,我们的目的是通过对先前在GWAS或其他候选基因研究中与其他伦理起源的冠心病相关的SNP进行基因分型,以研究中国人群冠心病的遗传病因。方法:采用序列测序质量阵列系统,在545CHD患者和1008名来自中国人群的非相关对照中,对来自5个不同基因座的5个SNP,分别为rs17114036,rs9369640,rs515135,rs579459和rs8055236进行基因分型。结果:我们的研究表明,在中国汉族人群中,SNP rs515135与冠心病密切相关(P值= 0.00333,OR = 1.48)。与重度CAD患者相比,重度CAD患者APOB基因中SNP rs579459的显着差异。结论:SNP rs515135与中国汉族人群冠心病易感性有关。 rs515135在APOB基因中的位置支持其潜在参与CAD的发病机理。我们的研究数据还支持SNP rs579459可能与冠心病的严重程度有关。

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