目标:冠心病最严重的冠状动脉疾病(CAD),是一种复杂的疾病,涉及多种遗传和环境因素。最近,通过全基因组关联(GWA)研究,多个单核苷酸多态性(SNPs)与高加索人的CAD相关.然而,在亚洲人群中,这些SNP与CHD的相关性尚未确定.这里,我们旨在通过对GWAS或候选基因研究中先前与其他伦理来源的CHD相关的SNP进行基因分型,研究中国人群CHD的遗传病因.
方法:五个SNP,来自5个不同基因座的rs17114036,rs9369640,rs515135,rs579459和rs8055236使用测序质谱系统在545CHD患者和1008个中国人群的无关对照中进行了基因分型。
结果:我们的研究表明,在中国汉族人群中,SNPrs515135与冠心病密切相关(P值=0.00333,OR=1.48)。我们还检测到重度CAD患者与轻度CAD患者相比APOB基因中SNPrs579459的显着差异。
结论:SNPrs515135与中国汉族人群冠心病易感性相关。rs515135在APOB基因中的位置支持其可能参与CAD的发病机理。我们的研究数据也支持SNPrs579459可能与冠心病的严重程度有关。
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.
CONCLUSIONS: 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.