Polymorphisms of rs2483205 and rs562556 in Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gene are Associated With Coronary Artery Disease

Abstract

PCSK9 plays a pivotal role in lipid metabolism. The present study is to explore the potential novel single nucleotide polymorphisms (SNPs) of the PCSK9 gene which is associated with coronary artery disease (CAD) in the Han population who lived in Xinjiang, China. We conducted a case-control study and genotyped four tag SNPs of the PCSK9 gene in 950 CAD and 1082 health subjects in the Han population. This study showed that for rs2483205, the distributions in genotypes had significant differences between the CAD and control groups (p = 0.025), and the subjects with TT genotype had lower total cholesterol (TC) level than CT genotype (p = 0.025). For rs562556, there were significant differences between the CAD and control groups for distributions of genotypes (p = 0.020), and the individuals with a G allele had a lower low-density lipoprotein cholesterol (LDL-C) level than an A allele (p = 0.048). Furthermore, the TT genotype of rs2483205 and GG genotype of rs562556 were independently associated with CAD (odds ratio [OR] = 0.53, 95% confidence interval [CI] = 0.29-0.95, p = 0.032 and OR = 0.57, 95%CI = 0.34-0.95, p = 0.032, respectively). In conclusion, the rs2483205 and rs562556 were significantly associated with CAD.