Department of Cardiovascular Medicine, The First Affiliated Hospital of Nanjing Medical University, Guangzhou Road 300, Nanjing, Jiangsu Province, 210029, China.
Department of Cardiovascular Medicine, The Friendship Hospital of Ili Kazakh Autonomous Prefecture, Yining, China.
BMC Med Genet. 2020 Feb 17;21(1):36. doi: 10.1186/s12881-020-0965-x.
Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between rs4977574 and rs1333045 polymorphism genotypes and coronary heart disease (CHD) in a Chinese population.
Blood samples were collected from 855 subjects. A case-control study was used in this experiment, and 598 cases in the CHD group and 257 subjects in the control group were enrolled. Genotyping was identified by the Agena MassARRAY system. Statistical analysis was conducted by SPSS (Ver 16.0) and plink (Ver. 1.07, Shaun Purcell). Haplotype analysis was performed using Haploview software.
Association analysis by plink indicated a significant difference in the allele distribution for single nucleotide polymorphisms between cases and controls (rs4977574 P = 0.003, rs1333045 P = 0.035). Fisher's exact test by plink proved that allele G may be associated with a higher risk of CHD (P = 0.003, odds ratio (OR) = 1.371) and the T allele was likely to reduce the risk of coronary events (P = 0.035, OR = 0.798). The serum levels of apolipoprotein A (ApoA) were higher in subjects with the AG + AA genotype of rs4977574 compared to those with the GG genotype (P = 0.028). In the dominant model of rs1333045, the levels of ApoA were higher and LDL levels were lower in the TC + TT genotype than in the CC genotype.
The present study examined the association between the 9p21 chromosome rs4977574 and rs1333045 polymorphism genotypes and CHD in a population of Chinese patients. The G allele of rs4977574 and the C allele of rs1333045 are the susceptibility sites of CHD.
Rs4977574(A>G)和 Rs1333045(C>T)均为与冠状动脉疾病相关的单核苷酸多态性(SNP),位于 9p21.3 染色体上。本研究旨在确定中国人群中 rs4977574 和 rs1333045 多态性基因型与冠心病(CHD)之间的相关性。
采集 855 例受试者的血样。本实验采用病例对照研究,CHD 组 598 例,对照组 257 例。采用 Agena MassARRAY 系统进行基因分型。采用 SPSS(Ver16.0)和 plink(Ver.1.07,Shaun Purcell)进行统计分析。采用 Haploview 软件进行单体型分析。
plink 关联分析显示,病例组和对照组之间单核苷酸多态性的等位基因分布存在显著差异(rs4977574 P=0.003,rs1333045 P=0.035)。plink 的 Fisher 精确检验证实,等位基因 G 可能与 CHD 的较高风险相关(P=0.003,比值比(OR)=1.371),T 等位基因可能降低冠状动脉事件的风险(P=0.035,OR=0.798)。与 rs4977574 的 GG 基因型相比,AG+AA 基因型的个体血清载脂蛋白 A(ApoA)水平更高(P=0.028)。rs1333045 的显性模型中,TC+TT 基因型的 ApoA 水平较高,LDL 水平较低,CC 基因型则相反。
本研究在中国患者人群中检验了 9p21 染色体 rs4977574 和 rs1333045 多态性基因型与 CHD 之间的关系。rs4977574 的 G 等位基因和 rs1333045 的 C 等位基因是 CHD 的易感位点。