Cao Xiao-Li, Yin Rui-Xing, Huang Feng, Wu Jin-Zhen, Chen Wu-Xian
Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University, 22 Shuangyong Road, Nanning 530021, Guangxi, China.
Department of Neurology, the First Affiliated Hospital, Guangxi Medical University, 22 Shuangyong Road, Nanning 530021, Guangxi, China.
Int J Mol Sci. 2016 Apr 18;17(4):586. doi: 10.3390/ijms17040586.
The single nucleotide polymorphisms (SNPs) related to both coronary heart disease (CHD) and ischemic stroke (IS) in Chinese individuals have not been identified definitely. This study was developed to evaluate the genetic susceptibility to CHD and IS on the chromosome 9p21 and the adenosine triphosphate (ATP)-binding cassette transporter A1 genes (ABCA1) in a Chinese Han population. Genotypes of the rs1333040, rs1333042, rs4977574, rs2066715 and rs2740483 SNPs were determined in 1134 unrelated patients (CHD, 565 and IS, 569) and 541 controls. The frequencies of the rs4977574 genotypes and alleles between CHD and control groups, and the rs2740483 genotypes and alleles between IS and control groups were different (p = 0.006-0.001). The subjects with rs1333042GG genotype and the carriers of the rs4977574G allele were associated with increased risk of CHD. The carriers of the rs4977574G allele were associated with increased risk of IS. However, the carriers of the rs2740483C allele had lower risk of IS than the non-carriers of the rs2740483C allele after controlling for potential confounders. The rs4977574GG-age (>60 year) interaction increased the risk of CHD (p = 0.022), whereas the rs2740483CG/CC-body mass index (>24 kg/m²) interaction decreased the risk of IS (p = 0.035). The interactions of rs1333040-rs1333042 on the risk of CHD and IS were relatively strong, whereas the interactions of rs1333040-rs1333042-rs2066715 and rs1333040-rs1333042-rs2066715-rs2740483 on the risk of CHD, and rs1333040-rs1333042-rs4977574 and rs1333040-rs1333042-rs4977574-rs2740483 on the risk of IS were relatively weak. These findings suggest that some common variants on the chromosome 9p21 and ABCA1 and their interactions may significantly modify the risk of CHD and IS independent of effects on serum lipid levels.
中国人群中与冠心病（CHD）和缺血性中风（IS）相关的单核苷酸多态性（SNP）尚未明确鉴定。本研究旨在评估中国汉族人群中9号染色体p21区域和三磷酸腺苷（ATP）结合盒转运蛋白A1基因（ABCA1）对冠心病和缺血性中风的遗传易感性。在1134名无亲缘关系的患者（冠心病患者565例，缺血性中风患者569例）和541名对照中测定了rs1333040、rs1333042、rs4977574、rs2066715和rs2740483这几个SNP的基因型。冠心病组与对照组之间rs4977574的基因型和等位基因频率，以及缺血性中风组与对照组之间rs2740483的基因型和等位基因频率存在差异（p = 0.006 - 0.001）。rs1333042GG基因型的受试者和rs4977574G等位基因的携带者患冠心病的风险增加。rs4977574G等位基因的携带者患缺血性中风的风险增加。然而，在控制潜在混杂因素后，rs2740483C等位基因的携带者患缺血性中风的风险低于rs2740483C等位基因的非携带者。rs4977574GG - 年龄（>60岁）的相互作用增加了患冠心病的风险（p = 0.022），而rs2740483CG/CC - 体重指数（>24 kg/m²）的相互作用降低了患缺血性中风的风险（p = 0.035）。rs1333040 - rs1333042对冠心病和缺血性中风风险的相互作用相对较强，而rs1333040 - rs1333042 - rs2066715和rs1333040 - rs1333042 - rs2066715 - rs2740483对冠心病风险的相互作用，以及rs1333040 - rs1333042 - rs4977574和rs1333040 - rs1333042 - rs4977574 - rs2740483对缺血性中风风险的相互作用相对较弱。这些发现表明，9号染色体p21区域和ABCA1上的一些常见变异及其相互作用可能会显著改变冠心病和缺血性中风的风险，而与对血脂水平的影响无关。
Zotero 插件
