中国维吾尔族和汉族人群 Egr3 基因多态性与冠心病的相关性研究。
Association of Egr3 genetic polymorphisms and coronary artery disease in the Uygur and Han of China.
机构信息
Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China.
出版信息
Lipids Health Dis. 2014 May 21;13:84. doi: 10.1186/1476-511X-13-84.
BACKGROUND
Endothelial cell activation and dysfunction are the foundation of atherosclerosis, including coronary artery disease (CAD). Endothelial cell activation is mediated by the level of gene transcription. Early growth response 3 (Egr3) is a critical determinant of vascular endothelial growth factor (VEGF) signalling in activated endothelial cells. If endothelial cells are excessively activated, it may lead to vasculopathic diseases, such as pathologic angiogenesis, inflammation, and atherosclerosis. The aim of the present study was to assess the association between the Egr3 gene polymorphisms and CAD.
METHODS
Two independent case-control studies that involved the Han group (409 CAD patients and 351 control subjects) and the Uygur group (299 CAD patients and 303 control subjects) analysed the relationship between Egr3 SNPs (rs1996147 and rs1008949) and CAD. Genotyping was undertaken using the TaqMan SNP genotyping assay.
RESULTS
The entire Uygur group and the males in the Uygur group showed a higher frequency of the A allele (rs1996147) in CAD patients than in the control subjects (P = 0.003 and P = 0.005, respectively). Additionally, the distribution of the recessive model of rs1996147 (AA vs GG + AG) for the total sample and the males was significantly different between CAD patients and control participants (P = 0.002 and P = 0.003, respectively), and the difference remained statistically significant following multivariate adjustment (Total: OR = 1.705; 95% CI: 1.166-2.494, P = 0.006; males: OR = 1.908, 95% CI: 1.189-3.062, P = 0.007). However, for Uygur females, we did not observe a difference in the allele frequency or genotypic distribution of rs1996147 between CAD patients and control participants. Similarly, the distribution of the rs1996147 allele frequency or genotypes showed no significant difference between patients with CAD and control participants in the Han group. The distribution of rs1008949 genotypes, dominant model, recessive model, and allele frequency did not show a significant difference between patients with CAD and the control subjects in the Han and Uygur groups.
CONCLUSION
rs1996147 may be a novel polymorphism of the Egr3 gene associated with CAD in males of the Chinese Uygur population.
背景
内皮细胞的激活和功能障碍是动脉粥样硬化的基础，包括冠心病（CAD）。内皮细胞的激活是由基因转录水平介导的。早期生长反应因子 3（Egr3）是激活的内皮细胞中血管内皮生长因子（VEGF）信号的关键决定因素。如果内皮细胞过度激活，可能导致血管病变疾病，如病理性血管生成、炎症和动脉粥样硬化。本研究旨在评估 Egr3 基因多态性与 CAD 的相关性。
方法
两个独立的病例对照研究，涉及汉族人群（409 例 CAD 患者和 351 例对照者）和维吾尔族人群（299 例 CAD 患者和 303 例对照者），分析了 Egr3 SNP（rs1996147 和 rs1008949）与 CAD 之间的关系。采用 TaqMan SNP 基因分型检测方法进行基因分型。
结果
整个维吾尔族群体和维吾尔族男性群体中 CAD 患者 rs1996147 等位基因（A）的频率高于对照组（P=0.003 和 P=0.005）。此外，rs1996147 的隐性模型（AA 与 GG+AG）在总样本和男性中的分布在 CAD 患者和对照组之间存在显著差异（P=0.002 和 P=0.003），且经多变量调整后差异仍有统计学意义（总样本：OR=1.705；95%CI：1.166-2.494，P=0.006；男性：OR=1.908，95%CI：1.189-3.062，P=0.007）。然而，对于维吾尔族女性，我们未观察到 CAD 患者与对照组之间 rs1996147 等位基因频率或基因型分布存在差异。同样，汉族人群中 CAD 患者与对照组之间 rs1996147 等位基因频率或基因型分布也无显著差异。汉族和维吾尔族人群中，rs1008949 基因型、显性模型、隐性模型和等位基因频率在 CAD 患者与对照组之间也无显著差异。
结论
rs1996147 可能是中国维吾尔族男性 CAD 的 Egr3 基因的一个新的多态性位点。
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