Bhanushali Aparna A, Das B R
Research and Development, Super Religare Laboratories Ltd., Goregaon West, Mumbai, Maharashtra, India.
Indian J Hum Genet. 2013 Oct;19(4):430-6. doi: 10.4103/0971-6866.124371.
A central component of the atherosclerotic process is inflammation. Single nucleotide polymorphisms (SNPs) present in the promoter region of various cytokines can lead to altered levels of the transcript and a state of low-grade inflammation exacerbating the risk of coronary artery disease (CAD). The present work tries to understand the role of permissive promoter variants in the interleukin-6 gene (IL-6-174G/C) and the tumor necrosis factor alpha (TNFα-308G/A) in the causation of CAD and also dyslipidemia.
Genotyping was conducted on 100 cases of CAD and 150 controls by the allele termination assay SNaPshot. Biochemical parameters were determined by routine enzymatic endpoint methods. The results were analyzed by appropriate statistical methods.
No differences in the minor allele frequency IL-6-174G/C SNP were seen between cases and controls (0.13 vs. 0.12). The differences in the allele frequency of TNFα-308A between cases (6%) and controls (2%) have led to an odds ratio, 3.370; 95% confidence interval, 1.039-11.543; P=0.033 in the univariate analysis. In the final logistic regression analysis, however none of the variants were associated with an increased risk of CAD.
In summary, no association of the permissive promoter variants in the IL-6 gene and the TNFα gene were seen with an increased CAD risk. These and other studies highlight the importance of doing population specific studies.
动脉粥样硬化过程的一个核心组成部分是炎症。各种细胞因子启动子区域存在的单核苷酸多态性（SNP）可导致转录水平改变以及低度炎症状态，从而加剧冠状动脉疾病（CAD）的风险。本研究试图了解白细胞介素-6基因（IL-6 -174G/C）和肿瘤坏死因子α（TNFα -308G/A）的许可性启动子变体在CAD及血脂异常病因中的作用。
采用等位基因终止分析SNaPshot对100例CAD患者和150例对照进行基因分型。通过常规酶促终点法测定生化参数。采用适当的统计方法分析结果。
病例组和对照组之间白细胞介素-6 -174G/C SNP的次要等位基因频率无差异（0.13对0.12）。病例组（6%）和对照组（2%）之间TNFα -308A等位基因频率的差异导致单因素分析中的比值比为3.370；95%置信区间为1.039 - 11.543；P = 0.033。然而，在最终的逻辑回归分析中，没有一个变体与CAD风险增加相关。
总之，未发现白细胞介素-6基因和肿瘤坏死因子α基因的许可性启动子变体与CAD风险增加有关。这些研究以及其他研究凸显了开展特定人群研究的重要性。
