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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Association analysis of polymorphisms in EGFR, HER2, ESR1 and THRA genes with coronary artery diseases
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Association analysis of polymorphisms in EGFR, HER2, ESR1 and THRA genes with coronary artery diseases

机译： EGFR ， HER2 ， ESR1 和 THRA多态性的关联分析基因与冠心病

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Background Research in the genetic basis of coronary artery diseases (CAD) has identified some genes and pathways associated with diseases that would not be considered to underlie conventional risk factors. Among these genes there are the EGFR (epidermal growth factor receptor) receptor family genes and the regulation factor genes (such as thyroid hormone receptor α (THRA) and estrogen receptor α (ESR1)). Aim In this study we investigated the relation between 4 polymorphisms within EGFR, HER2 (human epidermal growth factor receptor 2), ESR1 and THRA genes and CAD. Subjects and methods The association analysis was performed with 151 healthy individuals and 151 CAD patients documented by angiography. Results No significant difference was found in the allelic and genotypic frequency distribution of the four variants studied between the control and patient groups. We have also investigated the relationship of these polymorphic sites with clinical and biochemical parameters such as smoking habit, diabetes mellitus, hypertension, dyslipidemia, CAD severity, glucose, triglyceride, total cholesterol and urea levels. The EGFR and THRA variants were associated with glycemia and triglyceride levels, respectively. Also a significant correlation was found between the ESR1 polymorphism and the levels of urea and triglyceride. Conclusion Our results suggest the absence of any significant association between the four polymorphisms analyzed and CAD risk as well as disease severity.
机译：背景技术冠状动脉疾病（CAD）的遗传基础研究已经确定了一些与疾病相关的基因和途径，这些基因和途径不被认为是常规危险因素的基础。这些基因中有EGFR（表皮生长因子受体）受体家族基因和调节因子基因（例如甲状腺激素受体α（THRA）和雌激素受体α（ESR1））。目的在这项研究中，我们研究了EGFR，HER2（人类表皮生长因子受体2），ESR1和THRA基因与CAD中4种多态性之间的关系。受试者和方法对151名通过血管造影记录的健康个体和151名CAD患者进行了关联分析。结果在对照组和患者组之间研究的四个变体的等位基因和基因型频率分布没有发现显着差异。我们还研究了这些多态性位点与临床和生化参数（如吸烟习惯，糖尿病，高血压，血脂异常，CAD严重程度，葡萄糖，甘油三酸酯，总胆固醇和尿素水平）之间的关系。 EGFR和THRA变异分别与血糖和甘油三酸酯水平相关。在ESR1多态性与尿素和甘油三酸酯水平之间也发现了显着的相关性。结论我们的结果表明，所分析的四种多态性与CAD风险以及疾病严重程度之间没有任何显着关联。

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