Association analysis of polymorphisms in EGFR, HER2, ESR1 and THRA genes with coronary artery diseases

Abstract 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.