Özet:
Cardiovascular disease (CVD), which is a complex multifactorial disease with many environmental and genetic factors, is the leading cause of death worldwide. Extensive research is ongoing for the identification of the genetic risk factors with association studies between patients and controls. As a result, several polymorphisms in several genes were identified as risk factors for CVD, but the results are mostly not reproducible within different study groups. In the framework of this thesis, selected polymorphisms in angiotensin 1 receptor (AT1R), angiotensin converting enzyme (ACE), angiotensinogen (AGT), bradykinin B2 receptor (BKB2), endothelial nitric oxide synthase (eNOS) and G-protein beta-3 subunit (GNB3) genes were investigated to study the significance of the polymorphisms between myocardial infarction (MI) patients and healthy controls. Moreover, the LightCycler system was optimized for genotyping of the ACE and eNOS genes and the genotyping results wer compared with the conventional PCR and restriction enzyme (RE) analysis. Screening of 84 premature MI patients and 60 age-matched healthy controls with RE analysis, DNA sequencing and LightCycler did not demonstrate any significant association between the studied polymorphims in the six genes mentioned above and premature MI. However, this is the first study of its kind in Turkey, and we hope that it paves the way for more extensive studies with larger patient cohorts and healthy controls to unravel the complex interaction between genes and myocardial infarction.
