Autopsy and postmortem examination case study on genetic risk factors for cardiac death: Polymorphisms of endothelial nitric oxide synthase gene Glu298asp variant and T-786c mutation, human paraoxonas

摘要

Background/Aim. The Glu298Asp variant in exon 7 and T-786C mutation in the 5'-flanking region of the endothelial nitric oxide synthase (eNOS) gene, paraoxonase I gene (PON1), and α2β- adrenergic receptor gene (α2β-AR) have been reported to be genetic risk factors for coronary heart disease (CHD). The aim of this study was to investigate the effects of these four genetic polymorphisms on the probability of death due to CHD, using data obtained from medico-legal autopsies. Methods. Blood samples from three groups: healthy controls, dead cases with CHD and without CHD (the latter as a control for dead cases) were used. After DNA extraction, genotyping was performed by polymerase chain reaction ? restriction fragment length polymorphism (PCR-RFLP) test. Results. The frequency of the T allele in Glu298Asp variant in the dead cases with CHD was significantly higher than that in the healthy control (p