A common polymorphism of the human cardiac sodium channel alpha subunit (SCN5A) gene is associated with sudden cardiac death in chronic ischemic heart disease

Cardiac death remains one of the leading causes of mortality worldwide. Recent research has shed light on pathophysiological mechanisms underlying cardiac death, and several genetic variants in novel candidate genes have been identified as risk factors. However, the vast majority of studies performed so far investigated genetic associations with specific forms of cardiac death only (sudden, arrhythmogenic, ischemic etc.). The aim of the present investigation was to find a genetic marker that can be used as a general, powerful predictor of cardiac death risk. To this end, a case-control association study was performed on a heterogeneous cohort of cardiac death victims (n=360) and age-matched controls (n=300). Five single nucleotide polymorphisms (SNPs) from five candidate genes (beta2 adrenergic receptor, nitric oxide synthase 1 adaptor protein, ryanodine receptor 2, sodium channel type V alpha subunit and transforming growth factor-beta receptor 2) that had previously been shown to associate with certain forms of cardiac death were genotyped using sequence-specific real-time PCR probes. Logistic regression analysis revealed that the CC genotype of the rs11720524 polymorphism in the SCN5A gene encoding a subunit of the cardiac voltage-gated sodium channel occurred more frequently in the highly heterogeneous cardiac death cohort compared to the control population (p=0.019, odds ratio: 1.351). A detailed subgroup analysis uncovered that this effect was due to an association of this variant with cardiac death in chronic ischemic heart disease (p=0.012, odds ratio =1.455). None of the other investigated polymorphisms showed association with cardiac death in this context. In conclusion, our results shed light on the role of this non-coding polymorphism in cardiac death in ischemic cardiomyopathy. Functional studies are needed to explore the pathophysiological background of this association. © 2015 Marcsa et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Examination of the Suicide Characteristics Based on the Scene Investigation in Capital Budapest (2009-2011)

Medicolegal evaluation of postmortem findings at the death scene represents an important part of forensic medicine. The aim of this study was to investigate the occurrence and characteristics of suicide events. Data collection was performed from the police scene investigation reports in capital Budapest between 2009 and 2011. In this study, epidemiological parameters such as age, gender, time and place of death, postmortem changes, suicidal method, seasonal and daily distribution, natural diseases, earlier psychiatric treatment, socioeconomic risks, supposed cause of death, final notes, earlier suicide attempts, and suicide ideations were analyzed. There were 892 suicide cases (619 males, 273 females) detected in the investigated period. Hanging, overdose of prescription medications, jumping, use of firearms, drowning, and electrotrauma showed statistical differences among genders (p<0.05). The most common methods of suicide among men and women were hanging (57.4%) and overdose of prescription medications (33%), respectively. Death scene characteristics represent the important factors for forensic medicine. © 2015 American Academy of Forensic Sciences

Results from individual studies used for SNP selection in the present study.

<p>HR = hazard ratio; OR = odds ratio.</p><p>Results from individual studies used for SNP selection in the present study.</p

Characterization of the case population according to ICD (International Classification of Diseases) diagnoses and gender distribution.

<p>Characterization of the case population according to ICD (International Classification of Diseases) diagnoses and gender distribution.</p