GWAS Analysis of Sudden Cardiac Death Cases in a Turkish Population

Year 2025, Volume: 15 Issue: 1, 15 - 22, 16.04.2025

Gulay Ozel Cavlak , Mehmet Cavlak , Kubilay Kınoglu , Ayse Begüm Ceviz , Allison Pınar Eronat , Isil Kobak , Bülent Şam , Mustafa Yıldız , Bülent Bayraktar , Hülya Yılmaz Aydoğan , Oğuz Öztürk

https://doi.org/10.26650/experimed.1529331

Abstract

Objective: Sudden death is defined as death occurring within one hour of the onset of symptoms, with cardiovascular diseases being one of the leading causes. The most common genetic factors leading to sudden cardiac death are hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. In some cases, autopsies may reveal no evidence of long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, or Brugada Syndrome.

Materials and Methods: We collected samples from sudden cardiac death cases aged 5–40 years (arrhythmia as Group 1, hypertrophy as Group 2, and ischemic heart disease as Group 3) , as well as from healthy athletes (control group as Group 4), and analyzed them using genomewide association study (GWAS) with a DNA microchip containing 196,725 single nucleotide polymorphism (SNP) markers thought to be associated with sudden cardiac death or other cardiovascular diseases.

Results: We detected any possible genetic variations or patterns that could elucidate the mechanisms underlying sudden cardiac death in a Turkish population. In our study group, two polymorphisms; rs2971851 and rs9609516, stood out as prominent variants compared with healthy elite athletes.

Conclusion: We aimed to identify potential genetic variations or patterns that could shed light on the mechanisms underlying sudden cardiac death in the Turkish population. In our study group, two polymorphisms, rs2971851 and rs9609516, emerged as prominent variants when compared to healthy athletes.

Keywords

Sudden cardiac death, Microarray analysis, GWAS, Genetics, Forensic medicine

Ethical Statement

Our study is in accordance with the Declaration of Helsinki and approved by the Ethics Committee of Istanbul Medical Faculty, Istanbul University

Supporting Institution

The present study was supported by the intramural research fund of the Istanbul University (Project No. 20852).

Project Number

20852

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