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    GWAS analysis of sudden cardiac death cases in a Turkish population
    (İstanbul University Press, 2025) Özel Cavlak, Gülay; Cavlak, Mehmet; Kınoğlu, Kubilay; Ceviz, Ayşe Begüm; Eronat, Allison Pınar; Kobak, Işıl; Şam, Bülent; Yıldız, Mustafa; Bayraktar, Bülent; Yılmaz Aydoğan, Hülya; Öztürk, Oğuz
    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 cardiomy6 opathy. 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 genome6wide 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 poly6 morphisms, rs2971851 and rs9609516, emerged as prominent variants when compared to healthy athletes.