GWAS analysis of sudden cardiac death cases in a Turkish population

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Küçük Resim

Tarih

2025

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

İstanbul University Press

Erişim Hakkı

info:eu-repo/semantics/openAccess

Araştırma projeleri

Organizasyon Birimleri

Dergi sayısı

Özet

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.

Açıklama

Anahtar Kelimeler

Sudden Cardiac Death, Microarray Analysis, GWAS, Genetics, Forensic Medicine

Kaynak

Experimed

WoS Q Değeri

Scopus Q Değeri

Q4

Cilt

15

Sayı

1

Künye

Özel Cavlak, G., Cavlak, M., Kınoğlu, K., Ceviz, A. B., Eronat, A. P., Kobak, I., Şam, B., Yıldız, M., Bayraktar, B., Yılmaz Aydoğan, H., & Öztürk, O. (2025). GWAS analysis of sudden cardiac death cases in a Turkish population. Experimed, 15(1), pp. 15-22. https://doi.org/10.26650/experimed.1529331