GWAS analysis of sudden cardiac death cases in a Turkish population

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dc.authorid0000-0003-4301-1319
dc.authorid0000-0003-3059-3372
dc.authorid0000-0002-3972-559X
dc.authorid0000-0002-3635-8421
dc.authorid0000-0002-8095-1759
dc.authorid0000-0002-5410-6914
dc.authorid0000-0003-2650-9131
dc.authorid0000-0003-3502-4785
dc.authorid0000-0001-8102-4896
dc.authorid0000-0002-8837-6664
dc.authorid0000-0002-2439-9269
dc.contributor.authorÖzel Cavlak, Gülay
dc.contributor.authorCavlak, Mehmet
dc.contributor.authorKınoğlu, Kubilay
dc.contributor.authorCeviz, Ayşe Begüm
dc.contributor.authorEronat, Allison Pınar
dc.contributor.authorKobak, Işıl
dc.contributor.authorŞam, Bülent
dc.contributor.authorYıldız, Mustafa
dc.contributor.authorBayraktar, Bülent
dc.contributor.authorYılmaz Aydoğan, Hülya
dc.contributor.authorÖztürk, Oğuz
dc.date.accessioned2025-05-22T13:42:33Z
dc.date.available2025-05-22T13:42:33Z
dc.date.issued2025
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractObjective: 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.
dc.description.sponsorshipThis work was financially supported by the Research Fund of Istanbul University (Project No.20852). Bu çalışma, İstanbul Üniversitesi Araştırma Fonu tarafından mali olarak desteklenmiştir (Proje No. 20852).
dc.identifier.citationÖzel 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
dc.identifier.doi10.26650/experimed.1529331
dc.identifier.endpage22
dc.identifier.issn2667-5846
dc.identifier.issue1
dc.identifier.scopus2-s2.0-105003750865
dc.identifier.scopusqualityQ4
dc.identifier.startpage15
dc.identifier.urihttps://doi.org/10.26650/experimed.1529331
dc.identifier.urihttps://hdl.handle.net/20.500.13055/986
dc.identifier.volume15
dc.identifier.wosWOS:001485705700002
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynak.otherESCI - Emerging Sources Citation Index
dc.institutionauthorCeviz, Ayşe Begüm
dc.institutionauthorid0000-0002-3635-8421
dc.language.isoen
dc.publisherİstanbul University Press
dc.relation.ispartofExperimed
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectSudden Cardiac Death
dc.subjectMicroarray Analysis
dc.subjectGWAS
dc.subjectGenetics
dc.subjectForensic Medicine
dc.titleGWAS analysis of sudden cardiac death cases in a Turkish population
dc.typeArticle
dspace.entity.typePublication

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