Investigation of Prothrombin G20210A and Factor V Leiden G1691A Variants in Patients with Acute Coronary Syndrome Presenting to the Emergency Department with Chest Pain

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YÜKÇÜ F., KAYA M., Can F., YILDIRIM H.

Genes, cilt.16, sa.12, 2025 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 12
  • Basım Tarihi: 2025
  • Doi Numarası: 10.3390/genes16121490
  • Dergi Adı: Genes
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Chemical Abstracts Core, EMBASE, MEDLINE
  • Anahtar Kelimeler: acute coronary syndrome, factor V Leiden, genetic variant, logistic regression, prothrombin
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Kütahya Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Background: Acute coronary syndrome (ACS) is a major cardiovascular emergency influenced by environmental and genetic factors. Thrombophilic variants such as prothrombin G20210A (rs1799963) and factor V Leiden G1691A (rs6025) may influence thrombin generation and has been reported to show associations with coronary events. Methods: This case–control study included 100 ACS patients and 131 age and sex-matched healthy controls. Genotyping of rs1799963 and rs6025 was performed using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) analysis. Results: The GG genotype was markedly more common among ACS patients for both variants. For rs1799963, carriers of the A allele (GA + AA) were less common in ACS (2.0%) than controls (9.2%; p = 0.039), corresponding to an 8.6-fold higher odds of ACS in GG carriers (OR = 8.624; 95% CI: 1.757–42.345; p = 0.008). For rs6025, A allele carriers (9.0%) were also reduced in ACS versus controls (18.3%; p = 0.049), and GG homozygotes exhibited a 2.6-fold higher risk (OR = 2.635; 95% CI: 1.104–6.290; p = 0.029). Age was independently associated with higher ACS risk (OR = 1.047; 95% CI: 1.029–1.066; p < 0.001). Conclusions: Our findings indicate that the rs1799963 and rs6025 variants were independently associated with ACS, together with advancing age. Both the GG genotype and older age were associated with higher odds of ACS, whereas A-allele carriers appeared less common among ACS cases.