Yukcu Fulya, Kaya Murtaza, Akcilar Raziye, Can Fatmagul, Yildirim Harun
Department of Biophysics, Faculty of Medicine, Kutahya Health Sciences University, Kutahya 43100, Turkey.
Department of Emergency Medicine, Faculty of Medicine, Kutahya Health Sciences University, Kutahya 43100, Turkey.
J Clin Med. 2025 Apr 17;14(8):2767. doi: 10.3390/jcm14082767.
Acute coronary syndrome (ACS) is a critical cardiovascular condition influenced by genetic and environmental factors. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and deoxyribonucleic acid methyltransferase-1 (DNMT-1) genes are linked to cardiovascular diseases, yet their specific roles in ACS pathogenesis remain unclear. This study examines the association of MTHFR C677T and DNMT-1 +32204 A/G polymorphisms with ACS and their potential contribution to genetic risk profiling. A case-control study was conducted with 212 participants, including 106 ACS patients and 106 controls. Peripheral blood samples were collected and analyzed to determine genotypic and allelic frequencies using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Statistical analyses were performed to assess associations between gene polymorphisms and ACS risk. : The MTHFR C677T polymorphism showed a strong association with ACS. The CC genotype significantly increased risk (OR: 7.34; 95% CI: 2.28-23.6; < 0.001), while the C allele was also associated with higher susceptibility (OR: 2.21; 95% CI: 1.46-3.35; < 0.001). Conversely, the T allele exhibited a protective effect, being more frequent in controls (62.9% vs. 37.1% in ACS; = 0.000). Elevated troponin I levels in ACS patients with the TT genotype ( = 0.025) suggested a link between MTHFR variants and disease severity. However, DNMT-1 +32204 A/G polymorphisms showed no significant association with ACS risk. The MTHFR C677T polymorphism influences ACS susceptibility, with the CC genotype as a risk factor and the T allele offering potential protection.
急性冠状动脉综合征(ACS)是一种受遗传和环境因素影响的严重心血管疾病。亚甲基四氢叶酸还原酶(MTHFR)和DNA甲基转移酶-1(DNMT-1)基因的多态性与心血管疾病有关,但其在ACS发病机制中的具体作用仍不清楚。本研究探讨MTHFR C677T和DNMT-1 +32204 A/G多态性与ACS的关联及其对遗传风险评估的潜在贡献。 对212名参与者进行了病例对照研究,其中包括106例ACS患者和106名对照。采集外周血样本并使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术进行分析,以确定基因型和等位基因频率。进行统计分析以评估基因多态性与ACS风险之间的关联。 :MTHFR C677T多态性与ACS密切相关。CC基因型显著增加风险(比值比:7.34;95%置信区间:2.28-23.6;P<0.001),而C等位基因也与较高的易感性相关(比值比:2.21;95%置信区间:1.46-3.35;P<0.001)。相反,T等位基因具有保护作用,在对照组中更为常见(ACS组为37.1%,对照组为62.9%;P=0.000)。TT基因型的ACS患者肌钙蛋白I水平升高(P=0.025),提示MTHFR变异与疾病严重程度之间存在联系。然而,DNMT-1 +32204 A/G多态性与ACS风险无显著关联。 MTHFR C677T多态性影响ACS易感性,CC基因型为危险因素,T等位基因具有潜在保护作用。