Department of Family Medicine, Faculty of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkiye.
Eskişehir Local Health Authority, Eskişehir, Turkiye.
Turk J Med Sci. 2024 Jun 12;54(4):682-687. doi: 10.55730/1300-0144.5837. eCollection 2024.
BACKGROUND/AIM: We aimed to determine the genetic risk factors in patients aged 45 years and below with a history of early myocardial infarction (MI), compared to individuals over 60 years of age with no history of MI.
In this study, we selected different age groups to more clearly distinguish genetic differences. Accordingly, we compared individuals who had experienced MI at an early age with those who were older and had not experienced any cardiovascular events. The patient group consisted of 99 volunteers under the age of 45 with a history of MI, while the control group included 99 volunteers aged 60 and over without a history of MI. MTHFR (C677T, A1298C), Factor V Leiden (G1691A), Prothrombin (G20210A), PAI (4G/5G), Factor XIII (V34L), APOA1 (rs670, rs1799837, rs5069), and APOB were studied using blood samples taken from the patients.
In the logistic regression analysis of thrombophilia markers and gene polymorphisms in the patient and control groups, no statistically significant increase was observed in markers other than APOA1 rs5069 gene polymorphism. APOA1 rs5069 gene polymorphism was found to be higher in the patient group than those without this polymorphism. The frequencies of homozygous MTHFR (C677T, A1298C) and heterozygous Factor XIII V34L were higher in the patient cohort compared to the controls.
In our study, we found that prothrombotic gene variants and APOA1 rs5069 polymorphism were statistically significantly associated with coronary artery disease. Thus, prothrombotic gene variants and APOA1 rs5069 polymorphism may serve as predictors of early myocardial infarctions. Individuals with early family histories of coronary artery disease could be screened for these mutations.
背景/目的：我们旨在确定有早发性心肌梗死（MI）病史的 45 岁及以下患者与无 MI 病史的 60 岁以上患者的遗传风险因素。
在这项研究中，我们选择了不同的年龄组，以便更清楚地区分遗传差异。因此，我们比较了年龄较小且发生过 MI 的个体与年龄较大且没有发生过任何心血管事件的个体。患者组由 99 名年龄在 45 岁以下且有 MI 病史的志愿者组成，对照组由 99 名年龄在 60 岁及以上且无 MI 病史的志愿者组成。使用从患者身上采集的血液样本研究了 MTHFR（C677T、A1298C）、因子 V 莱顿（G1691A）、凝血酶原（G20210A）、PAI（4G/5G）、因子 XIII（V34L）、载脂蛋白 A1（rs670、rs1799837、rs5069）和载脂蛋白 B。
在对患者组和对照组的血栓形成标志物和基因多态性进行逻辑回归分析时，除载脂蛋白 A1 rs5069 基因多态性外，其他标志物均未观察到统计学上的显著增加。与没有该多态性的患者相比，患者组的载脂蛋白 A1 rs5069 基因多态性更高。与对照组相比，患者组纯合子 MTHFR（C677T、A1298C）和杂合子因子 XIII V34L 的频率更高。
在我们的研究中，我们发现促血栓形成基因变异和载脂蛋白 A1 rs5069 多态性与冠状动脉疾病具有统计学显著相关性。因此，促血栓形成基因变异和载脂蛋白 A1 rs5069 多态性可能是早发性心肌梗死的预测因子。有早发性家族性冠状动脉疾病史的个体可以对这些突变进行筛查。
