Department of Neurosciences, "Iuliu Haţieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Department of Pharmacology, Toxicology and Clinical Pharmacology, "Iuliu Haţieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Medicine (Baltimore). 2023 Aug 25;102(34):e34836. doi: 10.1097/MD.0000000000034836.
Acute ischemic stroke is a major cause of morbidity and mortality worldwide, and genetic factors play a role in the risk of stroke. Single nucleotide polymorphisms (SNPs) in the VKORC1, CYP4F2, and GGCX genes have been linked to clinical outcomes, such as bleeding and cardiovascular diseases. This study aimed to investigate the association between specific polymorphisms in these genes and the risk of developing the first episode of acute ischemic stroke in patients without a known embolic source. This retrospective, cross-sectional, observational, analytical, case-control study included adult patients diagnosed with acute ischemic stroke. The SNPs in VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 genes were genotyped and analyzed together with the demographic and clinical factors of the 2 groups of patients. The presence of SNPs in VKORC1 or CYP4F2 genes significantly increased the risk of ischemic stroke in the context of smoking, arterial hypertension, and carotid plaque burden. The multivariate logistic model revealed that smoking (odds ratio [OR] = 3.920; P < .001), the presence of carotid plaques (OR = 2.661; P < .001) and low-density lipoprotein cholesterol values >77 mg/dL (OR = 2.574; P < .001) were independently associated with stroke. Polymorphisms in the VKORC1 and CYP4F2 genes may increase the risk of ischemic stroke in patients without a determined embolic source. Smoking, the presence of carotid plaques, and high low-density lipoprotein cholesterol levels were reconfirmed as important factors associated with ischemic stroke.
急性缺血性脑卒中是全球范围内发病率和死亡率的主要原因，遗传因素在中风风险中起作用。VKORC1、CYP4F2 和 GGCX 基因中的单核苷酸多态性（SNP）与出血和心血管疾病等临床结局相关。本研究旨在探讨这些基因中的特定 SNP 与无已知栓塞源的患者首次发生急性缺血性卒中风险之间的关系。这项回顾性、横断面、观察性、分析性、病例对照研究纳入了诊断为急性缺血性卒中的成年患者。VKORC1 rs9923231、CYP4F2 rs2108622、GGCX rs11676382 基因的 SNP 进行了基因分型，并与 2 组患者的人口统计学和临床因素一起进行了分析。VKORC1 或 CYP4F2 基因中的 SNP 存在显著增加了在吸烟、动脉高血压和颈动脉斑块负担的情况下发生缺血性卒中的风险。多变量逻辑模型显示，吸烟（比值比[OR] = 3.920；P <.001）、颈动脉斑块存在（OR = 2.661；P <.001）和低密度脂蛋白胆固醇值 >77mg/dL（OR = 2.574；P <.001）与中风独立相关。VKORC1 和 CYP4F2 基因中的多态性可能会增加无确定栓塞源的患者发生缺血性卒中的风险。吸烟、颈动脉斑块的存在和高的低密度脂蛋白胆固醇水平再次被证实是与缺血性卒中相关的重要因素。
