华法林患者和叙利亚健康受试者中VKORC1-1639G>A和rs397509427的频率

IF 3.4 4区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS
Cardiovascular Therapeutics Pub Date : 2023-11-23 eCollection Date: 2023-01-01 DOI:10.1155/2023/8898922
Yara Altawil, Lama A Youssef
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引用次数: 0

摘要

背景:维生素K环氧化物还原酶复合物亚基1 (VKORC1)基因编码一种具有多种细胞活性的关键酶,即将维生素K还原为活性形式。VKORC1-1639G>A (rs9923231)是一种常见的单核苷酸多态性,对华法林剂量和可能的其他生理功能有重要影响。本研究旨在调查叙利亚健康受试者和不同适应症华法林患者的VKORC1-1639G>A等位基因频率和基因型。方法:本横断面研究共纳入138人。提取华法林患者和健康受试者的基因组DNA,通过标准测序对聚合酶链反应(PCR)特异性扩增子进行基因分型,同时检测到rs397509427。绘制了-1639G>A频率与其他种群的比较。结果:94例使用华法林的患者中,53例(56.38%)合并特发性静脉血栓栓塞(VTE)。尽管-1639A等位基因的频率相似(47%和50%),但AA和GA基因型在健康受试者(n = 44)和华法林患者中分别具有93.2%和79.8%的不同频率。GG基因型携带者发生VTE的风险是AA和GA基因型携带者的4倍(优势比(OR) = 4, 95% CI = 1.105 ~ 13.6, P = 0.0469)。所有研究对象均为rs397509427变异的野生型。结论:我们的研究结果证明-1639A在叙利亚健康受试者和华法林患者中的高患病率,其频率与其他地中海和中东人群相当。A等位基因携带者的静脉血栓栓塞风险较低,而G等位基因的全球流行梯度被认为与静脉血栓栓塞风险相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Frequencies of VKORC1-1639G>A and rs397509427 in Patients on Warfarin and Healthy Syrian Subjects.

Background: Vitamin K epoxide reductase complex subunit 1 (VKORC1) gene encodes a key enzyme with multiple cellular activities, namely, the reduction of vitamin K to its active form. VKORC1-1639G>A (rs9923231) is a common single nucleotide polymorphism with a crucial impact on warfarin dosing and possibly other physiological functions. This study aimed at investigating the frequencies of VKORC1-1639G>A alleles and genotypes in Syrian healthy subjects and patients on warfarin for different indications.

Methods: A total of 138 individuals were enrolled in this cross-sectional study. Genomic DNA was extracted from both patients on warfarin and healthy subjects, and polymerase chain reaction (PCR) specific amplicons were genotyped via standard sequencing which also allowed the detection of rs397509427. Comparisons of -1639G>A frequency with other populations were drawn.

Results: Of 94 patients on warfarin, 53 (56.38%) were with idiopathic venous thromboembolism (VTE). Despite comparable frequencies of the -1639A allele (47% and 50%), the AA and GA genotypes were at disparate frequencies of 93.2% versus 79.8% in the healthy subjects (n = 44) versus patients on warfarin, respectively. Carriers of the GG genotype were at a four-fold increased risk of VTE in comparison with those of the AA and GA genotypes (odds ratio (OR) = 4, 95% CI = 1.105 - 13.6, P = 0.0469). All study subjects were wild-type for the rs397509427 variant.

Conclusions: Our results prove a high -1639A prevalence in Syrian healthy subjects and patients on warfarin at frequencies comparable to other Mediterranean and Middle Eastern populations. The A allele carriers are at a lower VTE risk, whereas a global prevalence gradient of the G allele is suggested to be associated with VTE risk.

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来源期刊
Cardiovascular Therapeutics
Cardiovascular Therapeutics 医学-心血管系统
CiteScore
5.60
自引率
0.00%
发文量
55
审稿时长
6 months
期刊介绍: Cardiovascular Therapeutics (formerly Cardiovascular Drug Reviews) is a peer-reviewed, Open Access journal that publishes original research and review articles focusing on cardiovascular and clinical pharmacology, as well as clinical trials of new cardiovascular therapies. Articles on translational research, pharmacogenomics and personalized medicine, device, gene and cell therapies, and pharmacoepidemiology are also encouraged. Subject areas include (but are by no means limited to): Acute coronary syndrome Arrhythmias Atherosclerosis Basic cardiac electrophysiology Cardiac catheterization Cardiac remodeling Coagulation and thrombosis Diabetic cardiovascular disease Heart failure (systolic HF, HFrEF, diastolic HF, HFpEF) Hyperlipidemia Hypertension Ischemic heart disease Vascular biology Ventricular assist devices Molecular cardio-biology Myocardial regeneration Lipoprotein metabolism Radial artery access Percutaneous coronary intervention Transcatheter aortic and mitral valve replacement.
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