Factor V Leiden (R506Q), Prothrombin G20210A, and MTHFR C677T Variants and Thrombophilia in Qatar Biobank Participants: A Case Control Study.

IF 2.7 Q2 PATHOLOGY

Pathophysiology Pub Date : 2024-10-21 DOI:10.3390/pathophysiology31040044

Sapha Shibeeb, Nada Al-Rayashi, Nehal Shams, Tameem Hadvan, Ejaife O Agbani, Atiyeh M Abdallah

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引用次数: 0

Abstract

Background: Thrombophilia, a predisposition to develop blood clots, is very common and can have serious sequelae. Aim: This study aimed to determine the prevalence of three thrombophilia-related genetic variants-factor V Leiden (FVL), prothrombin (F2) G20210A, and MTHFR C677T-in the Qatari population and their associations with self-reported thrombosis. Methods: We analysed samples from 408 Qatari participants [304 controls and 104 with self-reported thrombosis (deep vein thrombosis, pulmonary embolus, or ischaemic stroke)] from the Qatar Biobank. FVL (rs6025), F2 (rs1799963), and MTHFR (rs1801133) variants were genotyped using TaqMan assays. Results: Participants with self-reported thrombosis were older and more likely to be female. FVL A allele carriage (GA + AA vs. GG) was significantly higher in thrombosis cases (OR 3.6, p = 0.0002). In addition, individuals carrying FVL AA and GA genotypes had a lower mean platelet volume on average than those with the GG genotype (p = 0.03). MTHFR C677T did not show a similar association, and the F2 G20210A variant was too rare for analysis. Conclusions: There were significant differences in FVL A allele carriage between individuals with a history of thrombosis and the control group. Future research should explore the complex interplay between genetics and environment in thrombosis risk within this population.

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卡塔尔生物库参与者的因子 V Leiden (R506Q)、凝血酶原 G20210A 和 MTHFR C677T 变异与血栓性疾病：病例对照研究。

背景：血栓性疾病是一种易患血凝块的疾病，非常常见，并可能产生严重的后遗症。目的：本研究旨在确定三种血栓性疾病相关遗传变异--因子 V Leiden (FVL)、凝血酶原 (F2) G20210A 和 MTHFR C677T--在卡塔尔人口中的患病率及其与自我报告的血栓形成之间的关系。研究方法我们分析了来自卡塔尔生物库的 408 名卡塔尔参与者[304 名对照组和 104 名自述血栓形成（深静脉血栓、肺栓塞或缺血性中风）患者]的样本。使用 TaqMan 检测法对 FVL（rs6025）、F2（rs1799963）和 MTHFR（rs1801133）变异进行了基因分型。结果自我报告血栓形成的参与者年龄较大，且更可能是女性。在血栓病例中，FVL A等位基因携带者（GA + AA 与 GG）明显较多（OR 3.6，p = 0.0002）。此外，FVL AA 和 GA 基因型携带者的平均血小板体积低于 GG 基因型携带者（p = 0.03）。MTHFR C677T 并未显示出类似的关联性，而 F2 G20210A 变异则过于罕见，无法进行分析。结论有血栓形成史的人与对照组之间在FVL A等位基因携带量上存在明显差异。未来的研究应探索遗传和环境在该人群血栓风险中的复杂相互作用。

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来源期刊

Pathophysiology Medicine-Pathology and Forensic Medicine

CiteScore

3.10

自引率

0.00%

发文量

期刊介绍： Pathophysiology is an international journal which publishes papers in English which address the etiology, development, and elimination of pathological processes. Contributions on the basic mechanisms underlying these processes, model systems and interdisciplinary approaches are strongly encouraged.