Shibeeb Sapha, Al-Rayashi Nada, Shams Nehal, Hadvan Tameem, Agbani Ejaife O, Abdallah Atiyeh M
School of Health and Biomedical Sciences, RMIT University, P.O. Box 71, Bundoora, Melbourne, VIC 3083, Australia.
Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha 2713, Qatar.
Pathophysiology. 2024 Oct 21;31(4):608-620. doi: 10.3390/pathophysiology31040044.
Thrombophilia, a predisposition to develop blood clots, is very common and can have serious sequelae. 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. 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. 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, = 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 ( = 0.03). MTHFR C677T did not show a similar association, and the F2 G20210A variant was too rare for analysis. 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.
血栓形成倾向是一种易于形成血凝块的体质，非常常见且可能产生严重的后遗症。本研究旨在确定卡塔尔人群中三种与血栓形成倾向相关的基因变异——凝血因子V莱顿（FVL）、凝血酶原（F2）G20210A和亚甲基四氢叶酸还原酶（MTHFR）C677T——的患病率及其与自我报告的血栓形成之间的关联。我们分析了来自卡塔尔生物样本库的408名卡塔尔参与者的样本[304名对照者和104名自我报告有血栓形成（深静脉血栓形成、肺栓塞或缺血性中风）者]。使用TaqMan分析对FVL（rs6025）、F2（rs1799963）和MTHFR（rs1801133）变异进行基因分型。自我报告有血栓形成的参与者年龄更大，且更有可能为女性。血栓形成病例中FVL A等位基因携带率（GA + AA与GG相比）显著更高（比值比3.6，P = 0.0002）。此外，携带FVL AA和GA基因型的个体平均血小板体积低于携带GG基因型的个体（P = 0.03）。MTHFR C677T未显示出类似的关联，且F2 G20210A变异过于罕见无法进行分析。有血栓形成病史的个体与对照组之间在FVL A等位基因携带率方面存在显著差异。未来的研究应探索该人群中血栓形成风险方面基因与环境之间的复杂相互作用。
