血栓性遗传突变及其与COVID-19患者疾病严重程度的关系
Hend Moness1, Suzan Omar Mousa2, Sarah Omar Mousa3
1Clinical Pathology Department, Faculty of Medicine, Minia University, Minia, Egypt.
PloS one
|March 20, 2024
概括
严重的COVID-19与遗传性血栓性相关,其中V因子Leiden (FV R506Q) 突变构成严重疾病进展的最高风险. 这一发现突显了COVID-19严重程度的遗传倾向.
科学领域:
- 遗传学和分子生物学
- 传染性疾病 传染性疾病
- 血液学 血液学 血液学
背景情况:
- COVID-19 感染可能导致高凝血性和血栓性事件.
- 遗传性血栓性是血栓形成的已知危险因素.
研究的目的:
- 为了调查特定的血栓友爱基因突变与COVID-19严重程度之间的关联.
- 为了确定前激素G20210A,V莱登因子 (FV R506Q) 和甲基四基叶酸还原酶 (MTHFR) 的突变是否与严重的COVID-19相关.
主要方法:
- 140名患有轻度或重度COVID-19的患者 (80名成年人,60名儿童) 的前性横截面研究.
- 评估了V因子 (FV R506Q,FV R2H1299R),MTHFR (A1298C,C677T) 和前热血素G20210A多态.
- 评估了结血栓事件的临床和放射学证据,以及D-dimer.等实验室标记物.
主要成果:
- 在所有研究的血栓性基因中,与轻度病例相比,在严重的COVID-19病例中,异构基因突变的发生频率明显高 (p<0.05).
- 莱登V因子 (FV R506Q) 突变显示了COVID-19严重疾病过程的最高风险 (p<0.0001).
- 升高的D-二聚体水平与FV R506Q,FV R2H1299R和前列血G20210A的异构基因突变有关.
结论:
- 严重的COVID-19和遗传性血栓友之间存在明显的关系.
- 已确定FV R506Q基因突变是发展严重COVID-19疾病过程的重要风险因素.
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