大动脉瘤风险和体质JAK2突变:多中心,基于人群的心血管查研究的见解
Lasse M Obel1,2,3, Joachim S Skovbo1,2,3, Axel C P Diederichsen1,4
1Elite Centre for Individualized Medicine in Arterial Disease (L.M.O., J.S.S., A.C.P.D., L.M.R., J.S.L.), Odense University Hospital, Denmark.
Circulation
|June 4, 2025
概括
这种JAK2 V617F突变与上升性大动脉瘤有关,更高的变异性基因频率与风险和大小的增加有关. 这种遗传因素与下降或腹腔大动脉瘤没有显著相关.
科学领域:
- 心血管遗传学
- 血液学
- 血管生物学
背景情况:
- 这种JAK2 V617F突变是骨髓增殖性瘤的关键驱动因素.
- 之前的研究表明JAK2 V617F与大动脉动脉瘤的风险增加之间存在联系.
研究的目的:
- 调查JAK2 V617F变异基因频率 (VAF) 与上升,下降和腹腔大动脉瘤的存在和严重程度之间的关联.
主要方法:
- 在DANCAVAS I和II试验的横截面子研究中,有8056名参与者.
- 参与者进行了JAK2 V617F序列变异测试,并通过计算机断层扫描评估了主动脉直径.
主要成果:
- JAK2 V617F变异与上升的大动脉动脉瘤有显著的相关性,较高的VAF与风险增加和动脉瘤大小相关.
- 在6. 4%的JAK2V617F阴性个体中观察到上升性大动脉瘤,在VAF< 1%的个体中观察到9. 0%,在VAF ≥ 1%的个体中观察到16. 5% (P< 0. 001).
- 没有发现JAK2 V617F与下降性或腹腔大动脉瘤之间的显著关联.
结论:
- 身体上的JAK2 V617F变异与上升性大动脉瘤独立相关.
- 上升性大动脉瘤大小与JAK2 V617F VAF之间存在正相关性.
- 在患有上升性大动脉瘤的患者中,可能需要对JAK2 V617F进行临床查,反之亦然.
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