Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Department of Neurology, Zealand University Hospital, Roskilde, Denmark.
Blood Adv. 2023 Oct 10;7(19):5825-5834. doi: 10.1182/bloodadvances.2023010588.
Ischemic stroke has a high recurrence rate despite treatment. This underlines the significance of investigating new possible cerebrovascular risk factors, such as the acquired gene mutation JAK2V617F found in 3.1% of the general population. We aimed to investigate the prevalence of the JAK2V617F mutation in a population with ischemic stroke compared with that in matched controls. We enrolled 538 consecutive Danish patients with ischemic stroke (mean age, 69.5 ± 10.9 years; 39.2% female) within 7 days of symptom onset. Using multiple-adjusted conditional logistic regression analysis, we compared the prevalence of JAK2V617F with that in age- and sex-matched controls free of ischemic cerebrovascular disease (ICVD) from the Danish General Suburban Population Study. DNA was analyzed for JAK2V617F mutation using sensitive droplet digital polymerase chain reaction in patients and controls. Of the 538 patients with ischemic stroke, 61 (11.3%) had JAK2V617F mutation. There were no differences in patient demographics or cerebrovascular comorbidities between the patients with and without mutations. Patients with ischemic stroke were more likely to have the JAK2V617F mutation than matched controls, in whom the JAK2V617F prevalence was 4.4% (odds ratio, 2.37; 95% confidence interval, 1.57-3.58; P < .001). A subanalysis stratified by smoking history revealed that the association was strongest in current smokers (odds ratio, 4.78; 95% confidence interval, 2.22-10.28; P < .001). Patients with ischemic stroke were 2.4 times more likely to have the JAK2V617F mutation than matched controls without ICVD when adjusting for other cerebrovascular risk factors. This finding supports JAK2V617F mutation as a novel cerebrovascular risk factor.
尽管进行了治疗，缺血性中风的复发率仍然很高。这突显出研究新的可能的脑血管危险因素的重要性，例如在普通人群中发现的 3.1%的获得性基因突变 JAK2V617F。我们旨在调查缺血性中风患者中 JAK2V617F 突变的患病率与匹配对照组相比。我们招募了 538 名连续的丹麦缺血性中风患者（平均年龄 69.5 ± 10.9 岁；39.2%为女性），发病后 7 天内。使用多因素条件逻辑回归分析，我们比较了 JAK2V617F 突变的患病率与来自丹麦一般郊区人群研究的无缺血性脑血管疾病（ICVD）的年龄和性别匹配对照组。使用敏感的液滴数字聚合酶链反应在患者和对照组中分析 JAK2V617F 突变的 DNA。在 538 名缺血性中风患者中，有 61 名（11.3%）存在 JAK2V617F 突变。突变组和无突变组患者的人口统计学特征或脑血管合并症无差异。与匹配对照组相比，缺血性中风患者更有可能发生 JAK2V617F 突变，对照组 JAK2V617F 患病率为 4.4%（优势比，2.37；95%置信区间，1.57-3.58；P <.001）。按吸烟史分层的亚分析显示，在当前吸烟者中关联最强（优势比，4.78；95%置信区间，2.22-10.28；P <.001）。在调整其他脑血管危险因素后，与无 ICVD 的匹配对照组相比，缺血性中风患者发生 JAK2V617F 突变的可能性高 2.4 倍。这一发现支持 JAK2V617F 突变作为一种新的脑血管危险因素。
