JAK2V617F mutation is highly prevalent in patients with ischemic stroke: a case-control study

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt


  • Fulltext

    Forlagets udgivne version, 351 KB, PDF-dokument

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.
TidsskriftBlood advances
Udgave nummer19
Sider (fra-til)5825-5834
Antal sider10
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
Grants were provided by the Greater Copenhagen Health Science Partners, Region Zealand Research Foundation, Toyota Foundation, Harboe Foundation, A.P. Moeller Foundation, Carpenter Sophus Jacobsen and Spouse Astrid Jacobsen Scholarship, Manufacturer Einar Willumsens Scholarship, Merchant A.V. Lykfeldt Scholarship, and the Department of Neurology, Zealand University Hospital, Denmark. GESUS was funded by the Region Zealand Research Foundation, Naestved Hospital Foundation, Naestved Municipality, Johan and Lise Boserup Foundation, Tryg-Fonden, Johannes Fog’s Foundation, Region Zealand, Naestved Hospital, The National Board of Health, and The Local Government

Funding Information:
Conflict-of-interest disclosure: H.C.H. has received a research grant from Novartis. The remaining authors declare no competing financial interest.

Publisher Copyright:
© 2023 American Society of Hematology. All rights reserved.

ID: 375055364