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

Area of Science:

• Genetics
• Neurology
• Cardiology

Background:

• Ischemic stroke has a high recurrence rate, necessitating the identification of novel risk factors.
• The JAK2V617F gene mutation, present in 3.1% of the general population, is a potential, yet understudied, cerebrovascular risk factor.

Purpose of the Study:

• To investigate the prevalence of the JAK2V617F mutation in Danish ischemic stroke patients compared to matched controls.
• To determine if JAK2V617F mutation is an independent risk factor for ischemic cerebrovascular disease (ICVD).

Main Methods:

• A cohort of 538 consecutive Danish ischemic stroke patients (within 7 days of symptom onset) was compared with age- and sex-matched controls from the Danish General Suburban Population Study.
• Droplet digital polymerase chain reaction (ddPCR) was used to analyze DNA for the JAK2V617F mutation in both patients and controls.
• Multiple-adjusted conditional logistic regression analysis was employed to assess the association between JAK2V617F and ICVD, adjusting for cerebrovascular comorbidities.

Main Results:

• The JAK2V617F mutation was identified in 11.3% of ischemic stroke patients, compared to 4.4% in matched controls.
• Patients with ischemic stroke had a 2.37-fold increased likelihood of carrying the JAK2V617F mutation (OR, 2.37; 95% CI, 1.57-3.58; P < .001) after adjusting for risk factors.
• The association between JAK2V617F and ischemic stroke was significantly stronger in current smokers (OR, 4.78; 95% CI, 2.22-10.28; P < .001).

Conclusions:

• The JAK2V617F mutation is a novel and significant risk factor for ischemic stroke.
• Identifying and managing JAK2V617F may offer new therapeutic strategies for stroke prevention, particularly in smokers.