Evidence map›Paper›PMID 41654631›Full record

ArticleJournal of neurology2026

JAK2 pathogenic variants in ischemic stroke: low prevalence and pre-screening model.

Jialu Zhao, Siqi Ge, Shujun Gao, Liting Xue, Yanfeng Shi, Chaoxia Lu, Fang Fang, Hui Wang, Yumei Zhang, Yulin Zhang and 13 more

Abstract read
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In one paragraph

Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Jialu Zhao *China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Siqi Ge *Department of Neuroepidemiology, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
Shujun Gao *Department of Emergency Medicine, Puyang Oilfield General Hospital, Henan, 457001, China.
Liting XueShanxi Provincial People's Hospital Affiliated to Shanxi Medical University, Taiyuan, China.
Yanfeng ShiChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Chaoxia LuChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Fang FangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Hui WangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Yumei ZhangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Yulin ZhangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Cang GuoBeijing Tiantan Hospital, Capital Medical University, Beijing, China.
Meng WangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Yijun ZhangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Manqi ZhengChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Qin XuChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Anxin WangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Hongqiu GuChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Wanlin ZhuChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Yong JiangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Hao LiChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Xia MengChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.
Yongjun WangChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China.ORCID http://orcid.org/0000-0002-9976-2341
Wei LiChina National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, No. 119, South Fourth Ring West Road, Fengtai District, Beijing, 100070, China. wei2018@ncrcnd.org.cn.

Funding

Beijing Hospitals Authority Clinical Medicine Development of special funding support ZLRK202312Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences 2019-I2M-5-029National Key Research and Development Program of China 2022YFC2502400National Key Research and Development Program of China 2022YFC2502404National Natural Science Foundation of China 82301481
6 · The paper itself

Abstract

objectiveOur study aimed to determine the prevalence and clinical phenotypes of JAK2 pathogenic mutation carriers in the CNSR-III ischemic stroke (IS) cohort, and to develop a pre-test genetic screening model for identifying high-risk individuals.

methodsWe performed retrospective characterization of JAK2 pathogenic variants using targeted sequencing data in the CNSR-III cohort. Clinical and laboratory characteristics of JAK2 V617F mutation carriers and non-carriers were tested in a logistic regression model to identify key features. V617F screening score was developed to predict positive JAK2 V617F test results.

results46 cases (0.4%, 46/10428) harbored the JAK2 V617F-exclusive mutation. Mutation carriers manifested significantly inferior functional outcomes following stroke relative to non-carriers (adjusted OR 2.74[1.07, 6.49]). Significant predictors of mutation status comprised elevated platelet count (PLT, OR 1.02[1.02, 1.03]), increased hemoglobin concentrations (HGB, OR 1.06 [1.04, 1.08]), and a reduced burden of traditional stroke risk factors, such as history of hypertension (OR 0.24[0.11, 0.52]), smoking history (OR 0.08[0.02, 0.24]), and body mass index (BMI, OR 0.8[0.75, 0.97]). We constructed the JAK2 V617F screening score, which efficiently discriminated between carriers and non-carriers (area under the ROC curve, AUC 0.98), achieving sensitivity of 85%, specificity of 94%, and accuracy of 94% for a cut-off score of 3 points. Internal validation confirmed robust performance, with a consistent AUC of 0.98.

conclusionsDespite low prevalence (0.4%), JAK2 V617F mutation represents a clinically actionable stroke subtype with distinct pathophysiology. The prediction model offers a precision medicine approach, potentially reducing the need for comprehensive genetic testing.

Indexed as

Ischemic StrokeJanus Kinase 2StrokeAgedFemaleGenetic TestingHumansMaleMiddle AgedMutationPrevalenceRetrospective StudiesJAK2 protein, humanJanus Kinase 2JAK2 V617FPathogenicScreening modelStroke

Identifiers

PMID41654631

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.