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Peer-reviewedCC BY-NCJournal of stroke

Genetic Insights Into Cryptogenic Stroke: From Etiologic Heterogeneity to Clinical Translation.

  • Lanxin Li1,2
  • Zihan Sun3
  • Huihui Wang4
  • Jie Zhang5,6
  • Si Cheng7,8
8 affiliations
  1. 1China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
  2. 2Beijing Key Laboratory of Drug and Device Research and Development for Cerebrovascular Diseases, Beijing, China.
  3. 3Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
  4. 4Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
  5. 5China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. [email protected].
  6. 6Beijing Key Laboratory of Drug and Device Research and Development for Cerebrovascular Diseases, Beijing, China. [email protected].
  7. 7China National Clinical Research Center for Neurological Diseases, Beijing Tiantan Hospital, Capital Medical University, Beijing, China. [email protected].
  8. 8Beijing Key Laboratory of Drug and Device Research and Development for Cerebrovascular Diseases, Beijing, China. [email protected].
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Abstract

Cryptogenic stroke remains challenging because its complex etiology and limited diagnostic tools hinder precise secondary prevention. Growing genetic evidence suggests that cryptogenic stroke may have identifiable genetic architectures that provide additional insights into etiologic classification. In recent years, large-scale genome-wide association studies, multi-omics integration, and other genetic investigations have begun to reveal signals linked to several potential causes, including occult atrial fibrillation and atrial cardiopathy, nonstenotic carotid artery plaque, patent foramen ovale-related paradoxical embolism, monogenic disorders, clonal hematopoiesis of indeterminate potential, and cancer-related thrombosis. These findings suggest a possible shift from exclusion-based diagnosis toward a more mechanism-driven approach. Recent genetic discoveries have enabled preliminary work on predictive models for risk stratification. Emerging genetic tools may also offer promising approaches for etiologic stratification and mechanistic investigation. However, current research in this area remains limited by heterogeneous definitions, modest sample sizes, limited ancestral diversity, and gaps in mechanistic and prognostic evidence. Consequently, clinical translation remains at an early stage. Future research should establish larger and more diverse genomic cohorts with longitudinal phenotyping and advance multidimensional data integration. These efforts may refine etiologic classification and support precision treatment in cryptogenic stroke.

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Cite

BibTeXRIS
BibTeX
@article{li2026genetic,
  title = {{Genetic Insights Into Cryptogenic Stroke: From Etiologic Heterogeneity to Clinical Translation.}},
  author = {Lanxin Li and Zihan Sun and Huihui Wang and Jie Zhang and Si Cheng},
  journal = {Journal of stroke},
  year = {2026},
  month = sep,
  doi = {10.5853/jos.2026.03923},
  url = {https://europepmc.org/article/MED/42894450},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Genetic Insights Into Cryptogenic Stroke: From Etiologic Heterogeneity to Clinical Translation.
AU  - Lanxin Li
AU  - Zihan Sun
AU  - Huihui Wang
AU  - Jie Zhang
AU  - Si Cheng
PY  - 2026
DA  - 2026/09/30
JO  - Journal of stroke
DO  - 10.5853/jos.2026.03923
UR  - https://europepmc.org/article/MED/42894450
AB  - Cryptogenic stroke remains challenging because its complex etiology and limited diagnostic tools hinder precise secondary prevention. Growing genetic evidence suggests that cryptogenic stroke may have identifiable genetic architectures that provide additional insights into etiologic classification. In recent years, large-scale genome-wide association studies, multi-omics integration, and other genetic investigations have begun to reveal signals linked to several potential causes, including occult atrial fibrillation and atrial cardiopathy, nonstenotic carotid artery plaque, patent foramen ovale-related paradoxical embolism, monogenic disorders, clonal hematopoiesis of indeterminate potential, and cancer-related thrombosis. These findings suggest a possible shift from exclusion-based diagnosis toward a more mechanism-driven approach. Recent genetic discoveries have enabled preliminary work on predictive models for risk stratification. Emerging genetic tools may also offer promising approaches for etiologic stratification and mechanistic investigation. However, current research in this area remains limited by heterogeneous definitions, modest sample sizes, limited ancestral diversity, and gaps in mechanistic and prognostic evidence. Consequently, clinical translation remains at an early stage. Future research should establish larger and more diverse genomic cohorts with longitudinal phenotyping and advance multidimensional data integration. These efforts may refine etiologic classification and support precision treatment in cryptogenic stroke.
SN  - 2287-6391
SN  - 2287-6405
ER  -