Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke

  • Wu Chen
  • Bharati Sinha
  • Yi Li
  • Larry Benowitz
  • Qinhua Chen
  • Zhenghong Zhang
  • Nirav J. Patel
  • Ali M. Aziz-Sultan
  • Antonio E. Chiocca
  • Xin Wang


Ischemic stroke (IS) is a leading disease with high mortality and disability, as well as with limited therapeutic window. Biomarkers for earlier diagnosis of IS have long been pursued. Family and twin studies confirm that genetic variations play an important role in IS pathogenesis. Besides DNA mutations found previously by genetic linkage analysis for monogenic IS (Mendelian inheritance), recent studies using genome-wide associated study (GWAS) and microRNA expression profiling have resulted in a large number of DNA and microRNA biomarkers in polygenic IS (sporadic IS), especially in different IS subtypes and imaging phenotypes. The present review summarizes genetic markers discovered by clinical studies and discusses their pathogenic molecular mechanisms involved in developmental or regenerative anomalies of blood vessel walls, neuronal apoptosis, excitotoxic death, inflammation, neurogenesis, and angiogenesis. The possible impact of environment on genetics is addressed as well. We also include a perspective on further studies and clinical application of these IS biomarkers.


Biomarkers Genetics Ischemic stroke MicroRNA Monogenic Polygenic 


Funding Information

This work was supported by grants from the Bill and Melinda Gates Foundation (to X. W.), Grant/Award Number: 01075000191 and OPP1099070; the Brigham and Women’s Hospital BRI Fund to Sustain Research Excellence (to X. W.); the National Institutes of Health/National Institute of Neurological Disorders and Stroke (to X. W.), Grant/Award Number: NS055072; Adelson Medical Research Foundation (to L. B., Subcontractor X. W.); National Natural Science Foundation of China (to Z. Z.), Grant Number: 81344438.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of NeurosurgeryBrigham and Women’s Hospital, Harvard Medical SchoolBostonUSA
  2. 2.Department of Clinical Laboratory, Dongfeng HospitalHubei University of MedicineShiyanChina
  3. 3.Department of Newborn Medicine Brigham and Women’s HospitalBostonUSA
  4. 4.Department of Neurosurgery, Boston Children’s Hospital, F.M. Kirby Neurobiology Center for Life ScienceHarvard Medical SchoolBostonUSA
  5. 5.Experimental Center, Dongfeng HospitalHubei University of MedicineShiyanChina
  6. 6.Department of Neurology, Dongfeng HospitalHubei University of MedicineShiyanChina

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