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Updated: Jun 21, 2026

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Published on: May 23, 2025
Common genetic coagulation variants are not associated with ischemic stroke in a case-control study
Susanna Moskau1, Kerstin Smolka, Alexander Semmler
1Department of Neurology, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.
Genetic testing for prothrombin 20210G-->A and factor XIII Val34Leu is not recommended for diagnosing ischemic stroke. Factor V Leiden showed a trend in cardioembolic stroke but lacked overall association.
Area of Science:
- Genetics
- Neurology
- Cardiovascular Medicine
Background:
- Coagulation pathway abnormalities are assessed in stroke patients, particularly young adults with cryptogenic stroke.
- Genetic factors influencing coagulation may increase stroke risk.
Purpose of the Study:
- To investigate the association between three common coagulation cascade genetic variants and ischemic stroke.
- To determine the diagnostic utility of these variants in stroke work-up.
Main Methods:
- Case-control study involving 167 ischemic stroke patients (TOAST subclassification) and 500 controls.
- Genotyping for factor V Leiden, prothrombin 20210G-->A, and factor XIII Val34Leu polymorphisms.
Main Results:
- Factor V Leiden showed a trend towards over-representation in cardioembolic stroke.
- Prothrombin 20210G-->A and factor XIII Val34Leu were not significantly associated with any stroke subtype.
- No association was found across different age subgroups.
Conclusions:
- Genetic analysis of prothrombin 20210G-->A and factor XIII Val34Leu is not clinically useful for ischemic stroke diagnosis.
- Factor V Leiden requires further investigation for specific stroke subtypes.
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