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Published on: September 9, 2012
Factor XIII-A subunit Val34Leu polymorphism in fatal atherothrombotic ischemic stroke
Amir-Houshang Shemirani1, Bálint Antalfi, Endre Pongrácz
1aMTA-DE Vascular Biology, Thrombosis and Hemostasis Research Group, Hungarian Academy of Sciences, University of Debrecen, Medical and Health Science Center, Debrecen bLabPharm Kft, Sátoaljaújhely cDepartment of Pathology, Diósgyori Vasgyári Hospital, Miskolc dDepartment of Neurology, Hetényi Géza Hospital, Szolnok eClinical Research center, University of Debrecen, Medical and Health Science Center fDepartment of Internal medicine, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary.
The Factor XIII (FXIII) Val34Leu polymorphism does not affect ischemic stroke risk but increases fatality risk in women with AIS. This FXIII-A genetic variation shows sex-specific effects on stroke severity.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Thrombosis
Background:
- Factor XIII (FXIII) regulates fibrinolysis and clot firmness.
- The FXIII-A Val34Leu polymorphism accelerates FXIII activation and influences clot structure.
- Previous studies on FXIII-A Val34Leu and atherothrombotic ischemic stroke (AIS) risk yielded conflicting results, lacking sex-specific analysis.
Purpose of the Study:
- To investigate the sex-specific effect of FXIII-A Val34Leu polymorphism on the risk of fatal AIS.
- To analyze FXIII-A Val34Leu genotypes in patients deceased from AIS compared to controls.
Main Methods:
- Retrospective multicenter cohort study.
- DNA analysis from paraffin-embedded tissues of 316 AIS fatalities and peripheral blood leukocytes from controls.
- Logistic regression analysis adjusted for age.
Main Results:
- No significant difference in FXIII-A Val34Leu allele or genotype prevalence between fatal AIS patients and controls.
- Homozygous Leu34 allele in women was associated with a >3-fold increased risk of fatal AIS.
- FXIII-A Val34Leu polymorphism impacts AIS outcome severity, not occurrence.
Conclusions:
- FXIII-A Val34Leu polymorphism exhibits a sex-specific effect on AIS fatality.
- In homozygous women, prothrombotic/antifibrinolytic effects of FXIII-A Val34Leu may prevail, increasing stroke severity.
- This genetic variation is linked to poorer outcomes in female AIS patients.
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