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Published on: April 1, 2019
Polymorphisms in prothrombotic genes in young stroke patients in Greece: a case-controlled study
Kyriaki Ranellou1, Anteia Paraskeva, Panagiotis Kyriazopoulos
1aDepartment of Physiology, University of Ioannina, Medical School, Ioannina bDepartment of Anesthesiology, Aretaieio Hospital, University of Athens cThalassemia Centre, Unit of Prenatal Diagnosis, Laiko Hospital, Athens dDepartment of Pathology, University of Ioannina, Medical School, Ioannina eDepartment of Laboratory Hematology, Evangelismos Hospital fDepartment of Neurology, Evangelismos Hospital, Athens gDepartment of Physiology, 'Democritus' University, Medical School, Alexandroupoli, Greece.
Genetic variations in prothrombotic genes, particularly the PAI-1 4G/5G polymorphism, show differences between young ischemic stroke patients and controls. This suggests a potential role in stroke risk for these genetic factors in younger populations.
Area of Science:
- Genetics
- Neurology
- Cardiovascular Medicine
Background:
- Ischemic stroke mechanisms in young adults remain poorly understood.
- Prothrombotic gene variations are implicated in stroke risk, but their role in younger individuals requires further investigation.
Purpose of the Study:
- To compare the frequency of common prothrombotic gene variations between young ischemic stroke patients and healthy controls.
- To identify potential genetic risk factors for ischemic stroke in adults under 50 years of age.
Main Methods:
- A case-control study involving 51 young ischemic stroke patients and 70 healthy controls (age <50).
- Genotyping for the -675 4G/5G PAI-1, -844 G/A PAI-1, Factor V Leiden (FVL), Prothrombin G20210A (FIIG20210A), Factor XIII-A Val34Leu (FXIII-AVal34Leu), and MTHFR C677T polymorphisms.
- Statistical analysis to compare allele and genotype frequencies between cases and controls.
Main Results:
- A significant difference in the allele distribution of the -675 4G/5G PAI-1 polymorphism was observed between young ischemic stroke patients and controls (P=0.020).
- Young stroke patients exhibited a lower frequency of the 5G/5G genotype and a higher frequency of the 4G/5G genotype for the PAI-1 -675 4G/5G polymorphism compared to controls.
- No significant differences were found for the -844 G/A PAI-1, FVL, FIIG20210A, FXIII-AVal34Leu, and MTHFR C677T polymorphisms.
Conclusions:
- The PAI-1 -675 4G/5G polymorphism may play a role in the risk of ischemic stroke in young adults.
- Further epidemiological and prospective studies are warranted to confirm these findings and explore geographic variations and the potential protective effect of the 5G/5G polymorphism.

