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Published on: April 1, 2019
Prevalence of prothrombotic polymorphisms in a selected cohort of cryptogenic and noncryptogenic ischemic stroke
Rocco Salvatore Calabrò1, Paolino La Spina, Salvatore Serra
1IRCCS Centro Neurolesi Bonino-Pulejo, Cda Casazza, Messina, Italy. salbro77@tiscali.it
Insights
Genetic variations common in prothrombotic states were not significantly more prevalent in young cryptogenic ischemic stroke patients. This suggests other factors contribute to stroke causes in this demographic.
Area of Science:
- Neurology
- Genetics
- Cardiovascular Medicine
Background:
- Ischemic stroke is a complex condition, with up to 30% of cases, particularly in younger individuals, being cryptogenic (of unknown cause).
- Prothrombotic states, characterized by genetic predispositions to blood clot formation, are potential underlying factors in cryptogenic ischemic stroke.
- Identifying genetic risk factors is crucial for understanding stroke etiology and developing targeted prevention strategies, especially in younger populations.
Purpose of the Study:
- To investigate the prevalence of common genetic polymorphisms associated with prothrombotic states in patients under 55 years of age who experienced ischemic stroke.
- To determine if specific genetic variations are more common in patients with cryptogenic ischemic stroke compared to those with stroke of a determined cause.
Main Methods:
- A cohort of 101 ischemic stroke patients under 55 years old was studied.
- Extensive diagnostic evaluations were performed to identify stroke causes.
- Genetic analysis focused on common variations in genes for factor V, prothrombin, 5,10-methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and human platelet alloantigens-1.
Main Results:
- Genetic polymorphisms were present in 44% of all patients and 48% of cryptogenic ischemic stroke patients.
- No significant difference was found in the prevalence of the investigated genetic polymorphisms between patients with cryptogenic ischemic stroke and those with stroke of determined cause.
- The study included 28 patients with cryptogenic ischemic stroke out of 101 total ischemic stroke patients.
Conclusions:
- Common genetic polymorphisms related to prothrombotic states do not appear to be a significant distinguishing factor for cryptogenic ischemic stroke in individuals under 55.
- The findings suggest that other, potentially non-genetic or less common genetic factors, may play a more substantial role in the etiology of cryptogenic ischemic stroke in younger populations.
- Further research is needed to explore alternative risk factors and genetic markers contributing to stroke in young adults.
Abstract:
Ischemic stroke is a complex multifactorial disease and approximately 30%, especially in the young, are cryptogenic. In some of the patients with cryptogenic ischemic stroke the underlying risk factor may be a prothrombotic state. We studied 101 patients with ischemic stroke under 55 years of age. All the patients underwent an extensive diagnostic evaluation to determine the cause of stroke. Common variations in the genes encoding factor V, prothrombin, 5,10-methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and human platelet alloantigens-1 were evaluated. Of the 101 patients with ischemic stroke, 28 patients had cryptogenic ischemic stroke. At least one of the different genetic polymorphisms investigated was present in 44% patients in the total group and in 48% of patients with cryptogenic ischemic stroke. In this study population under 55 years of age there was no significant difference in the prevalence of various genetic polymorphisms, factor V, prothrombin, 5,10-methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and human platelet alloantigens) in patients with cryptogenic ischemic stroke and in patients with ischemic stroke of determined cause.
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