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Updated: Jul 8, 2026

A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
Thrombomodulin gene polymorphisms in brain infarction and mortality after stroke
Jean-Marc Olivot1, Julien Labreuche, Thomas De Broucker
1INSERM U698 and Denis Diderot University - Paris VII, Dept. of Neurology and Stroke Center, Bichat University Hospital, Paris, France.
Genetic variations in thrombomodulin do not influence soluble thrombomodulin levels or the risk of brain infarction and subsequent mortality. These thrombomodulin gene polymorphisms are not linked to stroke outcomes.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Neurology
Background:
- Thrombomodulin (TM) is crucial for regulating thrombin generation and cellular activation on endothelial surfaces.
- TM gene polymorphisms have been previously linked to cardiovascular events like coronary events and brain infarction.
- Soluble thrombomodulin (sTM) concentration was found to influence brain infarction risk and prognosis in prior research.
Purpose of the Study:
- To investigate the association between three specific thrombomodulin gene polymorphisms (-1748G/C, -1208/-1209delTT, +1418C/T) and sTM levels.
- To determine if these polymorphisms affect the risk of brain infarction.
- To evaluate the impact of these polymorphisms on 5-year mortality after stroke.
Main Methods:
- Analysis of 474 brain infarction cases and 483 controls from the GENIC study.
- Genotyping for three thrombomodulin gene polymorphisms and measurement of sTM levels.
- Statistical analysis including single locus, haplotype, and survival analyses for brain infarction risk and mortality.
Main Results:
- The three studied thrombomodulin gene polymorphisms were in linkage disequilibrium and formed three major haplotypes.
- No significant influence of these polymorphisms or haplotypes on sTM concentration was observed (P > 0.16).
- No significant association was found between the polymorphisms and brain infarction risk or 5-year vascular/total mortality (P > 0.64).
Conclusions:
- The investigated thrombomodulin gene polymorphisms do not appear to affect sTM levels.
- These specific thrombomodulin gene polymorphisms are not associated with an increased risk of brain infarction.
- The studied polymorphisms do not correlate with mortality risk following a stroke.
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