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Published on: April 1, 2019
Association between factor XIII single nucleotide polymorphisms and aneurysmal subarachnoid hemorrhage
Claes Ladenvall1, Ludvig Csajbok, Karin Nylén
1Institute of Neuroscience and Physiology, Department of Neuroscience and Rehabilitation, the Sahlgrenska Academy at the University of Gothenburg, Sweden.
Journal of Neurosurgery
|December 9, 2008
Summary
Genetic factors influence aneurysmal subarachnoid hemorrhage (aSAH) risk. Factor XIII (FXIII) gene polymorphisms, specifically the 34Leu allele, are associated with increased aSAH risk, suggesting a biological link to bleeding susceptibility.
Area of Science:
- Genetics
- Neuroscience
- Cardiovascular Science
Background:
- Family studies suggest genetic predisposition to aneurysmal subarachnoid hemorrhage (aSAH).
- The fibrinolytic system's role in aSAH and outcome prediction is under investigation.
- Genetic risk factors for aSAH remain largely undefined.
Purpose of the Study:
- Investigate associations between functional gene variants in fibrinolysis and aSAH risk.
- Examine the relationship between these genetic variants and patient outcomes post-aSAH.
- Identify specific genetic markers that may predict aSAH susceptibility.
Main Methods:
- Recruited 183 aSAH patients and 366 matched healthy controls.
- Analyzed single nucleotide polymorphisms (SNPs) in tissue-type plasminogen activator (tPA), PAI-1, TAFI, and factor XIII (FXIII) genes.
- Assessed patient outcomes using the extended Glasgow Outcome Scale after 1 year.
Main Results:
- FXIII 34Leu allele carriers demonstrated an increased risk of aSAH.
- Two FXIII haplotypes (Val34Leu and Pro564Leu) were associated with aSAH risk after adjusting for covariates.
- No significant associations were found for tPA, PAI-1, or TAFI SNPs; a weak tPA/PAI-1 genotype combination showed a trend with outcome.
Conclusions:
- Polymorphisms within the FXIII gene are associated with susceptibility to aSAH.
- Increased bleeding risk in FXIII 34Leu carriers is biologically plausible.
- Further research is needed to fully elucidate the genetic underpinnings of aSAH.
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