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Evaluation of the roles of the Leiden V mutation and ACE I/D polymorphism in subtypes of ischaemic stroke.

AbstractOBJECTIVE:
The Leiden V mutation, which causes activated protein C resistance and thrombophilia, has been found to be a risk factor for venous thrombosis. The angiotensin converting enzyme (ACE) D allele indirectly exerts an unfavourable effect on the vasoregulatory system. In this study, the frequency of these mutations was analysed in different subtypes of ischaemic stroke.
METHOD AND MATERIAL:
According to the clinical and radiological features 664 Hungarian patients who had suffered acute ischaemic stroke were divided into 3 subtypes: small and large vessel infarcts and a mixed type. In all 664 patients, the Leiden V mutation and ACE I/D polymorphism were examined by means of the PCR technique. The frequencies of the different genotypes for the Leiden V mutation and ACE I/D polymorphism in the 3 subgroups of stroke were compared with 199 stroke-free control subjects whose MRI findings were normal.
RESULTS:
No significant associations were found between the overall group of cerebral infarctions and the Leiden V, ACE I/D and ACE D/D genotypes. The ACE D/D genotype was significantly more common in the patients with small deep infarcts (40.3%; p < 0.0005; OR 2.31, 95% CI 1.49-3.57) than in the control group (22.6%). The Leiden V mutation was significantly more common in patients with large infarcts (13.6%; p < 0.025; OR 2.25, CI 1.16-4.34) than in the stroke-free control subjects (6.5%).
CONCLUSIONS:
The ACE D/D genotype possibly contributes to the occurrence of small-vessel infarcts rather than large vessel infarcts. The Leiden V mutation might predispose to large brain infarcts. Neither the Leiden V factor nor the ACE D/D genotype has been proved to be a risk factor for ischaemic stroke as a whole.
AuthorsZ Szolnoki, F Somogyvári, A Kondacs, M Szabó, L Fodor
JournalJournal of neurology (J Neurol) Vol. 248 Issue 9 Pg. 756-61 (Sep 2001) ISSN: 0340-5354 [Print] Germany
PMID11596779 (Publication Type: Journal Article)
Chemical References
  • DNA Transposable Elements
  • factor V Leiden
  • Factor V
  • Peptidyl-Dipeptidase A
Topics
  • Adult
  • Aged
  • Aged, 80 and over
  • Brain Ischemia (genetics)
  • DNA Transposable Elements
  • Factor V (genetics)
  • Female
  • Gene Deletion
  • Gene Frequency
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation (physiology)
  • Peptidyl-Dipeptidase A (genetics)
  • Reference Values
  • Stroke (genetics)

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