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

Objective The Leiden V mutation, which causes activated protein C resistanc e and thrombophilia, has been found to be a risk factor for venous thrombos is. The angiotensin converting enzyme (ACE) D allele indirectly exerts an u nfavourable effect on the vasoregulatory system. In this study, the frequen cy of these mutations was analysed in different subtypes of ischaemic strok e. 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 f or the Leiden V mutation and ACE I/D polymorphism in the 3 subgroups of str oke were compared with 199 stroke-free control subjects whose MRI findings were normal. Results No significant associations were found between the ove rall group of cerebral infarctions and the Leiden V, ACE I/D and ACE D/D ge notypes. The ACE D/D genotype was significantly more common in the patients with small deep infarcts (40.3 010; p < 0.0005; OR 2.31, 95 % CI 1.49-3.57 ) than in the control group (22.6 %). The Leiden V mutation was significant ly 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 %). Conclusion s The ACE D/D genotype possibly contributes to the occurrence of small-vess el 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.