[Significance of Factor V gene A506G mutation (Leiden) in the pathogenesis of ischemic stroke].
BACKGROUND
There are conflicting data about the role of Leiden mutation in the pathogenesis of cerebral arterial thrombosis. In order to obtain relevant data, authors investigated the prevalence of factor V Leiden (A506G) both in healthy subjects and in a subgroup of ischaemic stroke patients.


METHODS
Blood samples of 171 healthy persons and 254 ischaemic stroke patients were examined by PCR method for Leiden mutation. Ischaemic lesions in the stroke group were documented by CT or MRI. A routine questionnaire was used to study the family history of vascular events (hypertension, diabetes, POAD, stroke, myocardial infarction) of patients. Conventional vascular risk factors of patients were also documented.


RESULTS
The prevalence of Leiden mutation was 7.2% in healthy persons and 11.9% in stroke patients. The OR for 254 patient was 1.45 (0.71-2.97). In the subgroup of young patients: age < 50 (n = 134) the OR was 1.67 (0.75-3.70) and in the elderly patients group: age > 50 (n = 120) the OR was 1.21 (0.50-2.89). In the family history of stroke patients having Leiden mutation (hetero- and homozygosity) the stroke prevalence was higher (p = 0.01). In the ischaemic stroke group, age < 50 with polymorphism a tight correlation with hyperlipidaemia (p = 0.03) was found. In the group of age < 50 with heterozygosity for Leiden, a lower plasma fibrinogen concentration (p = 0.02) was found. The polymorphism showed no correlation with the hypertension, hyperuricaemia, migraine, diabetes mellitus, smoking, alcohol consumption and CDS status of patients.


CONCLUSIONS
When comparing stroke patients to control population there is no significant increase in the frequency of Leiden mutation. Leiden mutation together with hyperlipidaemia and stroke in the family history results in high risk for ischaemic stroke in young patients.
Pongrácz
Endre
E
BM Központi Kórház és Intézményei, Neurológiai Osztály, H-1071 Budapest, Városligeti fasor 9-13. epongracz@bm.gov.hu
Tordai
Attila
A
Csornai
Márta
M
Béla
Zsuzsanna
Z
Nagy
Zoltán
Z
D000328:Adult; D017668:Age of Onset; D000409:Alanine / Q000235:genetics; D002545:Brain Ischemia / Q000150:complications*; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors; D020521:Stroke / Q000209:etiology / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D000409:Alanine; D005998:Glycine