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  1. A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension.

    Article - En anglais

    Platelet-activating factor (PAF) acetylhydrolase is an enzyme that inactivates PAF.

    Deficiency of this enzyme is caused by a missense mutation in the gene.

    We previously found a higher prevalence of this mutation in patients with ischemic stroke.

    This fact suggests that the mutation might enhance the risk for stroke through its association with hypertension.

    We have addressed this hypothesis by analyzing the prevalence of the mutation in hypertension.

    We studied 138 patients with essential hypertension, 99 patients with brain hemorrhage, and 270 healthy controls.

    Genomic DNA was analyzed for the mutant allele by the polymerase-chain reaction.

    The prevalence of the mutation was 29.3% (27.4% heterozygotes and 1.9% homozygotes) in controls and 36.2% in hypertensives and the difference was not significant.

    The prevalence in patients with brain hemorrhage was significantly higher than the control : 32.6% heterozygotes and 6.1% homozygotes (p<0.05).

    PAF acetylhydrolase deficiency may be a genetic risk factor for vascular diseases.

    Mots-clés Pascal : Hémorragie cérébrale, Mutation, Gène, Facteur activant thrombocyte, Acetylalkylglycerol acetylhydrolase, Carboxylic ester hydrolases, Esterases, Hydrolases, Enzyme, Prévalence, Epidémiologie, Facteur risque, Japon, Asie, Homme, Système nerveux pathologie, Système nerveux central pathologie, Encéphale pathologie, Cérébrovasculaire pathologie, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Génétique, Aberration chromosomique

    Mots-clés Pascal anglais : Cerebral hemorrhage, Mutation, Gene, Platelet activating factor, Acetylalkylglycerol acetylhydrolase, Carboxylic ester hydrolases, Esterases, Hydrolases, Enzyme, Prevalence, Epidemiology, Risk factor, Japan, Asia, Human, Nervous system diseases, Central nervous system disease, Cerebral disorder, Cerebrovascular disease, Cardiovascular disease, Vascular disease, Genetics, Chromosomal aberration

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 98-0454916

    Code Inist : 002B17C. Création : 25/01/1999.