A MUTATION IN PLASMA PLATELET-ACTIVATING-FACTOR ACETYLHYDROLASE (VAL279PHE) IS A GENETIC RISK FACTOR FOR CEREBRAL-HEMORRHAGE BUT NOT FOR HYPERTENSION

Citation
H. Yoshida et al., A MUTATION IN PLASMA PLATELET-ACTIVATING-FACTOR ACETYLHYDROLASE (VAL279PHE) IS A GENETIC RISK FACTOR FOR CEREBRAL-HEMORRHAGE BUT NOT FOR HYPERTENSION, Thrombosis and haemostasis, 80(3), 1998, pp. 372-375
Citations number
29
Categorie Soggetti
Hematology,"Peripheal Vascular Diseas
Journal title
ISSN journal
03406245
Volume
80
Issue
3
Year of publication
1998
Pages
372 - 375
Database
ISI
SICI code
0340-6245(1998)80:3<372:AMIPPA>2.0.ZU;2-A
Abstract
Platelet-activating factor (PAF) acetylhydrolase is an enzyme that ina ctivates PAF. Deficiency of this enzyme is caused by a missense mutati on in the gene. We previously found a higher prevalence of this mutati on in patients with ischemic stroke. This:aci suggests that the mutati on might enhance the risk for stroke through its association with hype rtension. We have addressed this hypothesis by analyzing the prevalenc e of the mutation in hypertension. We studied 138 patients with essent ial hypertension, 99 patients with brain hemorrhage, and 270 healthy c ontrols. Genomic DNA was analyzed for the mutant allele by the polymer ase-chain reaction. The prevalence of the mutation was 29.3% (27.4% he terozygotes and 1.9% homozygotes) in controls and 36.2% in hypertensiv es 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 def iciency may be agenetic risk factor for vascular diseases.