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
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.