Correlative Study Between Gene Mutation (Val～(279)-Phe) In Plasma Platelet-Activating Factor Acetylhydrolase And Cerebral Vascular Disease

Objective To study the correlation between gene mutation (Val279 -Phe) in plasma Platelet-activating factor (PAF) acetylhydrolase and cerebral vascular disease (CVD) in Chinese and the role played by the mutation in the pathogenesis of CVD.Methods Genomic DNA was analysed for the mutation allele in 153 patients with CVD and 100 healthy subjects matched for age and sex without CVD by a specific polymer-ase-chain reaction and plasma PAF acetylhydrolase activity was assayed.Results The prevalence of the mutation and the frequency of the mutation allele are significantly higher in patients with cerebral infarction(42. 7%, 24. 0%)and intracerebral hemorrhage(47. 4%, 26. 3%) than those in control subjects (25. 0%,13. 5%) (P<0. 01). The differences of the prevalence of the mutation and the frequency of the mutation allele aren't significant between patients with hypertension and those without hypertention, patients with hyperlipidemia and patients without hyperlipidemia, patients with diabete and patients without diabete, patients with a family history of CVD and those without such a history (P>0. 05, P>0. 5, P>0. 2, P>0.1).Conclusion Deficiency of this enzyme in plasma induced by PAF acetylhydrolase gene mutation may be a genetic risk factor for cerebral vascular disease in Chinese.