Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in Japan

Purpose: Plasma platelet-activating factor acetylhydrolase (PAP-AN) is known to catalyze platelet-activating factor, thereby inactivating its inflammatory function. Deficiency of this enzyme is caused by a missense (G(994)--> T) in exon 9 of the plasma PAF-AH gene. In this study, we investigated a possible association of this mutation with the risk of atherosclerotic occlusive disease (AO) in Japanese patients. Methods: We studied 104 patients with AO. The control group consisted of 114 subjects matched for age and sex. Plasma PAF-AH activity was measured in the patients with AO. Results: The prevalence of the mutant genotype (GT + TT) was significantly more frequent in patients with AO than in control subjects (36.5% vs 23.7%; P < .05). Among the patients with AO, those with the mutant allele had significantly more risk factors of prior stroke or ischemic heart disease than patients with normal genotypes. Plasma PAF-AH activity was higher in patients with AO than in control subjects in normal genotype subgroups. Conclusions: The missense (G(994)--> T) in exon 9 of the plasma PAF-AH gene is associated with AO in Japanese people. (J Vasc Surg 2000;32:263-7.).