Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in japan.
OBJECTIVE
Plasma platelet-activating factor acetylhydrolase (PAF-AH) 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.
Unno
N
N
Department of Surgery II, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nakamura
T
T
Kaneko
H
H
Uchiyama
T
T
Yamamoto
N
N
Sugatani
J
J
Miwa
M
M
Nakamura
S
S
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000368:Aged; D001161:Arteriosclerosis / Q000209:etiology* / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D010741:Phospholipases A / Q000172:deficiency* / Q000235:genetics*; D010972:Platelet Activating Factor / Q000172:deficiency* / Q000235:genetics*
D010972:Platelet Activating Factor; D010741:Phospholipases A; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase