Unno N, Nakamura T, Kaneko H, Uchiyama T, Yamamoto N, Sugatani J, Miwa M, Nakamura S
Department of Surgery II, Hamamatsu University School of Medicine, Hamamatsu, Japan.
J Vasc Surg. 2000 Aug;32(2):263-7. doi: 10.1067/mva.2000.105670.
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.
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.
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.
The missense (G(994)-->T) in exon 9 of the plasma PAF-AH gene is associated with AO in Japanese people.
血浆血小板活化因子乙酰水解酶（PAF-AH）可催化血小板活化因子，从而使其炎症功能失活。该酶的缺乏是由血浆PAF-AH基因第9外显子的错义突变（G(994)-->T）所致。在本研究中，我们调查了这种突变与日本患者动脉粥样硬化闭塞性疾病（AO）风险之间的可能关联。
我们研究了104例AO患者。对照组由114名年龄和性别匹配的受试者组成。测定了AO患者的血浆PAF-AH活性。
AO患者中突变基因型（GT + TT）的患病率显著高于对照组（36.5%对23.7%；P <.05）。在AO患者中，携带突变等位基因的患者比基因型正常的患者有更多既往中风或缺血性心脏病的危险因素。在正常基因型亚组中，AO患者的血浆PAF-AH活性高于对照组。
血浆PAF-AH基因第9外显子的错义突变（G(994)-->T）与日本人的AO相关。
