Association with PAF-acetylhydrolase gene polymorphism with peripheral arterial occlusive disease

PAF-乙酰水解酶基因多态性与外周动脉闭塞性疾病的相关性

• 批准号: 15591335
• 负责人: UNNO Naoki
• 金额: $ 1.73万
• 依托单位: Hamamatsu University School of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2003
• 资助国家: 日本
• 起止时间: 2003 至 2004
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-15591335/
• 关键词: PAF-acetylhydrolase; arterioeclerosis obliterance; hyperlipidemia; polymorphism; 下肢深部静脈血栓症; RAF-acetylhydrolase

Plasma PAF-acetylhydrolase (PAF-AH) gene polymorphisms (G^<994>→T in exon 9) and the resulting deficiency of enzynie activity were identified in Japan, Turkey and the neighbor countries. The objective of this study was to assess the joint effect of the polymorphism and hypercholesterolemia on risk of atherosclerosis.We performed a case-control study including 150 patients who underwent operation for peripheral arterial occlusive disease (PAOD) and 158 controls matched for age and sex. Genomic DNA was analyzed for the mutant allele by a specific polymerase-chain reaction. Plasma PAF-AH activity was measured in both groups. PROD patients were assessed either with/without polymorphism or hypercholesterolemia in regard to accompaning coronary artery disease or stroke. The prevalence of the polymorphism was significantly more frequent in the patients with PROD. The plasma PAP-AH activity was correlated with total cholesterol and LDL level, and inversely related with HDL in normal genotype (GG) patients. However, neither the correlation nor the inverse relation was found in patients with the polymorphism. Patients with both hypercholesterolemia and the polymorphisms revealed a relative risk for other atherosclerotic disease (i.e. ischemic heart disease or brain infarction) of 11.3 (95 % CI 6.0-40.3) compared with normal genotype and normal lipid level.

在日本、土耳其及其邻国发现血浆paf -乙酰水解酶（PAF-AH）基因多态性（第9外显子G^<994>→T）和由此导致的酶活性不足。本研究的目的是评估多态性和高胆固醇血症对动脉粥样硬化风险的共同影响。我们进行了一项病例对照研究，包括150名接受外周动脉闭塞性疾病（PAOD）手术的患者和158名年龄和性别匹配的对照组。通过特异性聚合酶链反应分析突变等位基因的基因组DNA。测定两组患者血浆PAF-AH活性。评估PROD患者是否伴有冠状动脉疾病或中风的多态性或高胆固醇血症。在正常基因型（GG）患者中，血浆PAP-AH活性与总胆固醇和LDL水平相关，与HDL水平呈负相关。然而，在多态性患者中既没有发现相关关系，也没有发现负相关关系。与正常基因型和正常脂质水平的患者相比，同时存在高胆固醇血症和多态性的患者发生其他动脉粥样硬化疾病（即缺血性心脏病或脑梗死）的相对风险为11.3 （95% CI 6.0-40.3）。