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

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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.