Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Platelet-activating factor acetylhydrolase (PAF-AH), a plasma enzyme that hydrolyzes PAF and oxidized phospholipids, is thought to be involved in protecting cells against oxidative stress. A G(994) (M allele)-->T (m allele) mutation in the plasma PAF-AH gene, which results in a Val(279)-->Phe substitution in the mature protein, leads to a loss of catalytic activity. To elucidate the relationships among PAF-AH enzyme activity, genotype, age, and atherosclerosis, we assayed these parameters in a large Japanese population (n=3932) that consisted of three groups; a control group (healthy individuals; n=1684), a risk-factor group (individuals having at least one conventional risk factor for atherosclerosis; n=1398), and a diseased group (patients who had suffered a myocardial infarction or stroke; n=850). We observed a significantly increased frequency of the m allele in the diseased group as compared with the control or risk-factor groups. Plasma PAF-AH activity increased significantly with age in women in the control group with the MM and Mm genotypes, and in men in the control group with the MM genotype, but not in men with the Mm genotype. In both the risk-factor and diseased groups, however, no correlation was observed between plasma PAF-AH activity and age in subjects with either genotype. These results suggest that in individuals with the MM genotype, plasma PAF-AH activity may be increased in response to stresses induced by PAF and/or oxidized phospholipids that might accumulate with age, but that this response is not evident or reduced in healthy individuals with the m allele, or in subjects with atherosclerotic disease, or having risk factors. Together with our previous findings, the G(994)-->T mutation in the PAF-AH gene may be one of the genetic determinants for atherosclerotic disease in the Japanese population.
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PMID:Correlations between plasma platelet-activating factor acetylhydrolase (PAF-AH) activity and PAF-AH genotype, age, and atherosclerosis in a Japanese population. 1078 53

Platelet-activating factor acetylhydrolase (PAF-AH) has an important function in the pathogenesis of ischemic stroke. The aim of the present study was to investigate the correlation between the variation of polymorphisms (R92H and V279F) in PAF-AH and ischemic stroke. A total of 375 patients with ischemic stroke and 370 healthy controls were recruited into the study. Polymorphisms of V279F and R92H in PAF-AH were detected by polymerase chain reaction and DNA direct sequencing method. No significant association was observed between V279F and ischemic stroke. However, the RH+HH genotype, RH genotype and H allele of R92H were significantly associated with an increased risk of ischemic stroke (P=0.02, P=0.03 and P=0.02, respectively), In addition, these correlations remained following adjustment for confounding risk factors of stroke. Furthermore, subgroup analysis showed that a significant association with R92H was identified in the large-artery atherosclerotic stroke subgroup. These findings indicated that variation of R92H in the PAF-AH gene may contribute to ischemic stroke susceptibility in the population studied.
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PMID:Associations of platelet-activating factor acetylhydrolase gene polymorphisms with risk of ischemic stroke. 2689 47