A Mutation in Plasma Platelet-activating Factor Acetylhydrolase (Val279Phe) Is a Genetic Risk Factor for Cerebral Hemorrhage but not for Hypertension
| Autor: | Tadaatsu Imaizumi, Hiroyuki Itaya, M. Hiramoto, Hidemi Yoshida, Nobuhiro Yoshimizu, Kazue Fukushi, Koji Fujimoto, Kei Satoh |
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| Rok vydání: | 1998 |
| Předmět: |
Genetic Markers
Male medicine.medical_specialty PAF acetylhydrolase Essential hypertension Phospholipases A chemistry.chemical_compound Risk Factors Internal medicine medicine Humans Acetylalkylglycerol acetylhydrolase Missense mutation Risk factor Stroke Aged Cerebral Hemorrhage Platelet-activating factor business.industry Hematology Middle Aged medicine.disease Endocrinology chemistry 1-Alkyl-2-acetylglycerophosphocholine Esterase Hypertension Mutation Immunology Mutation (genetic algorithm) Female business |
| Zdroj: | Thrombosis and Haemostasis. 80:372-375 |
| ISSN: | 2567-689X 0340-6245 |
| DOI: | 10.1055/s-0037-1615214 |
| Popis: | SummaryPlatelet-activating factor (PAF) acetylhydrolase is an enzyme that inactivates PAF. Deficiency of this enzyme is caused by a missense mutation in the gene. We previously found a higher prevalence of this mutation in patients with ischemic stroke. This fact suggests that the mutation might enhance the risk for stroke through its association with hypertension. We have addressed this hypothesis by analyzing the prevalence of the mutation in hypertension. We studied 138 patients with essential hypertension, 99 patients with brain hemorrhage, and 270 healthy controls. Genomic DNA was analyzed for the mutant allele by the polymerase-chain reaction. The prevalence of the mutation was 29.3% (27.4% heterozygotes and 1.9% homozygotes) in controls and 36.2% in hypertensives and the difference was not significant. The prevalence in patients with brain hemorrhage was significantly higher than the control: 32.6% heterozygotes and 6.1% homozygotes (p |
| Databáze: | OpenAIRE |
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