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Thromb Haemost 1998; 80(03): 372-375
DOI: 10.1055/s-0037-1615214
Rapid Communications
Schattauer GmbH

A Mutation in Plasma Platelet-activating Factor Acetylhydrolase (Val279Phe) Is a Genetic Risk Factor for Cerebral Hemorrhage but not for Hypertension

Hidemi Yoshida
1   From the Department of Pathological Physiology, Institute of Neurological Diseases, Hirosaki University School of Medicine, Hirosaki
,
Tadaatsu Imaizumi
1   From the Department of Pathological Physiology, Institute of Neurological Diseases, Hirosaki University School of Medicine, Hirosaki
,
Koji Fujimoto
1   From the Department of Pathological Physiology, Institute of Neurological Diseases, Hirosaki University School of Medicine, Hirosaki
,
Hiroyuki Itaya
1   From the Department of Pathological Physiology, Institute of Neurological Diseases, Hirosaki University School of Medicine, Hirosaki
,
Makoto Hiramoto
2   From the Department of Neurosurgery, Yokohama General Hospital, Yokohama
,
Nobuhiro Yoshimizu
2   From the Department of Neurosurgery, Yokohama General Hospital, Yokohama
,
Kazue Fukushi
3   From the Aomori Health Control Center, Aomori, Japan
,
Kei Satoh
1   From the Department of Pathological Physiology, Institute of Neurological Diseases, Hirosaki University School of Medicine, Hirosaki
› Author Affiliations
Further Information

Publication History

Received 07 October 1997

Accepted after resubmission 05 May 1998

Publication Date:
08 December 2017 (online)

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Summary

Platelet-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 <0.05). PAF acetylhydrolase deficiency may be a genetic risk factor for vascular diseases.

 

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