Evidence for an association between plasma platelet-activating factor acetylhydrolase deficiency and increased risk of childhood atopic asthma

被引：0

作者：

S. Ito

E. Noguchi

M. Shibasaki

K. Yamakawa-Kobayashi

H. Watanabe

T. Arinami

机构：

[1] Department of Medical Genetics,

[2] Institute of Basic Medical Sciences,undefined

[3] Institute of Clinical Medicine,undefined

[4] University of Tsukuba,undefined

[5] 1-1-1 Tennoudai,undefined

[6] Tsukuba 305-8575 Japan Tel. +81-298-533352; Fax +81-298-533333 e-mail: tarinami@md.tsukuba.ac.jp,undefined

[7] Department of Pediatrics,undefined

[8] Institute of Basic Medical Sciences,undefined

[9] University of Tsukuba,undefined

[10] Tsukuba,undefined

[11] Japan,undefined

来源：

Journal of Human Genetics | 2002年 / 47卷

关键词：

Key words Asthma; Association; Genetic polymorphism; Platelet-activating factor acetylhydrolase; Transmission disequilibrium test;

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摘要：

Platelet-activating factor (PAF), which has been implicated in the pathophysiology of inflammation in asthma, is degraded and inactivated by PAF acetylhydrolase (PAFAH). Approximately 4% of the Japanese population lacks plasma PAFAH due to a loss-of-function variant (Val279Phe) in the PAFAH gene. Although lack of PAFAH activity is thought to be a risk factor for asthma, there are conflicting findings concerning association between the Val279Phe variant and asthma. In this study, we conducted transmission disequilibrium tests of 118 Japanese parent-child trios identified through mite-sensitive atopic asthmatic children. A case-control study was also carried out. The Phe279/Phe279 genotype was found more frequently in children with atopic asthma (13%) than in their parents (6%) or in controls (4%). Results of the genotypic transmission test were significant, and the Phe279/Phe279 genotype was transmitted preferentially to asthmatic children. Our data support an association between deficiency in PAFAH activity and atopic asthma.

引用

页码：99 / 101

页数：2