血小板活化因子乙酰水解酶缺乏是哮喘的一个严重因素。
Deficiency of platelet-activating factor acetylhydrolase is a severity factor for asthma.
作者信息
Stafforini D M, Numao T, Tsodikov A, Vaitkus D, Fukuda T, Watanabe N, Fueki N, McIntyre T M, Zimmerman G A, Makino S, Prescott S M
机构信息
Huntsman Cancer Institute, Program in Human Molecular Biology and Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah 84112-5332, USA.
出版信息
J Clin Invest. 1999 Apr;103(7):989-97. doi: 10.1172/JCI5574.
Abstract
Asthma, a family of airway disorders characterized by airway inflammation, has an increasing incidence worldwide. Platelet-activating factor (PAF) may play a role in the pathophysiology of asthma. Its proinflammatory actions are antagonized by PAF acetylhydrolase. A missense mutation (V279F) in the PAF acetylhydrolase gene results in the complete loss of activity, which occurs in 4% of the Japanese population. We asked if PAF acetylhydrolase deficiency correlates with the incidence and severity of asthma in Japan. We found that the prevalence of PAF acetylhydrolase deficiency is higher in Japanese asthmatics than healthy subjects and that the severity of this syndrome is highest in homozygous-deficient subjects. We conclude that the PAF acetylhydrolase gene is a modulating locus for the severity of asthma.
摘要
哮喘是一类以气道炎症为特征的气道疾病，在全球范围内发病率呈上升趋势。血小板活化因子（PAF）可能在哮喘的病理生理学中起作用。其促炎作用可被PAF乙酰水解酶拮抗。PAF乙酰水解酶基因中的一个错义突变（V279F）导致活性完全丧失，这在4%的日本人群中出现。我们探讨了PAF乙酰水解酶缺乏与日本哮喘的发病率和严重程度是否相关。我们发现，日本哮喘患者中PAF乙酰水解酶缺乏的患病率高于健康受试者，并且该综合征在纯合子缺乏受试者中最为严重。我们得出结论，PAF乙酰水解酶基因是哮喘严重程度的一个调节位点。
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