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 oc
curs in 4% of the Japanese population. We asked if PAF acetylhydrolase defi
ciency correlates with the incidence and severity of asthma in Japan. We fo
und that the prevalence of PAF acetylhydrolase deficiency is higher in Japa
nese asthmatics than healthy subjects and that the severity of this syndrom
e is highest in homozygous-deficient subjects. We conclude that the PAF ace
tylhydrolase gene is a modulating locus for the severity of asthma.